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BAI JERBAI WADIA
HOSPITAL FOR CHILDREN
PEDIATRIC CLINICS
FOR POST GRADUATES1
PREFACE
This book is a compilation of the discussions carried out at the course for post-graduates
on ” Clinical Practical Pediatrics” at the Bai Jerbai Wadia Hospital for Children, Mumbai. It
has been prepared by the teaching faculty of the course and will be a ready-reckoner for
the exam-going participants. This manual covers the most commonly asked cases in
Pediatric Practical examinations in our country and we hope that it will help the students
in their practical examinations. An appropriately taken history, properly elicited clinical
signs, logical diagnosis with the differential diagnosis and sound management principles
definitely give the examiner the feeling that the candidate is fit to be a consultant of
tomorrow.
Wishing you all the very best for your forthcoming examinations.
Dr.N.C.Joshi
Dr.S.S.Prabhu
Program Directors.
2 TIPS FOR CANDIDATES
Ten Commandments
1. Dress appropriately as a future consultant. Always wear a neatly washed and
ironed apron. Sit straight and mind your body language, especially your speech
and hand movements i.e. practice speaking before appearing for exams.
2. Always be able to summarize, encapsulate the essence and emphasize the major
issues without losing too much detail. Hence practice case presentations. Mental
rehearsal of the case helps in fluent presentation and makes you appear
confident.
3. Wish the examiner/s when you enter and thank them when you leave.
4. Present the case boldly, confidently and clearly with an attitude of a future
consultant and not a resident (poor speech affects your viva performance).
5. Maintain eye contact with the examiner/s when answering questions
6. When asked to demonstrate clinical signs, give a brief description of what you
want to show the examiners. Always be brief and factual and avoid jargon, slang,
abbreviations and meaning-less expressions.
7. Never antagonize or argue with the examiners .You will always lose. Remember
that the examiner is the judge, jury and the final word.
8. Be clear in what you want to tell. Avoid statement like slightly pale, not looking
good, maybe edematous…..
9. Always have your own equipment set which includes- pens, paper, growth charts,
stethoscope, fundoscope, otoscope, measuring tape, cotton, knee hammer, tuning
fork, pins, torch with batteries, Colorful toys, disposable spatulas, hand held eye
charts (if available).
10.Always appear for the examination with a positive attitude. It helps.
3 List of contributors
Anaita Hegde.
Archana.Limaye
Ira Shah.
K.N. Shah.
Kumud.P.Mehta.
Meena. P.Desai.
M. P. Colaco.
N.C. Joshi.
Parmananad.A.
Priti Mehta.
Rajesh Joshi.
Ruchira Pahare.
Shakuntala Prabhu.
Shilpa Kamat.
Sudha Rao.
Sumitra Venkatesh.
Uma.S.Ali.
Vrajesh Udani.
4 INDEX
1. Tuberculous Meningitis
2. Cerebral Palsy
3. Acute Infantile Hemiplegia
4. Ataxia
5. Duchenne’s Muscular Dystrophy
6. Floppy Infant
7. Chorea
8. Hydrocephalus
9. Meningomyelocoele
10. Paraplegia
11. Guillian Barre Syndrome
12. Neuroregression
13. Congenital Heart Diseases
14. Rheumatic Heart Disease
15. PEM
16. Rickets
17. Short stature
18. Ambigious Genetalia
19. Bronchiectasis
20. Hepatosplenomegaly with anaemia
21. Hepatosplenomegaly with jaundice with PHT
22. Cholestatic syndrome of infancy
23. Rheumatoid Arthritis
24. Nephrotic Syndrome
25. Newborn
6 TUBERCULOUS MENINGITIS

Name Age Sex Address Consanguinity Handedness
Chief Complains
Fever - mild, moderate, low grade with evening rise.
Convulsions :- focal / generalised seizures
(usually not along with onset of fever ,late in the course of fever)
Altered sensorium :- onset - sudden / insiduous.
Lethargy
Vomiting
Focal neurological deficit -
Hemiplegia / monoplegia / cranial neuropathies.
Origin/Duration/Progress
Chief complains in details.
Narrative history :-
H/o. Abnormality of higher functions - Lethargy , altered sensorium
Convulsions
Cranial nerve palsies - deviation of angle of mouth, drooling of saliva,
squinting, diplopia.
Focal neurological deficits ( hemiplegia /monoplegia).
Abnormal / involuntary movements tremors / chorea / hemiballismus
H/s/o increased intracranial pressure i.e. vomiting / headache / blurring of
vision.
H/s/o meningeal inflammation i.e.neck pain, photophobia, restriction of neck
movement.
H/o bowel, bladder complaints .
History for etiology :-
H/o. head injury ( may precipitate TBM)
H/o. otorrhoea - (pyogenic meningitis )
H/o. any treatment taken outside in f/o intramuscular / intravenous injections (Partially
treated pyogenic meningitis)
H/o. vaccines / drugs / sera ( Acute disseminated encephalomyelitis)
H/o. rash, fever, altered sensorium, convulsions ( Viral encephalitis)
H/o. fever with rash (measles)
H/o. whooping cough.
H/o. contact with tuberculosis.
H/o. diarrhoea, fever, chronic cough (HIV)
H/o. immunosuppressive drug intake.
Immunisation history – BCG , Measles.
History for complications :-
H/o bed sores, contractures, skin changes, bladder, bowel complications. (constipation/
urinary infection )
6 H/o. seizures.
H/o. decorticate / decerebrate posturing.
Drug history, procedure history.
H/o. any surgery, VP shunt / reservoir
Family history - of koch’s
Nutritional history - malnutrition may precipitate Tuberculous meningitis.
Birth History :-
Developmental history.
Socio economic history - Overcrowding , sanitation.
Examination :-
General examination :-
1] Decubitus
2] Vitals - Temperature ,Pulse , Respiration , Blood pressure.
3] Anthropometry with interpretation.
4] Pallor, cyanosis, clubbing, icterus, lymphadenopathy, edema feet,
5] Stigmata of tubercolosis – Phlycten ,Scrofuloderma ,Sinuses, erythema nodosum
6] Anterior fontanelle
7] Size & heaviness of head
8] crack pot sign
9] BCG scar - present / absent.
10] Neurocutaneous markers
11] Dysmorphic features
12] Presence or absence of IV line, Ryles tube
13] Skull, spine, scars
14] Skin - bedsores
15] Contractures
16] Signs of malnutrition & vitamin deficiency
17] Presence / absence & patency of VP shunt
CNS :-Higher functions - state of conciousness
Gag reflex
Eye movements
Pupillary reflexes
Corneal / conjunctival reflexes
Motor system examination
Sensory system
Cerebellar signs
Meningeal signs
Hydrocephalus : Heavy head, crackpot or sutural seperation - Signs of increased
intracranial pressure.
Involuntary movements
Fundus - papilloedema / choroid tubercules / optic atrophy.
7 Diagnosis :-
---years old M/F child with chronic meningoencephalitis with / without
hemi / monoparesis with / without cranial nerve palsy with / without involuntary
movement with / without signs of increased intracranial pressure.
Probable etiology being TBM.
Investigations :-
Specific for diagnosis of tuberculous meningitis
1] CSF examination (after fundus examination}
CSF for PCR , Tubercular antigen & ADA levels , Tubercular stearic acid
and Bromide partition test.
2] Neuroimaging - CT scan with contrast (in c/o increased intracranial pressure CT
should be done prior to lumbar puncture & LP should be guarded /LP under cover of mannitol).
3] MT
4] X ray chest
5] Gastric lavage for Acid fast bacillus.
6] CBC - with lymphocytosis & ESR
7] HIV
8] Liver function tests ( prior to treatment & for treatment monitoring}
9] Renal function test
10] Eletrolyte - baseline as well as monitoring to rule out SIADH
Commonly asked questions :
1] Discussion of differential diagnosis
2] Stages of coma
3] Stages of TBM & prognosis in each stage.
