Pediatric Neurology
Paediatric questions hinge on age-specific syndromes, developmental milestones, and knowing when investigation is unnecessary.
Seizures and epilepsy syndromes
- Febrile seizures occur between 6 months and 5 years. Simple febrile seizures last under 15 minutes, are generalised and occur once in 24 hours; they need no routine EEG, imaging or daily antiepileptic drug, and antipyretics do not prevent recurrence.
- West syndrome: 3 to 12 months, flexor spasms in clusters, hypsarrhythmia, developmental arrest. Treat urgently with ACTH or vigabatrin, the latter first line in tuberous sclerosis.
- Lennox-Gastaut syndrome: multiple seizure types, slow spike-wave, often valproate.
- Dravet syndrome: SCN1A mutation, prolonged febrile hemiclonic seizures; sodium channel blockers such as carbamazepine and lamotrigine worsen it.
Development and static encephalopathy
Cerebral palsy is a non-progressive motor disorder from an early insult; spastic diplegia is typical after prematurity. Milestones: sits at 6 to 8 months, walks at 12 to 18 months, single words at 12 months, two-word phrases by 2 years.
Neuromuscular disease
Duchenne muscular dystrophy is X-linked, with Gowers sign, calf pseudohypertrophy, high creatine kinase and absent dystrophin; steroids slow decline and cardiomyopathy needs monitoring. Spinal muscular atrophy results from SMN1 loss and is treated with nusinersen or risdiplam.
Worked example
A 7-month-old has clusters of head nods and has stopped reaching for toys. EEG shows hypsarrhythmia. This is infantile spasms, a developmental emergency: arrange MRI and genetic testing and start ACTH or vigabatrin without delay.
Traps
Starting long-term antiepileptic drugs after a simple febrile seizure; missing a hearing test in delayed speech; calling a floppy infant cerebral palsy without checking creatine kinase.