Familial (autosomal recessive) microcephaly is characterized by the following EXCEPT

Correct Answer: D

Rationale: Familial autosomal recessive microcephaly, or primary microcephaly, featura small head size with a slanted forehead , prominent nose and ears due to relative facial sparing, and mild or borderline mental retardation from reduced brain volume. Surface convolutional markings may be simplified. Prominent seizur, however, are not a hallmark; seizurmay occur but are not a defining or consistent feature, unlike in secondary microcephaly (e.g., from infection). Thus, D is the exception and correct answer, as familial microcephaly primarily affects head size and cognition rather than causing significant epileptiform activity.

Correct Answer: D

Rationale: Benign myoclonic epilepsies, like juvenile myoclonic epilepsy, respond best to valproate , a broad-spectrum antiepileptic that stabilizsodium channels and enhancGABA, effectively controlling myoclonic jerks. Clonazepam and other benzodiazepinare adjunctive, with sedation limiting use. Lamotrigine may worsen myoclonus in some cases, and topiramate is less preferred due to cognitive side effects. Valproatefficacy across myoclonic syndromes, supported by clinical trials, makes D the correct answer, balancing effectiveness and tolerability in this condition.

Correct Answer: B

Rationale: Diazepam is lipophilic, aiding brain penetration, and has higher seizure recurrence due to short duration. It risks apnea and hypotension in neonatand is not first-line (E is false as stated). However, it is not cleared quickly ; neonathave immature liver metabolism, prolonging its half-life (up to 50-100 hours), unlike adults. This slow clearance increastoxicity risk, making B the exception and correct answer, as it contradicts diazepams pharmacokinetics in neonates.

Correct Answer: C

Rationale: SWS port-wine stain is congenital , usually unilateral , and follows the trigeminal nervophthalmic division , often with neurologic sequelae (E is false as stated). It donot always involve the upper face/eyelid ; while common, stains can spare this area and still cause SWS if in V1-V2 distribution. This variability makes C the exception and correct answer, clarifying that upper face involvement is frequent but not mandatory.

Correct Answer: C

Rationale: Increased intracranial pressure (ICP) in infants caushead circumference growth , bulging fontanel , vomiting , and setting sun sign due to CSF or mass effects. Failure to thrive is not a direct sign; it may occur secondary to chronic illness but isnt specific to ICP. This distinction direct pressure signs versus systemic effects makes C the exception and correct answer.