Osteopetrosis and infantile neuroaxonal dystrophy.
Incidence
It seems to be inherited as autosomal recessive versus. contiguous gene syndrome.
Clinical Characteristics
Osteopetrosis mainly on the severe form has several features such as anemia, pallor and large liver and spleen and marble bones. Often there is blindness as well and X-ray characteristic findings. A few cases have been reported having infantile osteopetrosis associated with abnormal CT scan, showing cerebral atrophy and agenesis of the corpus callosum. Neuroaxonal spheroids were found. Patients usually died in early infancy. Laboratory testing include finding of spheroids (neuroaxonal spheroids) in different parts of CNS and peripheral nerves.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
Radiological findings. Laboratory testing include finding of spheroids (neuroaxonal spheroids) in different parts of CNS and peripheral nerves.