Volume 57, Issue 2 pp. 155-159
I. Clinical and Pathological Studies
Full Access

Pigment variant of neuronal ceroid-lipofuscinosis

Hans Hilmar Goebel M.D.

Corresponding Author

Hans Hilmar Goebel M.D.

Division of Neuropathology, University of Mainz, Mainz

Division of Neuropathology, University of Mainz Medical Center, Langenbeckstrasse 1, 55131 Mainz, GermanySearch for more papers by this author
Filippo Gullotta

Filippo Gullotta

Departments of Neuropathology, University of Münster, Münster

Search for more papers by this author
Thomas Bajanowski

Thomas Bajanowski

Forensic Medicine, University of Münster, Münster

Search for more papers by this author
Flemming Juul Hansen

Flemming Juul Hansen

Department of Neuropediatrics, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

Search for more papers by this author
Heiko Braak

Heiko Braak

Department of Anatomy, University of Frankfurt, Frankfurt, Germany

Search for more papers by this author
First published: 5 June 1995
Citations: 8

Abstract

A 6-year-old girl had progressive ataxia, and visual disturbances resulting in blindness. She died in her sleep at age 22 years. She shared with her sister and paternal relatives bilateral pes cavus deformities and impaired deep-tendon reflexes which suggested Charcot-Marie-Tooth disease. Her sister, who also had both polyneuropathy and a progressive central nervous system (CNS) disease, did not have pigmentary retinopathy. At autopsy, the patient was found to have neuronal ceroid-lipofuscinosis (NCL) marked by intraneuronal accumulation of autofluorescent granular lipopigments in ballooned perikarya and conspicuous extraneuronal pigmentation of subcortical grey matter, but without axonal spheroids. These findings indicate a pigment variant of NCL and represent one of very few patients recorded. The ultrastructure of the intraneuronal pigments was uniformly granular, while that of the extraneuronal pigments found within processes of the neuropil and glial perikarya was more variegated.

In addition to those patients with the pigment variant of NCL, described earlier by Jakob and Kolkmann [1973: Acta Neuropathol (Berl) 26:225–236], and Jervis and Pullarkat [1978: Neurology 28:500–503], our patient shared clinical symptoms with those described in a family afflicted with polyneuropathy and NCL by Wisniewski et al. [1987: J Child Neurol 2:33–41].

Currently, it is unclear whether these families harbor different genetic diseases or whether they have similar atypical forms of juvenile NCL (JNCL). We conclude that the spectrum of pigment variants in lysosomal diseases is heterogeneous: only few and recently described patients have had NCL, while others most likely had other forms of lipidosis. © 1995 Wiley-Liss, Inc.

The full text of this article hosted at iucr.org is unavailable due to technical difficulties.