Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease.

Abstract

OBJECTIVE:

To document the prevalence of neurologic disease in Niemann-Pick disease (NPD) NPD-B.

STUDY DESIGN:

Sixty-four patients with NPD-B had detailed neurologic and ophthalmologic evaluations. The presence of neurologic abnormalities was compared with genotype.

RESULTS:

Nineteen of 64 patients (30%) had neurologic abnormalities, which were minor and nonprogressive in 14 (22%), and global and progressive in 5 (8%). In these five patients, the onset of neurologic difficulties occurred between 2 and 7 years of age and was associated with peripheral neuropathy, retinal abnormalities, and the Q292K mutation. No patients with at least one copy of DeltaR608 had neurologic involvement.

CONCLUSIONS:

The majority of patients with NPD-B have no neurologic abnormalities. In patients with neurologic abnormalities, the findings can be minor and static or severe and progressive. The latter phenotype follows a course distinct from that of classic NPD-A and is associated with the Q292K mutation and characteristic retinal findings. Thus, similar to other lysosomal storage disorders, there is a broad spectrum of neurologic abnormalities in acid sphingomyelinase deficiency, which makes the current classification scheme inaccurate.

• Authors: Melissa P Wasserstein, Alan Aron, Scott E Brodie, Calogera Simonaro, Robert J Desnick, Margaret M McGovern
• Journal: The Journal of pediatrics (J Pediatr) Vol. 149 Issue 4 Pg. 554-9 (Oct 2006) ISSN: 0022-3476 [Print] United States
• PMID: 17011332 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural)

Topics

• Adolescent
• Adult
• Aged
• Child
• Child, Preschool
• Female
• Humans
• Infant
• Male
• Middle Aged
• Nervous System Diseases (epidemiology, etiology, genetics)
• Niemann-Pick Diseases (complications, genetics)
• Phenotype
• Prevalence