Familial bilateral periventricular nodular heterotopia mimics tuberous sclerosis.
A mother and daughter with an initial diagnosis of tuberous sclerosis are described. The daughter presented with partial seizures at the age of 8 months. Computed tomography showed uncalcified periventricular nodules which on magnetic resonance imaging were ovoid, almost contiguous, of grey matter density, and did not enhance with gadolinium. Brain imaging of her asymptomatic mother was similar. Absence of severe mental retardation, extracranial hamartomas, and depigmented patches distinguishes familial bilateral periventricular nodular heterotopia (FNH) from tuberous sclerosis. FNH is probably inherited as an X linked dominant with lethality in males.
Jardine
P E
PE
Department of Neurology, Royal Manchester Children's Hospital.
Clarke
M A
MA
Super
M
M
D000328:Adult; D001927:Brain Diseases / Q000175:diagnosis* / Q000235:genetics; D002552:Cerebral Ventricles; D002828:Choristoma / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D014057:Tomography, X-Ray Computed; D014402:Tuberous Sclerosis / Q000175:diagnosis*