| Phenotype details |
Myoclonic seizures. Inguinal herna, hydrocele, strabismus. Global DD. Dysmorphic features (prominent forehead, high arched eyebrows and sparse on the outer third, nystagmus, mild telecanthus, uplifted ear lobes, open mouth with intermittent drooling). Pectus excavatum, clinodactyly involving the fifth digits, 4th and 5th toes bilaterally. reducible umbilical hernia, mild hepatomegaly, and ataxic gait. Brain MRI showed symmetrical bilateral patchy signal abnormalities in the periventricular zones in the parietal, occipital and frontal regions, white matter loss, and thin corpus callosum. Elevated ALP (968 U/L). No skin abnormalities. Normal hearing and heart evaluations. Normal Vitamin E and alpha-fetoprotein. |