4] Signs of meningeal irritation.
5] Signs of increased intracranial pressure
6] Types of herniation
7] Management of TBM - supportive + definitive
8] Types of shunt & complications of shunt
9] Complication of TBM
10] Pathology in TBM & lesion localization
11] CT correlates in TBM
12] Precipitating factors in TBM
13] Poor prognostic factors in TBM
14] Role of steroids
15] Newer modalities of diagnosis of TBM
8 CEREBRAL PALSY
Name Age Sex Handedness Consanguinity
Chief complaints:
- delayed milestones,
- convulsions.
O.P.D.
- Convulsions - Generalised tonic clonic / myoclonic / focal
Infantile spasms.
- Detailed birth history.
Antenatal period - maternal drugs, Xrays, illnesses-like rash , PIH ,DM , fall
- Milestone History Gross motor , fine adaptive ,social , language (with rough
DQ to each category).
- Hand preference.
- Scissoring (difficulty in putting diaper).
- Floppiness of body .
- Power in limbs.
- Impairment of vision, hearing.
- Squinting, CN palsies.
- Swallowing difficulties.
- Involuntary movement
- Dystonia, tremors, chorea, dyskinesia.
- limb dyskinesia , oromotor dyskinesia , jark in the box tongue.
- Mannerisms, stereotypies.
- Bladder, bowel involvement.
For etiology :-
Birth details :Antenatal Infections, twins , trauma,drugs
Neonatal sepsis, kernicterus
Meconium, asphyxia, hypoglycemia.,NICU stay
Post meningitis / trauma.
Family history :-
Any neurological illness / convulsion in any sibling / family
any sibling deaths, any CPs in family.
H/O Complication :-
Convulsions
Feeding difficulty /constipation
recurrent LRTI
contractures, bed sores behavioral problems, injuries, falls.
9 H/O Treatment :-
Immunisation :- ?? DPT
Diet History
Examination :
- Vitals
- Anthropometry with interpretation
- General- pallor
Cataract, strabismus,
Skull - Overriding of sutures.
Shape of skull
Anterior Fontanelle
Dysmorphism
Neurocutaneous markers
Eyes - cataract
Dentition
Evidence of. malnutrition , bed sores, contractures - static/ dynamic
CNS :-
? Higher Functions
? Cranial nerves
? Tone power reflexes
? Exaggeration of reflexes:- afferent spread. (Knee Jerk on tapping thigh)
efferent spill over (crossed adductor on knee jerk)
? Development :- supine, prone, pull to sit,
Ventral suspension ,axillary suspension
? Neonatal reflexes
? Hearing
? Vision
? Fundus examination – choreoretinitis / optic atrophy / retinitis pigmentosa
Other systems (organomegaly/ murmurs)
Diagnosis -------------year old M/F with static encephalopathy with motor deficit (spastic
/ hypotonic / mono-di-tri-tetra-para plegia / double hemiplegia)
with functional grade-----------
with convulsion
with squint, hearing deficit
with IQ / DQ (mental / motor age)
with PEM / LRTI/ contractures , with probable etiology ----------
10 Commonly asked questions :-
1] Early markers of CP
2] Functional grades of CP
3] Neonatal reflexes
4] Audiometry
5] MRI correlates in CP
6] Development - gross motor, fine motor, speech ,social
7] Drugs & Surgical procedure to reduce spasticity
8] Associated problems :-
- MR - 50-75% Sp. Quadriplegic
- Seizures - 25-30%
Spastic Quadriplegic C.P. (90%) Spastic Hemiplegic C.P. (30%)
Least in dystonic C.P.
- Hearing & Speech problems-15-20%. in dystonic and spastic C.P.
- Ocular problem 50-70%
- Behaviour problem 30-50%
11 ACUTE INFANTILE HEMIPLEGIA
Name Age Sex Address Consanguinity Handedness
CHIEF COMPLAINTS: paucity of movements of right/left side of the body.
convulsions
ODP-Congenital / acquired
Onset-Catastrophic/acute/sub acute/chronic/static/episodic
Progressive/ static/ improving
Involving the upper limb preferentially/equally
Detailed H/O CNS involvement –
? H/O weakness, proximal/distal
? H/O sensory involvement
? H/O Cranial nerve involvement
? H/O involuntary movements
? H/O bladder / Bowel involvement
? H/O speech abnormality
? H/O gait abnormality
H/O Complications
Bed sores/shortening of limbs/contractures /trophic ulcers
ETIOLOGICAL HISTORY
H/o Trauma-Head injury/Oral cavity injury
- Fracture( Fat embolism)
Hematological causes
H/O pallor
H/O pain in hand/foot/ abdomen (sickle cell crisis)
H/O bleeding from any site/petechae/purpura/ hematemesis / malena
H/O Fever/ bone pain /weight loss (leukemia)
H/O diarrhea/ vomiting oliguria/ hematuria (HUS) or, h/s/o nephrotic
syndrome
Cardiac causes
H/o fever with chills/ petechiae/hematuria (Infective Endocarditis)
H/O cyanosis /cyanotic spell (Cyanotic heart disease) (abscess/
Thrombosis )
H/O fever with joint pain/sore throat (Rheumatic)
H/O Cardiac surgery (Prosthetic heart valve)
H/s/o Hypertension-Headache/ Vomiting/Visual Disturbance
Collagen Vascular Disease
H/o fever with rash with joint pain (SLE)
H/O Claudication (Takayasus)
12 Infectious Causes
H/O sore throat (Pharyngeal abscess)
H/O Koch’s/Koch’s contact
H/O Viral exanthems (HSV Encephalitis/ mumps/chicken pox)
H/O Otorrhoea (brain abscess)
H/O Vaccination/ sera (Demyelination)
Dehydration- H/O Acute Gastroenteritis followed by seizures/ coma (sagittal sinus
thrombosis )
H/O recurrent attacks of TIA /hemi paresis (Migraine/Moya-Moya/alternating hemiplegia)
H/O post seizure transient paralysis (Todd’s paralysis)
FAMILY HISTORY
H/O similar attacks in the family (Sickle cell/ homocystinurea/Hyperlipidaemia)
BIRTH HISTORY
Preterm-Subependymal Hemorrhage-Intraventricular hemorrhage
Full-term- Breech/ Traumatic delivery/Birth Asphyxia
H/O Umbilical sepsis / Catheterization (Embolism)
H/o Rash/ fever/ petechae/jaundice (IU infection)
EXAMINATION:
General Examination-Routine examination plus look for dysmorphic features
? Carotid pulses should be palpated as well as auscultated(Moya Moya,Takayasu)
? Anterior Fontanelle
? Head Circumference
? US/LS & Length (homocystinurea)
? Pallor/Cyanosis/Clubbing
? Xanthomas
? Petechiae/Purpura/ Joint bleed/ Rash
? Eyes-Ectopia lentis
? Neurocutaneous Stigmata
? Skull-Trauma/Crack pot/Bruit over the skull.
