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Toronto Notes 2019 Neurology
• posturalmaneuvers
■ traction response: pull to sit, look for flexion of arms to counteract traction and head lag
■ axillary suspension: suspend infant by holding at axilla and lifting; hypotonic babies will slip
through grasp because of low shoulder girdle tone
■ ventral suspension: infant is prone and supported under the abdomen by one hand; infant should be
able to hold up extremities; inverted “U” posturing demonstrates hypotonia • dysmorphicfeatures,cognitiveability,reflexes,strength
Investigations
• ruleoutsystemicdisorders(e.g.electrolytes,ABG,bloodglucose,CK,andserum/urineinvestigations for multiple etiologies including mitochondrial causes)
• neuroimaging:MRI/MRAwhenindicated
• EMG,musclebiopsy/NCS
• chromosomeanalysis,genetictesting,metabolictesting,neuromusculartesting
Management
• dependsonetiology:sometreatmentsavailableforspecificdiagnosis
• counselparentsonprognosisandgeneticimplications
• referpatientsforspecializedcare,referforrehabilitation,OT,PT,assessfeedingability
Neurocutaneous Syndromes
Definition
• characterizedbytendencytoformtumoursoftheCNS,PNS,viscera,andskin
NEUROFIBROMATOSIS TYPE I
• autosomaldominantbut50%aretheresultofnewmutations
• alsoknownasvonRecklinghausendisease
• incidence1:3,000,mutationinNF1geneon17q11.2(codesforneurofibrominprotein) • learningdisorders,abnormalspeechdevelopment,andseizuresarecommon
• diagnosisofNF-1requires2ormoreof:
■ ≥6 café-au-lait spots (>5 mm if prepubertal, >1.5 cm if postpubertal) ■ ≥2 neurofibromas of any type or one plexiform neurofibroma
■ ≥2 Lisch nodules (hamartomas of the iris)
■ optic glioma
■ freckling in the axillary or inguinal region
■ a distinctive bony lesion (e.g. sphenoid dysplasia, cortical thinning of long bones) ■ a first degree relative with confirmed NF-1
• managementinvolvestreatmentofdiseasemanifestationsastheyoccur,aswellasgeneticcounselling, OT, PT, and speech therapy as needed
NEUROFIBROMATOSIS TYPE II
• autosomaldominant
• incidence1:33,000
• characterizedbypredispositiontoformintracranial,spinaltumours
• diagnosedwhenbilateralvestibularschwannomasarefound,orafirst-degreerelativewithNF-2
and either unilateral vestibular schwannoma, or any two of the following: meningioma, glioma,
schwannoma, neurofibroma, posterior subcapsular lenticular opacities • treatmentconsistsofmonitoringfortumourdevelopmentandsurgery
Recurrent Headache
• seeNeurology,N44 Differential Diagnosis
• primaryheadache:tension,migraine,cluster • secondaryheadache:seeNeurology,N45
General Assessment
• ifunremarkablehistoryandneurologicalandgeneralphysicalexamisnegative,mostlikelydiagnosisis migraine or tension headache
• CTorMRIifhistoryorphysicalrevealsredflags
• inquireaboutlevelofdisability,academicperformance,after-schoolactivities
Pediatrics P77
In neurocutaneous syndromes, the younger the child at presentation, the more likely they are to develop intellectual disability
Headache – Red Flags
• First and worst headache of their life • Sudden onset
• Focal neurological deficits
• Constitutional symptoms
• Worse in morning
• Worse with bending over, coughing,
straining
• Change in LOC
• Sudden mood changes
• Pain that wakes patient
• Fatigue
• Affecting school attendance