Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration

Billard et al. (1989) described apparently monozygotic twins (their patients 13 and 14) who suffered from mild and nonprogressive mental retardation without motor deficit or visual disorders, but with moderate dysmorphia, craniosynostosis, and small stature due to growth hormone deficiency. CT scan showed dense calcifications of the inner aspects of the lenticular nuclei and ventricular dilatation.

Bonnemann et al. (1991) described 2 sibs with an encephalopathy, including intracerebral calcification and white matter lesions, dwarfism owing to growth hormone deficiency, and retinal degeneration. The onset of the disease in both sisters occurred with retardation of motor development during the first year of life. Later, dwarfism, mental retardation, spasticity, ataxia, and retinal degeneration became apparent. Differentiation from Cockayne syndrome (see 216400) is essential.