CNS
Higher Functions- Speech (dysphasia seen in involvement of dominant hemisphere)
Intellectual impairment (Meningitis, Encephalitis, Homocystinurea)
Gait (older child)/Gross motor assessment (infant)
Cranial nerve examination (3,4,6 ,7th & gag reflex)
Motor examination -Tone/Power/Reflexes
Abdominal Reflexes & Plantars
Visual fields for field defects& partial visual neglect (A field defect
infers a lesion at or above the internal capsule)
Higher Centers-Test for dysphasia/ Agraphia/ astereognosis/ two point discrimination,
tactile localisation (these occur when the dominant side is involved)
CVS Examination
SPINE
13 Table 1. Differential Diagnosis of Acute Focal Neurological Deficit
Focal cerebral ischemia
Intracranial hemorrhage
Cerebral abscess
Encephalitis (herpes simplex virus)
Brain tumor
Alternating hemiplegia of infancy
Multiple sclerosis
Malingering/conversion disorder
Epilepsy: post-ictal Todd's paralysis or a focal inhibitory seizure
Complicated migraine
Table 2. Diagnostic Evaluation in a Child with Cerebrovascular Disease
FIRST LINE:
Performed within
first 48 hours of
admission
SECOND LINE: Performed within first
week
as indicated
THIRD LINE: Performed
electively as indicated
CT scan of brain
MRI of brain
Complete blood
count
PT/PTT
Electrolytes, Ca, Mg,
Phosphorus,
glucose
Liver function test
Chest x-ray ,MT
ESR
ANA
Urinalysis
BUN, creatinine
Urine drug screen
12-lead EKG
Echocardiogram
Transcranial and/or carotid dopplers
MR angiogram
EEG
Hypercoaguable evaluation
Antithrombin III
Protein C (activity and antigen)
Factor V (leiden) mutation
Antiphospholipid antibody
Anticardiolipin
Lupus-anticoagulant - RA factor
Serum amino acids
Urine for organic acids
Blood culture
Hemoglobin electrophoresis
Complement profile
VDRL
Lactate /pyruvate
Ammonia
CSF: cell count, protein, glucose,
lactate
Lipid profile
HIV
Lyme titers
Mycoplasma titers
Cardiac MRI
Echocardiogram
(transesophageal)
Muscle Biopsy
DNA testing for MELAS
Cerebral angiogram
(transfemoral)
Leptomeningeal biopsy
Serum homocystine after
methionine load
14 LOCALIZATION OF THE LESION IN CASE OF ACUTE INFANTILE HEMIPLEGIAA) If the cranial nerve palsy is on the same side as that of hemiplegia then the lesion
is above the level of brain stem-Ipsilateral hemiplegia
B) If the cranial nerve palsy is on the side opposite to that of hemiplegia then the
lesion is at or below the brain stem.-Contralateral hemiplegia
IPSILATERAL HEMIPLEGIA
The lesion is either in the cortex , internal capsule or sub cortical region
A) Cortical lesion-
? Hemi paresis-Mild involvement & not dense hemiplegia
? Differential involvement (Upper limbs more than lower or lower limbs more
than upper)
? Altered sensorium may be present
? Convulsions may be present
? Cortical sensory loss may be present
? Astereognosis
? Aphasia (if the dominant cortex is affected0
Involvement of the frontal lobe
Altered behavior/personality
Upper limb affected more than lower limb
Motor aphasia
Convulsions
Bladder/ bowel involvement
Persistent neonatal reflexes on the opposite side
Involvement of the parietal lobe
Cortical sensory loss
Astereognosis
Involvement of the Temporal lobe
Temporal lobe epilepsy
Sensory aphasia
Memory loss
Involvement of occipital lobe
Homonymous hemianopia
B) Internal capsule lesion
Dense Hemiplegia
Hemianaesthesia
Homonymous hemianopia
Dysarthria
C) Subcortical lesion(Corona Radiata)
15 Same as cortical lesion but features such as convulsions & loss of cortical
sensation are absent
CONTRALATERAL HEMIPLEGIA- Lesion at or below the level of brain stem
A) Lesion in Midbrain
WEBER SYNDROME- 3rd nerve palsy plus crossed Hemiplegia
BENEDICTS SYNDROME-3rd nerve palsy + crossed hemiplegia
+Red nucleus affection (Tremor, rigidity, ataxia on the opposite side)
BLesion in Pons
MILLARD GUBLER SYNDROME-7th nerve palsy +Crossed hemiplegia
FOVILLE SYNDROME-6th nerve palsy + 7th nerve palsy + contra lateral
Hemiplegia
B) Lesion in Medulla
JACKSON SYNDROME-12th nerve palsy + crossed hemiplegia.
16
ATAXIA
Name Age Sex Handedness Consanguinity
Chief Complaints
Swaying gait
Inability to walk
Hand movements, Involuntary movements (tremors)
Unsteadiness in reaching out for objects
Abnormal eye movements (opsoclonus / nystagmus)
Speech problems - dysarthria
ODP OF CHIEF COMPLAINTS
H/O CNS SYMPTOMATOLOGY
Higher function impairment ( speech , memory, emotional lability, scholastic
backwardness)
Regression in milestones
Cranial nerve palsies - eye / face deviation.
Motor deficits
Sensory—difficulty in vision/ feeling ground/ bladder/ bowel complaints
Headache, vomiting, convulsions, unconsciousness, altered sensorium (increased
ICT)
Gait abnormalities – High steppage gait / walking in cloud.
ETIOLOGICAL HISTORY
h/o fever with exanthem( cerebellitis---chicken pox, enteroviruses, coxsackie,influenza)
h/o drugs(piperazine citrate, anticonvulsants,streptomycin)
h/o early morning headache, vomiting, / behavioural changes/ convulsions/
unconsciousness/ altered sensorium(tumor)
h/o trauma
h/o otorrhoea/ tinnitus(vestibulitis)
h/o tingling numbness/paraesthesia/anaesthesia(peripheral neuropathy)
h/o koch’s contact (tuberculoma)
h/o similar complaints in family(hereditary)
h/o mental retardation / regression of milestones( sphingolipidoses/ Marinesco Sjogren
syndrome)
h/o birth asphyxia (ataxic cerebral palsy)
h/o diarrhea/ fat malabsorption (abetalipoproteinemia, vitamin E deficiency)
h/o visual impairment (Refsum’s)
h/s/o liver disease (Wilson’s)
h/o repeated episodes(epilepsy/ Basilar artery migraine)
h/o telengectasia(ataxia telengectasia)
h/o extrapyramidal abnormalities, breathing abnormalities , ptosis (mitochondrial
17 abnormalities)
h/o constipation /lethargy/ MR(hypothyroidism)
h/o photosensitivity reactions/abdominal pain/psychosis/ urine colour change on
standing (porphyrias)
h/o increasing head circumference (hyrocephalus)
BIRTH HISTORY , DIETARY HISTORY , DEVELOPMENTAL HISTORY
IMMUNIZATION HISTORY & SOCIOECONOMIC HISTORY
ON EXAMINATION
GENERAL
Anthropometry with interpretation
Neurocutaneous markers- telangiectasia, hemangiomas Von Hippel Landau
Skeletal-pes cavus, scoliosis (Fredrich’s ataxia)
Telengectasia
CNS EXAMINATION
Higher Functions – Speech – stacatto/ hot potato/ dysarthria
Cranial nerves
Motor examination - Tone Power Reflexes (pendular , absent (Miller Fischer variant) ,
brisk)
Sensory system
Nystagmus / opsoclonus
Cerebellar signs
Upper limbs-Tone, Past pointing, Rebound test of Gordon holmes,Intention tremor,
Postural holding test.
Lower limbs-Gait, Tandem walking, Rhomberg’s test, Pendular knee jerk, Knee heel test,
Toe to finger test.
Dysdiadokinesia
FUNDUS EXAMINATION-Retinitis pigmentosa, Papillodema, optic atrophy
OTHER SYSTEM EXAMINATION
Hepatosplenomegaly-Wilsons
Cardiac-Cardiomyopathy
DIAGNOSIS------------ …. Yr old R/L handed M/F child with acute/chronic/ progressive/
nonprogressive/recovering/ bilateral/ R/L sided truncal/ axial ataxia with/ without anyother
CNS deficits (motor/ sensory/ with/ without raised ICT) with/ without malnutrition/ trophic
changes probable etiology being -----
18 INVESTIGATIONS
Diagnosis is mainly clinical
Routine investigations +
Imaging studies, MRI ( better visualization of posterior fossa and the cerebellum)
Vitamin E levels
Nerve conduction
All investigations to rule out Neuroblastoma should be carried out (urinary VMA level,
MIBG scan , CT chest , abdomen etc.)
