Severe Type II Gaucher disease with ichthyosis, arthrogryposis and neuronal apoptosis: Molecular and pathological analyses

Severe infantile Gaucher disease associated with ichthyosis and neonatal de ath is a rare subgroup of Type II Gaucher disease. This group of infants ha s little, if any, detectable beta-glucocerebrosidase activity, and prior ge netic analyses have been limited in detecting the mutations responsible for this phenotype. We document an Hispanic infant succumbing with arthrogrypo sis and collodion membrane covering the skin who had no detectable beta-glu cocerebrosidase activity in tissue samples and who was homozygous for a rar e recombinant allele, RecNciI. Microscopic evaluation demonstrated accumula tion of Gaucher cells in visceral organs and extensive loss of neurons in t he anterior horns, brainstem, and cortex of the nervous system. The apoptos is of neuronal cells from the anterior horns and brainstem are a reasonable explanation for the arthrogryposis and neonatal death, respectively. (C) 2 000 Wiley-Liss, Inc.