PIGMENT VARIANT OF NEURONAL CEROID-LIPOFUSCINOSIS

A 6-year-old girl had progressive ataxia, and visual disturbances resu lting 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 sug--- gested Charcot-Marie-T ooth disease. Her sister, who also had both polyneuropathy and a progr essive central nervous system (CNS) disease, did not have pigmentary r etinopathy, At autopsy, the patient was found to have neuronal ceroid- lipofuscinosis (NCL) marked by intraneuronal accumulation of autofluor escent granular lipopigments in ballooned perikarya and conspicuous ex traneuronal pigmentation of subcortical grey matter, but without axona l spheroids, These findings indicate a pigment variant of NCL and repr esent one of very few patients recorded. The ultrastructure of the int raneuronal pigments was uniformly granular, while that of the extraneu ronal pigments found within processes of the neuropil and glial perika rya was more variegated, In addition to those patients with the pigmen t variant of NCL, described earlier by Jakob and Kolkmann [1973: Acta Neuropathol (Berl) 26:225-236], and Jervis and Pullarkat [1978: Neurol ogy 28:500-503], our patient shared clinical symptoms with those descr ibed in a family afflicted with polyneuropathy and NCL by Wisniewski e t 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 s pectrum of pigment variants in lysosomal diseases is heterogeneous: on ly few and recently described patients have had NCL, while others most likely had other forms of lipidosis. (C) 1995 Wiley-Liss, Inc.