CAUSES OF ATAXIA
Acute
Idiopathic-acute cerebellar
ataxia
Metabolic---hypoglycemia,
hyponatremia,
hyperammonemia
Infection-bacterial and viral
meningitis, brain stem
encephalitis
Toxins
Hydrocephalus
Cerebellar lesion-SOL,
tumor, infarct
Neuroblastoma
Polyradiculopathy—guillan
barre, tick paralysis
Labyrinthitis
Brain stem SOL
Episodic
Epilepsy---postictal
Toxins
Metabolic
Basilar artery migraine
Chronic
Fixed deficit------CP,
Malformations
Degenerative----
---Friedrichs ataxia,
Charcot marie tooth,
Levy roussy
Inherited------Wilsons,
ataxia telengectasia,
sphingolipidosis.
Acquired diseases----
hypothyroidism,
neoplasia, drugs
19 DUCHENNE MUSCULAR DYSTROPHY
Name Age Sex Handedness Consanguinity
Chief Complaints - Difficulty in getting up from squatting position,
climbing stair.
Frequent falls, tripping while walking.
Toe walking.
Abnormal gait - waddling gait lordotic posture.
Swelling in calf region.
? Onset, duration, progression of weakness.
Onset early - 2-4 years.
Progressive weakness - Symmetrical proximal muscle weakness.
Development of contractures / kypho scoliosis .
Associated complaints.
- Upper limb weakness.
- Pain.
For etiology :-
- H/O. similar complaints. or complication in sib or family. (maternal uncle or
maternal aunt’s children.)
- H/O. constipation, lethargy, neck swelling, delayed milestones, (R/o.
hypothyroidism).
- H/O. drug ingestion (anabolic steroids).
- H/O. rash ,photosensitivity, (polymyositis)
- H/O. cramps, exercise intolerance (Mc ardle)
History for complications :-
H/o. repeated lower respiratory infections/ feeding difficulties, seizures, contractures,
deformities, cardiac involvement.
Family history of :-
- similar complaints. in sibs.
- Death in sibs
- Maternal aunt’s children.
- Mother c/o. weakness, calf pain, calf hypertrophy.
Birth history :-
Developmental history- H/o milestone (motor milestones may be delayed).
20 Examination :-
? Gower’s sign.
? Waddling gait.
? Toe walking.
? Supine position to sitting position.
? Detail muscle charting.
? Note of hypertrophied muscles - Gastrocnemius , Deltoid ,Brachioradialis, soleus
Tongue.
? DTR 1+ to absent
Ankle jerk present till late.
Diagnosis :-
Gradual onset slowly progressive (Insiduous)
Weakness more proximal than distal with calf hypertrophy with onset at ------year with
family history of most probably DMD.
DMD in Girls
? Turner/ mosaic
? Lyonisation.
? Manifest carrier
? Sarcoglyconaphy.
Investigations
1] CPK
SGOT, aldolase, LDH
2] EMG - low amplitude, polyphasic motor unit action potential.
3] Muscle biopsy with Dystrophin staining.
4] Genetic analysis
21 FLOPPY INFANT
Name Age sex Consanguinity Community Residence
Chief Complaints
Weakness of all 4 limbs and limpness noticed since birth.
Delayed motor and/ or mental milestones.
Abnormal posturing / contractures/ arthrogyphosis
ANTENATAL HISTORY- gravida/ para, registered ?
H/o decreased fetal movements, fever with rash, irradiation, drug exposure (lithium/
phenytoin/ carbamazepine). , polyhydramnios / prolonged labour / LSCS
PERINATAL HISTORY- breech presentation, h/o birth asphyxia, h/o limpness, feeding
difficulties, breathlessness, convulsions in neonatal period., neonatal hyperbilirubinemia
ELABORATION OF C/C.
H/O unilateral/ bilateral weakness of limbs, symmetrical or asymmetrical, sudden
onset/insidious,starting from lower limb and progressing upwards or vice versa. .
Head holding achieved/ partial.
H/O frog like posture
H/O weak cry, h/o feeding difficulties
H/O repeated cough/ cold/fever/ breathlessness
H/O facial asymmetry, pooling of secretions,nasal regurgitation/nasal
twang,dysphagia(involvement of bulbar muscles)
H/O sensory disturbances.
H/O wasting of muscles, H/O fasciculations / fibrillations.
H/O bladder/ bowel disturbances
H/O exaggerated startle (Taysach’s)
ETIOLOGY
H/O Icterus, phototherapy, exchange transfusion (kernicterus)
H/O constipation, prolonged neonatal jaundice (if MR, coarse facies for hypothyroidism)
H/O cyanosis/ altered sensorium(respiratory muscle involvement)
H/O mental development(hypotonic CP)
H/O viral infection/ascending weakness(GBS)
H/O recent vaccination /ring/ pulse polio
H/O flushing/sweating/ palpitation/ postural hypotension/ arrhythmias (dysautonomia)
H/O maternal myasthenia like illness
H/O diurnal variation (mysthenia gravis)
H/O lump in abdomen,early morning hypoglycaemic convulsions with
breathlessness(GSD – Pompe’s)
22 H/O prelacteal feeds like honey f/b bulbar weakness (botulism)
H/O nonprogressive proximal muscle weakness-----congenital myopathies
H/O involuntary movements------congenital cerebellar ataxia
H/O obesity - Prader Willi
H/O cataract/ MR- Lowes
FAMILY HISTORY- h/o deaths in infancy in sibling
MILESTONES - motor +mental
DIET & IMMUNIZATION- last vaccine given (for GBS/ polio)
EXAMINATION
Decubitus- pithed frog position.
HR----/RR------/ regular, abdominothoracic, no e/o resp. distress/BP--------
ANTHROPOMETRY with interpretation
Obesity,dysmorphic facies (Prader- Willi)
Downy facies – Trisomy 21/ Zellweger’s syndrome
Doll like faces – GSD (Pompe)
V shaped face- myotonic dystrophy
Pallor, clubbing, cyanosis, icterus, lymphadenopathy, oedema feet
Anterior fontanelle
Cataract’s(Lowe syndrome)
ENT
Skull/ spine/ genitalia(hypogonadism in prader willi)
Conntractures ,CTEV, CDH
CNS EXAMINATION
Higher functions---conscious, alert looking,recognizes others.
Cranial nerves
Tongue fasciculations
Ptosis with diurnal variation
Fundus---(cherry red spot in GSD type II)
Motor system- muscle wasting (SMA)
muscle hypertrophy(pompe/ congenital muscular dystrophy)
Hypotonia in all 4 limbs
Involuntary movements- ataxia, fasciculation/ fibrillation
Power--shoulder/ elbow/ distal/ hip/ knee/ distal
Diaphragm/ intercostals
Reflexes
Superficial-------cremasteric/ gluteal/ paraspinal reflex
Deep reflexes
Sensory system
P/A-----hepatomegaly----GSD
CVS-----cardiomegaly,murmur, abnormal heart sounds(pompe)
RS--------r/o LRTI
Orthopedic examination
23 DIAGNOSIS--------month old child M/F gradually progressive/ static quadriparesis since
birth ,decreased fetal movements ,no MR, no significant pre/ perinatal events,
generalized hypotonia, areflexia, fasciculations. Most probable diagnosis
INVESTIGATIONS
Diagnosis mainly clinical
EMG---denervation of muscle
Biopsy-----to differentiate spinal muscular atrophy from other congenital myopathies
CPK, nerve conduction, serum enzymes.
