ASSOCIATION OF INFANTILE NEUROAXONAL DYSTROPHY AND OSTEOPETROSIS - A RARE AUTOSOMAL RECESSIVE DISORDER

The association of neuroaxonal dystrophy and osteopetrosis is reported in 2 siblings born to non-consanguineous parents. The Ist child was d iagnosed as having infantile osteopetrosis shortly after delivery. A c omputed tomography scan of the head revealed agenesis of the corpus ca llosum. She died at the age of 9 months. Post-mortem examination showe d pneumonia and bony sclerosis. Neuropathological examination revealed cerebral atrophy, ventricular dilation, absence of the corpus callosu m, and a small hippocampus. Neuroaxonal spheroids were found in hippoc ampus, basal ganglia, pens, medulla, spinal cord, cranial nerves, cere bellum, and peripheral nerves. Ultrastructural examination revealed me mbranous cytoplasmic bodies and electron-dense granular deposits withi n the neuroaxonal spheroids as well as the soma of neurons. The 2nd ch ild was delivered at 36 weeks of gestation because of intrauterine fet al distress. The diagnosis of osteopetrosis and partial agenesis of th e corpus callosum was made shortly after delivery. The child died at 1 month without an autopsy. There are rare cases reported previously wi th the association of neuroaxonal dystrophy and osteopetrosis. We revi ew these cases and compare them with ours.