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Neurol India. 2019 May-Jun;67(3):783-786. doi: 10.4103/0028-3886.263230.

Infantile form of Niemann-Pick disease type C with demyelination: An uncommon feature.

Author information

1
Department of Pediatrics (Pediatric Nephrology Unit), Postgraduate Institute of Medical Education and Research, Chandigarh, India.
2
Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
3
Department of Radiodiagnosis, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Abstract

Demyelination, neurofibrillary tangles, and axonal spheroids are neuropathological features rarely encountered in infantile form of Niemann-Pick disease type C compared to swollen neurons and neuronal loss which are more commonly seen. We describe clinico-pathological findings in an autopsy case of an infant who died of suspected inborn error of metabolism. At autopsy, storage cells of Niemann-Pick type were observed in plenty in spleen and lymph nodes, and sparsely in liver and brain. Preterminally, the child also developed fungal meningitis with minimal boderzone encephalitis. The neuropathological findings are unique and have been illustrated in detail.Congenital anomaly of the urogenital system was an incidental associated finding.

KEYWORDS:

Autopsy; Niemann-Pick type C; demyelination; late infantile form

PMID:
31347555
DOI:
10.4103/0028-3886.263230
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