MRI – hypotonic C.P. / Congenital muscular dystrophy with MR
24 CHOREAName Age Sex Handedness Consanguinity Community
Chief complaint & ODP
Sudden onset involuntary movements involving---------- limbs
Movements are repetitive/ non repetitive
Rhythmic/nonrhythmic
Migrating from one side to another
Preset/ absent during sleep
H/o proximal/ distal musculature being involved (sydenhams chorea is
distal, minimal brain dysfunction and huntingtons chorea are proximal)
H/o inability to feed, dress, walk (hypotonia associated)
H/o emotional lability associated with it
H/o involuntary movements involving the facial muscles Grimacing ,
oromotor dyskinesia
H/o preceeding streptococcal infection occurring as early as 4 months
prior(sydenhams chorea)
H/o recurrences of choreic movements with intermittent normal
periods(sydenhams/ SLE)
H/o receiving any periodic injections or regular oral medications(penicillin
prophylaxis)
H/o facial rash/ alopecia/ oral ulcers(SLE)
H/o ataxia/ psychosis/ seizures(SLE)
H/o ingestion of drugs(phentoin, haloperidol, INH, reserpine, dextroamphetamine,
methylphenidate)
H/o language difficulties(speech becoming indistinct and at times completely absent)
H/o any major operative intervention in the past(cardiopulmonary bypass surgery)
H/o convulsions/ tetany associated with choreic movements(Fahr disease)
H/o deteriorating school performance, jaundice(Wilsons)
H/o clumsiness with frequent falls &delayed motor milestones(benign hereditary chorea)
BIRTH HISTORY H/o perinatal asphyxia( if positive , choreic movements usually become
apparent between 1st and 3rd yr of life)
FAMILY HISTORY
Family history of rheumatic fever can be elicited in 26% choreic patients. Sydenham’s
chorea is found in 3.5% parents and in 2.1% of siblings of choreic patients.
Fahr disease is transmitted as AR or AD.
DEVELOPMENT Recent onset regression if any.
DIET , IMMUNIZATION & SOCIOECONOMIC HISTORY - AS USUAL.
25 Examination
General Condition
Vitals & Anthropometry with interpretation
Type of involuntary movement-----proximal/ distal
Exacerbated by tension/ stress
Present at rest
Repetitive/ rhythmic
Voluntary/ involuntary
Disappears/ persists in sleep
? Chameleon tongue--as soon as the tongue is protruded, it returns to the mouth.
? Pronator sign-------muscular hypotonia and weakness result in the palms turning
outward when the patient holds the arms above the head.
? Choreic hand------hypotonia can be demonstrated when the arms are extended in
front of the body. The wrist flexes and the metacarpophalangeal joints are
overextended.
? Milkmaid’s grip------the child is unable to maintain muscular contraction and the
grip waxes and wanes abruptly.
CNS EXAMINATION--- Higher functions
Tone
Power
DTR----normal but patellar reflex is hung up.
Plantars
Other system examination. - CVS – e/o carditis & PA – organomegaly
INVESTIGATIONS
X- ray skull------bilateral calcifications in the region of the basal ganglia------Fahr disease
MRI-----increase in size of caudate, putamen and globus pallidusin- sydenhams chorea
Striatal hyperintensity on T2 weighted images indicating greater striatal
damage.
OPTHAL for KF- ring.
26 CAUSES OF CHOREA
Inherited
Ataxia- telengectasia
Benign hereditary chorea
Hallervorden-spatz
disease
Hereditary spinocerebellar
ataxia
Huntington disease
Inborn error of
metabolism
Glutaric academia
Propionic academia
Homocystinuria
Pyruvate carboxylase
deficiency
PKU
Sulfite oxidase deficiency
Mitochondrial
encephaloyopathies
Neuroacanthocytosis
Wilson disease
Paroxysmal
kinesiogenic
choreoathetosis
Paroxysmal
nonkinesiogenic
choreoathetosis
Vascular
AV malformations
Basal ganglia infarction or
haemmorhage
Moyamoya
Drugs
Anticholinergics
Anticonvulsants----phenytoin,
phenobarbitone,
carbamazepine.
Antidopaminergic---
phenothiazines,
haloperidol, metoclopramide
Antihistamines.
CNS stimulants-------
amphetamine ,
metylphenidate, pemoline.
Dopamine agonists--- levodopa,
pergolide, lithium, oral
contraceptives
Endocrine
Hyperthyroidism
Chorea gravidarum
Hypoparathyroidism,
Pseudohypoparathyroidism
Immune infections
Sydenham chorea
SLE
Bechet
Pertussis,diptheria, varicella
Primary APLA syndrome
Bacterial endocarditis
HSV encephalitis, HIV, infectious
mononucleosis, lyme,
mycoplasma,
viral meningoencephalitis
(mumps,measles, varicella)
Metabolic
Hypocalcemia ,
hypoglycemia
or hyperglycemia,
hypomagnesemia,
hyponatremia,
hypernatremia central
pontine myelinosis
renal failure
Miscellaneous
Cerebral palsy, head
trauma, BPD(infantile
chorea), CABG—
postpump chorea
Neoplastic
Primary and metastatic
brain
brain tumors
Primary CNS lymphoma
Nutritional
Vit B12 deficiency in
infants
Toxins
Carbon monoxide,
manganese, OPC.
27
HYDROCEPHALUS
Hydrocephalus represents a diverse group of conditions that result from impaired
circulation and absorption of CSF or in rare circumstance from increased production by a
choroids plexus papilloma.
Name Age Sex Consanguinity Handedness
Chief Complaints :
? History of progressive enlargement of head/large head noticed since
.
? History s/o raised ICT (if the onset of hydrocephalus is more than 2 yrs)
? H/O abnormal eye movements (sunsetting / roving eye movements)
O.D.P.-Details of chief complaints
Abnormalities of higher functions - scholastic backwardness, altered sensorium ,
convulsions
History s/o cranial nerve palsy –diplopia sunsetting.
History of blindness or hearing disturbance.
History of focal neurologic deficit.
H/S/O gait abnormalities (spastic gait with frequent falls)
History of bladder/bowel complaints
H/o involuntary movements
History of nausea/vomiting/head banging/headache.
History of occipital enlargement (Dandy Walker)
History of poor feeding/failure to thrive / stridor (nasal encephalocele)
Etiological History
ANTENATAL HISTORY -Infection (CMV , toxoplasma , mumps) ,Drugs-(vitamin A
toxicity-pseudo tumor) , Irradiation , Antenatal detection , presentation
BIRTH HISTORY - Prematurity /Dystocia / PROM / Instrumentation
POST NATAL HISTORY – enquire - H /O trauma , H /O infection (meningitis) , H/O
Koch’s contact , H/o prolonged hospitalization after birth, H/O hypo pigmented macule
with infantile Spasm ( Tuberous sclerosis) , H/O swelling at the back & limb weakness
FAMILY HISTORY- In males Congenital aqueductal stenosis (XLR) ,
Any sibs having similar problem?
TREATMENT HISTORY – H/o treatment taken/shunt surgery
MILESTONES – delay OR regression?
Motor and mental milestones delayed. Weak head holding due to large head.
If there is neuroregression with large head then S/O ( Krabbe/Tay sachs,,
Alexander/Canavan , Post TBM )
Diet history & Socioeconomic history.
28
EXAMINATION
Vitals- BP (hypertension because of raised ICT)
Bradycardia
Shallow respiration
Antropometry with interpretation.
Skull-a) Head circumference & Shape of the skull noted.- in terms of AP diameter,
Biparietal diameter, Frontal bossing& Occipital prominence.
b) Presence of dilated veins
c) Anterior & posterior fontanelle-(note their size, shape, borders, pulsation,
tension in sitting & supine position)
d) Sutural separation
e) Transillumination-more than 2 cm in frontal & more than 1 cm in
Occipital (it is positive only if the cerebral mantle is less than 1cm).It is positive
in massive dilatation of the ventricular system or in Dandy Walker syndrome.
f) Bruit over the head-It is positive in many cases of vein of Galen AV
malformation.
g) Prominent occiput in Dandy Walker/post fossa tumor/arachnoid cyst
h) Flat occiput in achondroplasia/Arnold Chiary Malformation
i) Craniotabes
Sunsetting (paralysis of upward gaze)
Spine-Neural tube defects. Look for tuft of hair
Others-
Neurocutaneous markers-Hypo pigmented patches in Tuberous Sclerosis
Dysmorphic features/ coarse features.
