Multiple endocrinopathies in an infant with fatal neurodegenerative disease

Abstract

We report on a male infant with congenital hypoparathyroidism who developed primary hypothyroidism at 3 months and insulin-dependent diabetes mellitus at 25 months. He had evidence of widespread and progressive neurologic dysfunction characterized by severe developmental delay, blindness, deafness, seizures, atrophy of the cerebellar and frontal lobes, and elevated spinal fluid protein. Also noted were renal hypoplasia, hyporeninemic hypoaldosteronism, chronic anemia, persistent elevation of liver transaminase levels, abnormal intraventricular cardiac conduction, reduction in numbers of helper T-cells, and distinctive facial anomalies. The child died of multiorgan failure at 29 months. A mitochondrial basis for the syndrome was considered but a molecular mechanism has, as yet, not been identified.

Familial Idiopathic Hypoparathyroidism, Sensorineural Deafness and Renal Dysplasia.

“…The mother had a normal serum calcium concentration, but the father's serum calcium level was not measured. A male infant with congenital hypoparathyroidism, who developed insulin-dependent diabetes mellitus, subsequently suffered widespread and progressive neurodegeneration and severe developmental delay, involving deafness and bilateral renal hypoplasia (16). The audiography results of the present patient and two family members showed varying degrees of hearing loss.…”