Autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophy
A 26-year-old female presented with epilepsy from 7 years of age. She also had a reduced vision from early childhood. Her initial generalized tonic clonic seizures later evolved as brief tonic right upper limb posturing suggestive of mesial frontal originating seizures. Magnetic resonance imaging (MRI) brain revealed BFP [Figure –]. EEG showed left parasagittal central-frontal spikes without focal slowing. Seizures were controlled on a combination of carbamazepine and clobazam.\nShe was born of second degree consanguineous parentage. Her antenatal, natal, and immediate postnatal periods were normal. There was a mild global delay in achieving some of her milestones. She completed her schooling with an average performance. There was no family history of similar illness in up to three generations other than her brother who had similar visual problems.\nShe had marfanoid body habitus. Head circumference was 54.5 cm, height 171 cm, and arm-span 177 cm. No skeletal or spinal deformities were evident. Cognitive skills were average without problems for routine daily activities. Neurologically, eye movements were normal. No focal neurological deficits were evident. Other systemic examination was normal.\nUncorrected visual acuity was counting finger close to face bilaterally. Slit lamp examination revealed infero-temporal subluxation of the lens in the right eye [Figure , and ]. Indirect ophthalmoscopy showed attached retina with optic disc pallor. There was diffuse retinal pigment epithelium (RPE) atrophy with tessellated background, arteriolar attenuation, and choroidal sclerosis in both the eyes []. There were no RPE clumps or bony spicules. At 3 weeks review, the previously subluxed lens in the right eye had dislocated into the vitreous. Full field electroretinogram (ERG) showed reduced amplitude of scotopic (75-80%) and photopic responses (60-70%).\nHemogram, renal and liver functions, serum homocysteine, arterial blood gas, ammonia, lactate, aminoacidogram (urine and serum), ultrasonography of abdomen, electrocardiogram and echocardiography were normal.