Rhizomelic shortening (achondroplasia)
IU infection (Rash/lymphadenopathy/Hepatosplenomegaly/Cataracts)
Crackpot sign.
CNS Examination-
Higher functions – sensorium , speech
Cranial nerves-Sixth nerve palsy,false localizing sign.
Vision & hearing
Motor -Spasticity is generally more in the lower limb than the upper limb.
Brisk jerks in the lower limb.
Gait-Truncal ataxia is seen in Dandy Walker.
Fundus-Papilledema , Optic atrophy , Chorioretinitis , Cherry red spot
Neonatal reflexes.
Examination of spine
Shunt side, patency , Reservoir present or absent?
INVESTIGATIONSX-
Ray skull-Calcification/sutural seperation/lacunar skull (Arnold Chiari Malformation-II)
USG skull –If the V/P ratio is more than0.33 then s/o hydrocephalus
C.T & MRI (to find the cause)
29
Intracranial CSF pressure monitoring
Others-EEG (If associated with convulsions) , Lumbar puncture ,Slit lamp examination
Angiography –To look for aneurysm of vein of Galen
To monitor complications- Hb, CBC, Urine, Lumbar puncture to rule out shunt infection
DIAGNOSIS----------months/years old child with progressive ,gradual enlargement of the
head with s/o raised ICT with/without other deficits, the mental age of the child being------
,motor age being---------Diagnosis being Hydrocephalus most probably due to -------(D/D
of hydrocephalus)
Some important points to remember in examination:
1) Measure the head circumference until a constant result around the largest diameter is
obtained
2) Take the parents head circumference.
3) Request the progressive percentiles of the child.
4) Examine the back to avoid missing spinal dysraphism.
5) Examine the lower limbs before the upper limbs because the lower limbs are affected
first in hydrocephalus as the tracts supplying them run closer to the ventricles.
6) Examine the eye movements-Lateral rectus palsy because of raised intracranial
tension/Upward gaze palsy.
Always look for the following effects of Hydrocephalus-
1) Motor-Focal deficits may be present in the opposite limb when Hydrocephalus is
associated with porencephalic cyst.
2) Eyes-Squints decreased pupillary light reflex, horizontal nystagmus, and cortical
blindness.
3) Endocrine-Precocious puberty/Delayed puberty, Short stature, Hypothyroidism,
hypopituitarism.
4) Tremors-S/O Cerebellar herniation
5) Stridor with laryngeal palsy-It is due to coning esp. when associated with Myelocele.
DIFFERENTIAL DIAGNOSIS OF HYDROCEPHALUS
1) Thickened cranium secondary to chronic anaemia, rickets, osteogenesis imperfecta
& epiphyseal dysplasia.
2) Chronic subdural collection
3) Megalencephaly due to storage of abnormal substances within the brain
parenchyma. It is seen in storage disorders/metabolic disorders/ neurocutaneous
syndromes. Neurofibromatosis & cerebral gigantism are characterized by an
increase in brain mass.
5) Familial megalencephaly
6) Hydrencephaly
30
MENINGOMYELOCELE
The term spinal dysraphism indicates Neural tube defect whereas the term
myelodysplasia indicates spinal cord malformation About 75% of patients with
meningomyelocele have hydrocephalus whereas patients with only meningocele rarely
have hydrocephalus.
The causes of hydrocephalus in MMC are- Meningitis
-Type II Arnold Chiary malformation
-Aqueductal stenosis
Name Age Sex Consanguinity Handedness
Chief Complaints :
Fluid filled swelling in the back with /without CSF leak
Convulsions / tonic spasms
Para paresis/Paraplegia
ODP of chief complaints
H/O weakness in the lower limbs
H/O muscle wasting
H/O involuntary movements /fasciculations
H/O sensory symptoms
H/O bladder /bowel involvement (retension / incontinence)
H/O Cranial nerve involvement
History of complications
H/o of CSF leak
H/o signs of raised ICT-vomiting/convulsions/increasing head
Circumference /altered sensorium
H/O infection-Fever/ Convulsions/Altered sensorium
H/O Bladder/Bowel involvement
H/O rupture of sac during birth process
ANTENATAL HISTORY-
? H/O Maternal malnutrition-s/o folic acid deficiency
? H/O drug ingestion during pregnancy -Thalidomide/valparin/ phenytoin
? H/O hair loss /Skin lesions ,s/o zinc deficiency
? H/o alcohol ingestion during pregnancy
? H/o polyhydramnios
? H/o X-Ray/ irradiation during pregnancy
? H/o maternal Diabetes Mellitus
? H/O fever/rash/ lymphadenopathy during pregnancy(s/o IU infection)
PREVIOUS OBSTETRIC HISTORY
? H/O previous fetal death
? H/O repeated abortions
? H/O mental retardation/other congenital anomalies
FAMILY HISTORY
H/O other siblings affected with similar complaints
31
EXAMINATION
A) General Physical Examination
? Vitals
? Pallor/Icterus/ Lymphadenopathy
? Anthropometry with interpretation
? Skull Examination-
? Headcircumference/transillumination/fontenelles/separation of
sutures.
? Eyes –Look for conjugate movements of eyes
? Neurocutaneous markers
B) Examination of the back
? Location, size & shape of the defect
? Leakage from the sac
Curvature of the spine/bony gibbus underlying the defect
C) CNS Examination-
Higher functions
? Spontaneous activity
? Cry/Tone/ Reflexes
? Response to sensory stimuli in all extremities
? Motor activity esp. in the lower limbs
? Examination of the Cranial nerves
? Anal reflex-May or may not be present depending on the level of lesion.
? Wasting of muscles
? Look for CDH & CTEV
D) CVS Examination-Rule out congenital heart disease
E) Abdomen-Rule out renal malformation.
INVESTIGATIONS
1) Routine investigations
2) X-Ray-Chest
-Spine
-Pelvic Joints
3) CT Scan Brain
4) MRI-If suspecting posterior fossa tumor& syringomyelia
5) Tests of Renal Functions-Urodynamic studies
-IVP
-USG of urinary tract
-MCU
6) Tests of vision & hearing
NEUROLOGIC SYNDROMES IN MMC
A) Above L3-Complete paraplegia
-Dermatomal anesthesia
-Bladder & bowel incontinence
32
B) L4 & Below-Same as for above L3 except for the preservation of hip
Flexors, hip adductors& knee extensors
-The child is ambulatory with aids, bracing or surgery
C) S1 & Below-Same as for L4 & below except for preservation of feet dorsiflexors &
partial preservation of hip extensors & knee flexors
-The child is ambulatory with minimal aids.
D) S3 & below-Normal lower extremity motor function
-Saddle Anesthesia
-Variable bladder-rectal incontinence.
33
APPROACH TO PARAPLEGIA
Before considering approach to paraplegia let us see the anatomic considerations:-
A disparity exists between vertebral and segmental spinal cord(s.c.) levels that changes
with age. Early in fetal life the s.c. extends through out the bony vertebral column, but
during later development vertebral column becomes longer than s.c. so that the caudal
end comes to lie at level L2 at birth and in adulthood at L1 ;the lowest part being conus
medullaris.Below L1 are only lumbosacral roots –the cauda equina. White matter tracks
contain ascending sensory and descending motor pathways are located peripherally,
whereas nerve cell bodies are clustered in inner region shaped like a clover leaf. S.C.
contains 31 segments each containing exiting ventral motor root and entering dorsal
sensory root (31 pairs of spinal nerves=8 cervical,12 thoracic, 5 lumbar,5 sacral, 1
coccygeal.).
The approximate relationship between S.C.segments and corresponding vertebral bodies
is as shown which is helpful in localising lesions in S.C. compression.
