Clinical Pediatrics

 

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Clinical Pediatrics, Vol. 34, No. 4, 190-197 (1995)
DOI: 10.1177/000992289503400404

Marked Heterogeneity in Niemann-Pick Disease, Type C

Clinical and Ultrastructural Findings

Marvin R. Natowicz, M.D., Ph.D.

Divisions of Medical Genetics and Biomedical Sciences, E.K. Shriver Center for Mental Retardation, Waltham, Massachusetts, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts

Joan M. Stoler, M.D.

Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts

Elizabeth M. Prence, Ph.D.

Divisions of Medical Genetics and Biomedical Sciences, E.K. Shriver Center for Mental Retardation, Waltham, Massachusetts, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts

Laura Liscum, Ph.D.

Department of Physiology, Tufts University School of Medicine, Boston, Massachusetts

Niemann-Pick disease type C (NP-C) is an autosomal recessive lysosomal lipid storage disorder of unknown etiology. Diagnosis of NP-C is based on characteristic clinical findings and reduced fibroblast esterification of LDL-derived cholesterol. We describe three patients who demonstrate the NP-C spectrum of clinical heterogeneity in age of onset, presenting signs, pattern of organ system involvement, and natural history. In addition, electron microscopic analysis of skin biopsy specimens from these patients revealed marked variability in the extent and cellular distribution of intralysosomal storage and was suggestive of the correct diagnosis in only one case. These cases demonstrate both the limitations of electron microscopy for diagnosis of NP-C and the marked clinical variability in patients with this disorder. Practical clinical guidelines for appropriate suspicion of NP-C are presented.


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