BGDD

1

male

dhaka

Missense

X chromosome, exon 9

c.1319 G>A

P.Arg440His

The patient was a one year and six-month-old boy presented with the complaints of frequent seizure since six months of age and delay in development. Seizure was initially in the form of epileptic spasms, occurring in clusters, 4-10 clusters per day, 5-8 spasms in each cluster. The spasm was flexor in nature. It was not precipitated by fever or any other stimuli. He also had delay in almost all domains of development: gross motor, fine motor, cognition and speech. His hearing and vision was intact. With the onset of seizure, there was further regression of motor skill. Gradually at 1 year age, the pattern of seizure changed, he developed generalized tonic-clonic type of seizure occurring 2-4 times daily, persisting for about 1-5 minutes. Family history revealed that, the boy was the only issue of non-consanguineous parents, none of his family members have similar type of illness. He was delivered by caesarean section, there was no perinatal adverse events, he was born in term with average birth weight. He achieved his neck control at 6 month of age, started to bubble monosyllables at 7 month of age. On examination, he had microcephaly, aphathic face, there was no definite dysmorphism.

The patient was treated with various antiepileptic drugs: vigabatrin, topiramate, sodium valproate, levetiracetum, clonazepam, etc. With the above drugs he was seizure was controlled. He was also supplemented with glycine, L-arginine and creatine monohydrate. He was offered physiotherapy, occupational therapy and speech therapy. The parents were counseled regarding the future pregnancy risk.

In neurological examination, he had generalized hypotonia, muscle power was 3/5 in all 4 limbs, deep tendon reflexes were preserved and there was extensor planter response. Developmental assessment; gross motor: he only had partial control of neck (<3 months), fine motor: could not reach to toys or hold any object (<4 months), speech: only cooing, no babbling (<3 months), cognition: could not recognize mother, only social smile present (around 2 months), vision: fix and follow was present, hearing: startles with sound, could not localize sound. Magnetic resonance imaging (MRI) of brain showed cortical atrophy with periventricular hyperintensity . EEG showed poverty of normal activity in the background, burst suppression pattern (burst of epileptic discharges for 1-3 seconds – followed by attenuation): suggestive of epileptic encephalopathy.