Spinal cord level Corresponding vertebral body
Upper cervical Same as cord level
Lower cervical 1 level higher
Upper thoracic 2 levels higher
Lower thoracic 2-3 levels higher
Lumbar T 10-12
Sacral T 12- L1
Coccygeal L 1
Vascular supply of S.C.:The anterior and posterior spinal arteries(S.A.) arise from the
vertebral arteries and travel caudally,the former in antero median fissure and the two later
along side the posterior nerve roots. These long vessels receive tributaries from the
intercostals and lumbar arteries at each spinal level.In the lumbar region one prominent
artery-Adamkiewicz is an important tributary.The ant.S.A. supplies most of the S.C.;only
the post. Parts of the post.horns and post.columns are supplied by the post. Spinal
arteries.Both ant.and post. S.A.function as anastomotic vessels linking radicular feeding
vessels.Flow may thus vary in different directions.There are two zones of watershed flow
in the cord ,one in upper thoracic between flow descending from the vertebral circulation
and flow derived from thoracic radicular feeding vessels,and other in lower thoracic region
between descending flow derived from thoracic feeding vessels and ascending flow from
artery of Adamkiewicz.These are sites of prediliction for infarction of the S.C.
Approach :
What are the presenting complaints:
Partial or complete weakness of both the legs: most commonly as result of an intraspinal
lesion at or below the upper thoracic spinal cord level or because of peripheral nerve
disease.
Is it acute or slowly progressive?
34
Acute
Trauma
Concussion , Epidural hematoma , , Fracture
dislocation , Cord transaction
Transverse myelitis
Devics disease , Encephalomyelitis
Idiopathic
Discitis
Epidural abscess
Herpes zoster myelitis
Infarction of spinal cord
Cardiogenic emboli , Hypotension
Vasculitis & Surgeries on aorta
Hematomyelia
Bleeding disorders , Vasculitis, Trauma
Intraparenchymal vascular
malformations
Extrinsic compression
Hemorrhage into subdural/epidural space
Polyradiculoneuropathy
Slowly progressive
Adrenomyeloneuropathy
Congenital malformations
A-V malformations , Arachnoid cysts ,
Caudal regression syndrome , Dysraphic
states (Chiari Malformation,
myelomeningocoele , tethered spinal cord,
Syringomyelia
Familial spastic papaplegia
Autosomal recessive / Auto. dominant /
X -linked
Infections
T.B. osteomyelitis
Tumours
Extradural(neuroblastoma)
Intradural(meningioma,neurofibroma )
Intramedullary(ependymoma)
Symptoms/-ve history that can give clue to diagnosis:
Clumsiness of gait--------------slowly progressive disorder
Refusal to stand/walk-----------acute process
Abnormal skin over spine(tuft of hair, pigmentation, sinus opening,mass)-----spinal
dysraphism
Foot deformities,stunted growth of limbs----Lower spinal cord dysfunction,tethered
cord,caudal regression syndrome
Bowel/bladder control disturbance
Ask following questions:
Is there any sense of bladder filling?
Can the patient feel the urine passing?
Can the patient stop urine passing at will?
Is there associated rectal disorder?
Is there any numbness in perineum?
Answers to above can identify following bladder problems and possible lesions
Uninhibited bladder(urgency at low bladder volume,sudden uncontrolled evacuation,no
residual urine)-----parasaggital lesions
Spinal bladder (bladder fullness not appreciated,it empties suddenly and reflexly,
incomplete evacuation,spastic bladder holding small volume urine)----spinal cord
lesion,conus lesion
Autonomous bladder(continuous dribbling incontinence,considerable residual urine
which may cause UTI,no sensation of bladder fullness,perineal numbness)---cauda
equina lesion
? Seizures,drowsiness,enlarging head,apnea,abnormal respiration----- lesion above
spinal cord like Ant cerebral artery ischaemia, parasaggital meningiomas,superior
35
sagittal sinus thrombosis, hydrocephalus(Chiari malformation),diffuse
encephalomyelitis
? History of diarrhoea/viral upper respiratory illness prior to weakness----acute
demyelinating neuropathy
? Trauma to spinal cord---conditions as described above in aetiology
? Easy fatiguability, vomiting ,diarrhoea, failure to thrive, hyperpigmentation of skin---
-adrenomyeloneuropathy
? Fever,viral illness prior to weakness, vaccination history-----transverse myelitis
Vision loss-----Devic’s disease
? Family history of progressive lower limb weakness, toe walking in child progressing
to gradual weakness of lower limbs-----Familial spastic paraplegia
? High grade fever , back pain-------discitis
? History of root irritation---radiating pain on coughing/bending back--epidural lesions
? Rash on skin dermatomal pattern----herpes zoster myelitis
? H/o suggestive of immunosuppression -recurrent diarrhoea/ LRTIs/AIDS myelitis
? Long standing fever,chronic cough, family h/o kochs, back pain,refusal to walk----
TB osteomyelitis
? Birth history of prematurity-----------spastic diplegia
? Limpness of lower extremity acutely------GBS,Transverse myelitis
? Chronic back pain, no fever--------arachnoid cysts,AV malformations
? Butterfly rash on face-----SLE
? Umbilical artery catheterization-----neonatal cord infarction
Examination of CNS
Scoliosis: Spinal cord disorders like neural tube defects,spinal cord tumours,degenerative
spinal disorders,neuromuscular disease
Higher function: Sensorium impaired in encephalomyelitis
Cranial nerves: VII commonly in GBS,II in Devics disease
Difference between S.C. and peripheral nerve lesions:
Spinal cord involvement Peripheral nerve involvement
Spasticity Symmetrical distal weakness and wasting
Dermatomal sensory loss Symmetrical distal sensory impairement
Exaggerated reflexes(except spinal shock) Loss of tendon reflexes
Level of lesion: Superficial reflexes of spinal origin for localization
Reflex Level of cord concerned
Anal S3,4
Bulbocavernosus S3, 4
Plantar S1
Cremasteric L1,2
Abdominal T7-12
The level below which sensory,motor,&/or autonomic function is disturbed is a hallmark of
S.C. disease. In general a sensory level to pinprick or temperature,indicating damage to
the spinothalamic tract,is located 1-2 segments below the actual level of a unilateral
spinal cord lesion,but it may be at the level of the lesion when bilateral.That is because
36
sensory fibres enter cord at dorsal root,synapse in dorsal horn,and then ascend
ipsilaterally for several segments before crossing just anterior to central canal to join
opposite spinothalamic tract.
Lesions that disrupt descending corticospinal and bulbospinal tracts cause paraplegia or
quadruplegia,with increasd muscle tone,exaggerated deep tendon reflexes(DTR) and
extensor planter signs.Such lesions also typically produce autonomic disturbances,with
disturbed sweating and bowel bladder disturbances.A sweat level may be determined by
drawing a spoon up the torso,there will be little resistance to movement of the spoon
along the dry,non sweating skin;at the level at which sweating begins,resistance will
suddenly increase.
The uppermost level of spinal cord lesion is often localized by attention to segmental
signs corresponding to disturbed motor or sensory innervation by an individual cord
segment.A band of altered sensation (hyperalgesia/pathia) at the upper end of the
sensory disturbance,fasciculations or atrophy in muscles innervated by one or several
segments ,or a single diminished or absent DTR may be noted. These signs may also
occur with focal root or peripheral nerve disorders;thus,segmental signs are most useful
when they occur with other signs of cord disease.
With severe and acute transeverse lesions ,there may be flaccidity of limbs rather than
spasticity (so-called spinal shock)This may last for several days ,rarely for weeks and
may be initially mistaken for extensive damage to spinal cord or polyneuropathy.
