Skeletal dysplasia, intracerebral calcifications, optic atrophy, hearing impairment, and mental retardation: Nosology of dysosteosclerosis

Abstract

A girl who presented at 3 months of life with severe developmental delay, blindness, and hearing impairment was found to have intracerebral calcifications. Skeletal films showed craniotubular bone modeling consistent with dysosteosclerosis. The nosology of this disorder is discussed.

Dysosteosclerosis: a report of three new cases and evolution of the radiological findings

“…However, these patients are not usually anaemic. 15 Clinically, the facial features in osteopetrosis consist of macrocephaly and a square shaped head, frontal bossing, ptosis, and strabismus. Progressive pressure on cranial nerves leads to optic atrophy, deafness, and facial palsy.…”

Neurologic abnormalities in the skeletal dysplasias: A clinical and radiological perspective

“…Beginning in adolescence, decreased visual acuity, optic atrophy, and facial palsy [Chitayat et al, 1992]. These findings are not seen in the dominant form of osteopetrosis.…”

The Aicardi-Goutieres syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).

“…On its own, intracerebral calcification is not a particularly good diagnostic handle and an extensive list of nearly 100 causes was supplied in a case report of a child with dysosteosclerosis. 15 Fortunately, though, the vast majority of these listed syndromes are easily distinguished if the Aicardi-Goutieres syndrome is defined as a severe, progressive encephalopathy diagnosed shortly after birth with calcification in the basal nuclei and chronic excess of white cells in Comment Different autosomal recessive varieties, for example, early onset Cockayne syndrome'6 or encephalopathy with growth hormone deficiency." Necropsy important to identify autosomal recessive sudanophilic leucodystrophies (MIM 260600) Sporadic disorders,' antenatal and perinatal history frequently uninformative but non-progressive neurological signs and absence of progressive brain atrophy on neuroimaging are highly suggestive Autosomal recessive Aicardi-Goutieres syndrome: encephalopathy with white matter disease and progressive brain atrophy Autosomal recessive inheritance: note similarity of cases'2'4 to Aicardi-Goutieres.…”