| Phenotype details |
see paper; ..., no abnormalities during pregnancy; normal delivery; birth term; severe intellectual disability; developmental delay, severe, cannot follow commands; motor delay, unable to stand; speech delay, non-verbal at age 16y; epilepsy, complex partial seizures: prolonged staring spells with arm stiffening and turning to the left side, separate episodes of myoclonic jerks or staring spells with perioral cyanosis., initially responsive to topiramate, but now generally medically refractory (some effect of clonazepam); EEG abnormal, 9y-poor organiozation, slow background consistent with at least a moderate encephalopathy in addition to polyspike and slow wave discharge. During sedation: Poorly organized posterior basic rhythm, poorly developed theta with very prominent beta activity superimposed. Anteriorly very prominent beta predominates. During sleep: EEG normal well-formed sleep architecture seen. Intermittent periods of rhythmic bifrontal alpha waves are seen. Bursts of high amplitude polyspike and wave discharges seen, as often as every 3-4 seonds. Electrographic onset, characterized by bifrontal alpha rhythmic activity, precedes the myoclonic jerks by several seconds; general hypotonia; can sit with support but generally reclines; no spasticity; 1y-10y-extreme irritability; sleep disturbances until age 12, she experienced cyclic episodes of sleep disturbances consisting of 2 weeks of relatively normal sleep and 2 weeks with poor sleep and crying all night. Many improvement mproved since 12y; 9y-MRI brain diffuse mild prominence of the ventricular system and subarachnoid spaces; encephalopathy, frequent desaturation episodes.; high forehead, she does look dysmorphic but hard to pinpoint anything; widely spaced teeth, but normal count, upper front teeth large and protruding; a lot of drooling, enjoys chewing but cannot digest much, mother needs to control portions; no hearing abnormalities; difficult to diagnose is non-communicative, initial diagnosis delayed visual maturation, later cortical visual impairment; small persistent ductus arteriorus, not requiring surgery; delayed bone age, otherwhise no abnormalities known; no hypermobility joints; delayed stomach emptying per baryum assessment, vomiting after eating too much or too rich food; no urogenital abnormalities, 14y-spontaneous puberty; normal skin, normal hair, normal nails; no neoplasms |