Spinal myoclonus:- Brief ,irregular contractions of small muscle groups due to irritation to
pools of motor neurons & interneurons due to syrinx or intramedullary
tumour.Dermatomal distribution shows site of irritation in spinal cord
Patterns of Spinal cord.disease:
Most fiber tracts-including the post.columns and the spinocerebellar and pyramidal tracts
–travel ipsilateral to the side of the body they innervate. Afferent fibers carrying pain and
temp. sensation ascend contralaterally as spinothalamic tract. The anatomic relationships
produce distinctive clinical syndromes.
Brown –Sequard hemicord syn.:-Ipsilateral weakness(pyramidal tract) and loss of joint
position and vibratory sense (post column),with contralateral loss of pain and temp.
sense(spinothalamic tract) below the lesion.The sensory level for pain and temp. is1-2
levels below the lesion. Segmental signs , like radicular pain ,muscle atrophy or loss of
DTR ,when occur are unilateral. Bilateral hemicord lesions are more common.
Central cord syndrome:It results from disorders of gray matter nerve cells and crossing
spinothalamic tracts near the central canal.In cervical cord it produces arm weakness out
of proportion to leg weakness and dissociated sensory loss consisting of loss of pain and
temp. in cape distribution over shoulders ,lower neck and upper trunk with intact light
touch ,joint posn and vibration. Common causes are trauma , syringomyelia,tumours and
ant. Spinal artery ischaemia.
Ant.2/3rd syndrome:-Due to bilateral extensive disease of S.C. that spares post
columns.All S.C. functions-motor ,sensory and autonomic-are lost below the level of
lesion,with the striking exception of intact vibration and position sensation.Etiology is
vascular –thromboembolism of ant. Spinal artery.
37
Intramedullary and extramedullary syndromes:
Distinguishing features are relative and serve as rough guides to clinical decision making:
Intrinsic disease Extrinsic disease
Urge incontinence/retention of urine Root pain,worse on movement
Dissociated sensory loss Early sacral sensory loss
Spinothalamic pain Progressive asymmetric spastic paraplegia
Bilateral corticospinal tract signs(late appearance) Brown –Sequard syndrome
Paraplegia and sensory level Paraplegia with sensory level
Sensation in perineal & sacral area spared Incontinance/retention of urine and faeces
Specific localizing signs:
Thoracic cord:-Lesions are best localized by identification of sensory level on the
trunk.Sensory dermatomes of the body are shown in fig.2,useful markers are at
pages (T4) and umbilicus(T10).Weakness of legs and disturbances of bladder ,bowel
function may accompany.Abdominal wall musculature,supplied by lower thoracic cord , is
observed during movements of respiration or coughing or by asking patient to interlock
fingers behind the head in supine posn and attempt to sit up.Lesions at T9-T10 paralyse
the lower ,but spare the upper abdominal muscles resulting in upward movement of
umbilicus( Beevor’s sign) and loss of lower but not upper superficial abdominal
reflexes.Midline backpain is a useful localizing sign in the thoracic region.
Lumbar cord:Lumbar and sacral cord segments progressively decrease in size ,focal
lesions of these segments are less easily localized than in cervical and thoracic regions.
Lesion at L2-L4 paralyse flexion and adduction of the thigh,weaken leg extension at knee
and abolish patellar reflex.Lesions at L5-S1 paralyse movements of foot and ankle,flexion
at knee and extension of thigh and abolish ankle jerk(S1).Cremasteric reflex(L1-
L2)localizes lumbar cord disease.
Sacral cord/conus medullaris
Isolated lesions of conus spare motor and reflex functions in the legs.Conus syndrome is
distinctive-Bilateral saddle anesthesia(S3-S5),prominent bowel and bladder dysfunction
(urinary retention and incontinence with lax anal tone).Bulbocavernosus (S2-S4) and anal
(S4-5) reflexes are absent.Muscle strength is largely preserved.
Cauda equina lesions are characterized by severe low back or radicular pain, asymmetric
leg weakness or sensory loss , variable areflexia in lower extremities , and relative
sparing of bowel and bladder functions.Mass lesions in lower spinal canal may produce
mixed clinical picture-cauda and conus syndromes
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Guillian Barre Syndrome
It is an important cause of acute flaccid paralysis (AFP)–a collection of clinical syndromes
manifested by an acute inflammatory polyradiculopathy with resultant weakness and
reflex changes.
Name Age Sex Consanguinity Handedness
Chief complaint
History of weakness in limbs-AFP which is acute onset of flaccid paralysis (<2 months)
? Unilateral /Bilateral weakness of limbs
? Bilaterally symmetrical or asymmetrical weakness
? Where does it start:From lower limbs and progresses upwards or vice versa
? Sudden or insidious onset
? Proximal or distal weakness
? Involvement of upper or lower limb
? Involvement of respiratory muscles: anxious expression, difficulty in breathing,
inability to speak without frequent pauses
? Involvement of bulbar muscles-pooling of secretions in mouth, nasal
regurgitation/nasal twang, dysphagia,dysarthria
Associated history/-ve history:
Higher function abnormalities (sensorium, speech)
Cranial nerve deficit: facial asymmetry,drooling saliva from angle of mouth(VII N);
nasal twang,regurgitation(IX,X N),diplopia,eye movements(III,IV,VI N)
Sensory disturbances-tingling numbness, pain.
Abnormal gait / posture( tripod sign)
Bladder/bowel disturbance
Autonomic disturbances:flushing,sweating ,palpitations, postural hypotension
Ataxia ,involuntary movements
Wasting of muscles
H/S/O increased intracranial pressure
Etiological history:
Diarrhoeal /upper respiratory illness weeks prior to paralysis----GBS
Immunisation -OPV, IM injection & fever prior to paralysis –(-Polio )
Paralysis early morning after food ingestion,previous history or familial history of
paralysis----Periodic papalysis
Throat pain ,dysphagia,neck swelling(bull neck)---Diptheria
Consumption of honey/tinned food ( botulism)
H/O drug intake – vincristine , vinblastine
H/O pica (heavy metal intoxication (lead))
H/O trauma to spine
H/O polyuria / polydipsia / weight loss (DM)
H/O fever with exanthem(herpes, mumps , rubella, entero/ EBV)H/O pain swelling
Birth, Immunisation history (especially OPV),
Developmental, dietary history
Examination:
Decubitus especially of lower limbs—Demonstate flaccidity
Vital parameters: Heart rate,Blood pressure for autonomic dysfunction
Throat---patch for diptheria
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Anthropometry with interpretation
Blue line on gums NC markers
Spine
CNS
? Drooping of shoulder s/o diaphragmatic paralysis
? Fasciculations
? Thickened nerves
? Reflexes Superficial – important as in case of transverse myelitis for level of the
lesion
? Signs of meningeal irritation
Features suggestive of GBS are
? Ascending weakness,symmetrical involvement
? Lower limbs involved before upper limbs
? Proximal involvement earlier than distal
? Weakness progressing over days to weeks with peak maximally at 4 weeks
? Deep tendon reflexes absent even before paralysis.
? Cranial nerves: common VII nerve
? If abnormal gait(ataxia) with eye movements impaired(opthalmoplegia)---Miller
Fischer variant
? Bladder distension
Other variants:
? The acute motor axonal neuropathy (AMAN) variant has pure motor symptoms -
very similar clinical presentation to patients with the demyelinating form of GBS
with ascending symmetric paralysis.
? The axonal form of GBS, also referred to as acute motor-sensory axonal
neuropathy (AMSAN), often presents with rapid and severe paralysis with delayed
and poorer recovery .
? A pure sensory variant of GBS , typified by rapid onset of sensory loss and
areflexia in a symmetric and widespread pattern.
? Acute pandysautonomia without significant motor or sensory involvement is a rare
presentation of GBS. Dysfunction of the sympathetic and parasympathetic systems
results in severe postural hypotension, bowel and bladder retention, anhidrosis,
decreased salivation and lacrimation, and pupillary abnormalities.
? The pharyngeal-cervical-brachial variant is distinguished by isolated facial,
oropharyngeal, cervical, and upper limb weakness without lower limb involveme