Neuronal ceroid lipofuscinosis (NCL) presenting in two different forms within a family is reported from the New York State Office of Mental Retardation and Developmental Disabilities, Institute for Basic Research, 10560 Forest Hill Rd, Staten Island, NY and the Dept of Neurology, Albert Einstein Coll of Med, Bronx, NY. In the proband, the clinical course was compatible with an atypical juvenile form of NCL, beginning with ataxia and spasticity at 4 to 5 yrs, and followed by blindness with optic atrophy, intractable seizures, dementia, and death at 14 yrs. Areflexia, hypotonia, and ataxia were atypical manifestations, suggesting peripheral nervous system involvement similar to that in her two affected siblings. The illness in the siblings, a brother and a sister, showed a more protracted course, a later age of onset (8.5 and 10.5 yrs), more severe cerebellar and cortico-spinal signs, and sensorimotor neuropathy; seizures, dementia and visual loss were lacking. All 3 siblings had cytoplasmic inclusion bodies characteristic of the juvenile form of NCL and increased excretion of urinary dolichol. The authors propose that either variability of gene expression or two different recessive genes in this consanguinous family may account for the divergent phenotypes in the proband and siblings. [1]

COMMENT. The diagnosis of neuronal ceroid lipofuscinosis (Batten's disease, Spielmeyer-Vogt-Sjogren syndrome, Kufs' disease) is based on characteristic clinical manifestations, ultrastructural fingerprint cytoplasmic inclusion bodies in the rectal biopsy, punch skin biopsy, and buffy coat of lymphocytes, and elevated urinary dolichol excretion as a biochemical marker. Although the clinical course and manifestations were atypical, the patients in this study exhibited the cytoplasmic inclusions seen in the juvenile variant of ceroid lipofuscinosis. These cases include an unusual presentation as a spino-cerebellar degeneration.