| Phenotype details |
see paper; ..., no abnormalities during pregnancy; normal delivery; birth term; developmental delay, global; motor delay; speech delay; no dysarthria; epilepsy, 2-3m-intractable infantile-onset tonic epilepsy, downwards tucking of chin, upward rolling of eyes, motionless and unresponsive for 10-15 second, short post-ictal period of 30 seconds, evolved to medically intractable tonic seizures, seizures now under control with ketogenic diet; EEG abnormal, tonic seizure activity, summary of 2 day video/EEG monitoring: Background normal; epileptiform abnormalities: Right frontocentral spike discharges; Events: EEG normalne; central hypotonia; no spasticity; no ataxia; happy disposition but cries a lot, autism spectrum disorder concerns; severe sleep disturbances: awakens at least every 2 hours, waking up at 04:00, and then not going back to sleep until 06:00. During daytimes, naps are infrequent, and if napping, only very shortly (30 minutes); MRI brain subarachnoid space enlargement; no regression; Yes (dyskinesias of hand and feet: Intermittent abnormal body movements, during sleep twisting wrist behind body); bracycephalic, wide round face, full cheeks, asymmetry around orbits and nasal bridge, eyes downslanting similar to mother's, normal pupils, very large, normal shaped ears, normal placement and no rotation, midface hypoplasia, palate intact; oral aversion and oralpharyngeal dysphagia requiring G-tube placement; normal audiology evaluation; visual inattention, poor eye tracking, evaluated by ophalmology, reports, new concerns for optic nerve hypoplasia; no cardiac abnormalities; no skeletal abnormalities, no limb abnormalities; G-tube in place, on ketogenic diet, intermittent constipation; substantial suprapubic fat pad, stretched penile length 2.5cm, testes non-palpable on the L and in the inguinal canal R; metabolic acidosis related to ketogenic diet and topiramate treatment; no neoplasms; normal serum alkaline phosphatase levels (168 U/L) |
