A case of infantile subacute necrotizing encephalomyelopathy with mammillary bodies involvement was reported.
The patient was 3-year-10 month old boy. His parents had consanguinity of cousins, and his elder sister was blind. He developed normally, until the gait disturbance began at 2 years 7 months of age. His gait was spastic and became impossible at 2 years 9 months.
On examination the patient had general hypotonia, spastic diplegia, bilateral optic atrophy and eczema in the face and head. He died at 3 years 10 months of age.
In necropsy, the gross examination of the CNS revealed stagnant meninges. On section of the brain the focal colored lesions were present bilaterally in the periventricular or periaqueductal regions of thalamus, hypothalamus including mammillary bodies, midbrain, pons and medulla oblongata, and in the cingulate gyrus and hypocampal gyrus of the cerebral cortex. Sections through various levels of the spinal cord showed symmetrical lesions involving the posterior, anterior and lateral columns.
Histological examination revealed in lesions the following 1. spongy degeneration or tissue necrosis, 2. intense vascular dilation and capillary proliferation with thick walls of fibrous tissue, 3. little degeneration of nerve cells in the grey matter, 4. demyelination in the spinal cord.
The spongy changes of ground substance were spread more widely than prominent capillary vascularity with thick walls. Therefore the capillary proliferation and fibrous proliferation of the capillary walls may develop in the spongy state after breakdown of ground substance.
