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Sphingomyelinase Deficiency Differential Diagnoses

  • Author: Lynne Ierardi-Curto, MD, PhD; Chief Editor: Bruce Buehler, MD  more...
Updated: Mar 27, 2014
Contributor Information and Disclosures

Lynne Ierardi-Curto, MD, PhD Attending Physician, Division of Metabolism, Children's Hospital of Philadelphia

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Intellectual and Developmental Disabilities, American College of Medical Genetics and Genomics, American Association for Physician Leadership, American Medical Association, Nebraska Medical Association

Disclosure: Nothing to disclose.


James Bowman, MD Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago

James Bowman, MD is a member of the following medical societies: Alpha Omega Alpha, American Society for Clinical Pathology, American Society of Human Genetics, Central Society for Clinical Research, and College of American Pathologists

Disclosure: Nothing to disclose.

David Flannery, MD, FAAP, FACMG Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia

David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics and American College of Medical Genetics

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

  1. Camoletto PG, Vara H, Morando L, et al. Synaptic vesicle docking: sphingosine regulates syntaxin1 interaction with Munc18. PLoS ONE. 2009. 4(4):e5310. [Medline].

  2. Jenkins RW, Canals D, Hannun YA. Roles and regulation of secretory and lysosomal acid sphingomyelinase. Cell Signal. 2009 Jun. 21(6):836-46. [Medline].

  3. Ambrosio C, Serra S, Alexandre M, Malcata A. [Arthralgia, bone pain, positive antinuclear antibodies and thrombocytopenia...diagnosis: Niemann-Pick disease]. Acta Reumatol Port. 2009 Jan-Mar. 34(1):102-5. [Medline].

  4. Cho YU, Chae JD, Lee WM, et al. [A Case of a Korean Adult Affected by Type B Niemann-Pick Disease: Secondary Sea-blue Histiocytosis and Molecular Characterization.]. Korean J Lab Med. 2009 Apr. 29(2):97-103. [Medline].

  5. Rodriguez-Pascau L, Gort L, Schuchman EH, Vilageliu L, Grinberg D, Chabas A. Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients. Hum Mutat. 2009 Mar 18. [Medline].

  6. [Guideline] Langlois S, Wilson RD. Carrier screening for genetic disorders in individuals of Ashkenazi Jewish descent. J Obstet Gynaecol Can. 2006 Apr. 28(4):324-43. [Medline]. [Full Text].

  7. Simonaro CM, Desnick RJ, McGovern MM, Wasserstein MP, Schuchman EH. The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. Am J Hum Genet. 2002 Dec. 71(6):1413-9. [Medline]. [Full Text].

  8. Vykuntaraju KN, Lokanatha H, Shivananda. Niemann-Pick disease type A presenting as unilateral tremors. Indian Pediatr. 2012 Nov. 49(11):919-20. [Medline].

  9. Wasserstein MP, Aron A, Brodie SE, Simonaro C, Desnick RJ, McGovern MM. Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. J Pediatr. 2006 Oct. 149(4):554-9. [Medline].

  10. Shah AJ, Kapoor N, Crooks GM, Parkman R, Weinberg KI, Wilson K, et al. Successful hematopoietic stem cell transplantation for Niemann-Pick disease type B. Pediatrics. 2005 Oct. 116(4):1022-5. [Medline].

  11. McGovern MM, Lippa N, Bagiella E, Schuchman EH, Desnick RJ, Wasserstein MP. Morbidity and mortality in type B Niemann-Pick disease. Genet Med. 2013 Aug. 15(8):618-23. [Medline].

Autosomal recessive inheritance pattern.
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