Growth restriction in children with type B Niemann-Pick disease

Melissa P. Wasserstein, Alexandra E. Larkin, Ronald B. Glass, Edward H. Schuchman, Robert J. Desnick, Margaret M. McGovern

Research output: Contribution to journalArticle

32 Citations (Scopus)

Abstract

Objectives: To compare growth of children with type B Niemann-Pick disease (NPD) with disease variables including genotype, organomegaly, bone age, and serum insulin-like growth factor-1 (IGF-1). Study design: A cross-sectional analysis of growth was performed in 23 children and adolescents with enzymatically and genotypically confirmed NPD. Liver and spleen volumes were measured by quantitative computed tomography and skeletal age by a wrist radiograph. Results: The mean Z scores for height and weight were -1.24 (29th percentile) and -0.75 (34th percentile). The mean liver and spleen volumes were 2.06 and 13.46 times normal for weight, respectively. Skeletal age was delayed by an average of 2.5 years, and serum IGF-1 level was at or below the 2nd percentile in S of 12 patients. Short stature and low weight were significantly correlated with large organ volumes, delayed bone age, and low IGFq-1 levels. In contrast to patients with other mutations, individuals homozygous for the ΔR608 mutation had normal height and weight, markedly less hepatosplenomegaly and bone age delay, and normal IGF-1 levels. Conclusions: Abnormal linear growth and delayed skeletal maturation are common in children and adolescents with type B NPD; however, homozygosity for ΔR608 is associated with normal growth.

Original languageEnglish (US)
Pages (from-to)424-428
Number of pages5
JournalJournal of Pediatrics
Volume142
Issue number4
DOIs
StatePublished - Apr 1 2003
Externally publishedYes

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Type B Niemann-Pick Disease
Somatomedins
Weights and Measures
Growth
Bone and Bones
Spleen
Niemann-Pick Diseases
Mutation
Organ Size
Liver
Wrist
Serum
Cross-Sectional Studies
Genotype
Tomography

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Wasserstein, M. P., Larkin, A. E., Glass, R. B., Schuchman, E. H., Desnick, R. J., & McGovern, M. M. (2003). Growth restriction in children with type B Niemann-Pick disease. Journal of Pediatrics, 142(4), 424-428. https://doi.org/10.1067/mpd.2003.113

Growth restriction in children with type B Niemann-Pick disease. / Wasserstein, Melissa P.; Larkin, Alexandra E.; Glass, Ronald B.; Schuchman, Edward H.; Desnick, Robert J.; McGovern, Margaret M.

In: Journal of Pediatrics, Vol. 142, No. 4, 01.04.2003, p. 424-428.

Research output: Contribution to journalArticle

Wasserstein, MP, Larkin, AE, Glass, RB, Schuchman, EH, Desnick, RJ & McGovern, MM 2003, 'Growth restriction in children with type B Niemann-Pick disease', Journal of Pediatrics, vol. 142, no. 4, pp. 424-428. https://doi.org/10.1067/mpd.2003.113
Wasserstein MP, Larkin AE, Glass RB, Schuchman EH, Desnick RJ, McGovern MM. Growth restriction in children with type B Niemann-Pick disease. Journal of Pediatrics. 2003 Apr 1;142(4):424-428. https://doi.org/10.1067/mpd.2003.113
Wasserstein, Melissa P. ; Larkin, Alexandra E. ; Glass, Ronald B. ; Schuchman, Edward H. ; Desnick, Robert J. ; McGovern, Margaret M. / Growth restriction in children with type B Niemann-Pick disease. In: Journal of Pediatrics. 2003 ; Vol. 142, No. 4. pp. 424-428.
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