Amish Infantile Epilepsy in an Indian Child

Abstract

AbstractConsanguineous marriages in India continue to give rise to a wide spectrum of recessively inherited disorders that require a broader base of knowledge. A 2-year-old boy presented with global development delay, persistent vomiting, drug refractory seizures, deafness, and central hypotonia. He had profound bilateral hearing loss, barium swallow showed severe reflux but magnetic resonance imaging brain was normal, leading to a diagnostic dilemma. A normal electromyogram with nerve conduction velocity ruled out disorders of muscle and nerve. Whole-exome sequencing showed salt and pepper development regression syndrome but phenotypically, he did not have the classic skin changes. He has shown mild improvement in cognition, mobility, and weight gain with citicoline, antireflux medications, antiseizure medications, and a protein diet. Accurate diagnosis based on cohort of symptoms and appropriate early intervention can help improve the quality of life in such children.