Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S).
A 20-month-old girl with developmental delay, dysmorphic features, horizontal supranuclear gaze palsy, retrocollis, and episodes of laryngospasm was diagnosed with variant neuronopathic Gaucher disease. The diagnosis was made enzymatically. Mutation analysis showed compound heterozygosity for D409H and a previously unreported mutation C16S. The presence of dysmorphic features, laryngospasm, absent cardiac findings, and the severe clinical phenotype distinguishes our case from other cases of variant neuronopathic Gaucher disease. We therefore propose to extend the spectrum of variant Gaucher disease.
Bodamer
Olaf A F
OA
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
Church
Heather J
HJ
Cooper
Alan
A
Wraith
J Ed
JE
Scott
C Ronald
CR
Scaglia
Fernando
F
D019943:Amino Acid Substitution; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005776:Gaucher Disease / Q000201:enzymology / Q000235:genetics / Q000473:pathology*; D005962:Glucosylceramidase / Q000172:deficiency* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007826:Laryngismus / Q000473:pathology*; D008297:Male; D009154:Mutation
D005962:Glucosylceramidase