medigraphic.com
Órgano Oficial del Instituto Nacional de Pediatría

2017, Number 3

<< Back Next >>

Acta Pediatr Mex 2017; 38 (3)

Niemann Pick disease type-A: presentation of 12 cases

Zarco-Román J, Romero-Gómez HE, Carbajal-Rodríguez L

Language: Spanish
References: 37
Page: 152-164
PDF size: 456.84 Kb.


ABSTRACT

Introducción: Niemann Pick disease type A (ENP-A) is a lysosomal storage disease caused by a deficit of acid sphingomyelinase enzyme (ASM), which results in the accumulation of sphingomyelin in cells of the reticuloendothelial and central nervous system.
Objetive: We describe the clinical course of the ENP-A in twelve patients, three boys and nine girls, between the ages of 3-33 months.
Material and Methods: The retrospective study was based on the medical files of the 12 patients, evaluated with a complete physical and ophthalmologic examination, as well as laboratory tests, abdominal ultrasound, computed tomography (CT) or magnetic resonance imaging (MRI) of the brain, chest radiography, echocardiography, EEG, upper gastrointestinal series, and bone age. Information about intercurrent diseases and causes of death, were obtained.
Results: The symptoms started at 5.9 months (2-16 months) and the definitive diagnosis was made at the age of 15.6 months (3-33 months) through suggestive clinical manifestations, with a presence of foam cells in the bone marrow of 12/12 patients (100%) and ASM enzyme deficiency in 12/12 patients (100%); hepatic biopsy was suggestive in 5/12 (41.6%). Clinical signs in order of frequency were: hepatosplenomegaly and neurological disease in 12/12 (100%), lung disorder 11/12 (91.6%), hematologic affection 9/12 (80%), cherry-red spot 9/12 (75%), bone involved 6/12 (50%), and cardiac disease 4/12 (33.3%). Only 4 cases (33.3%) were consanguineous.
Conclusion: The clinical course of the ENP-A is very similar among affected patients; the first clinical manifestation detected was hepatosplenomegaly. The first 4 months of life of the patients were asymptomatic; then they showed a neurodegenerative course that leads to death before reaching the age of 3 years.


REFERENCES

  1. McGovern MM, Aron A. Natural history of Type A NiemannPick disease: posible endpoints for therapeutic trials. Neurology. 2006;66(2):228-32.

  2. Niemann A. Ein unbekanntes Krankheitsbild. Jahrbuch für Kinderheilkunde, Berlin, N F. 1914;79:1-10.

  3. Pick L. Der Morbus Gaucher und die ihmähnlichen krankheiten (die lipoid zellige Splenohepatomegalie Typus Niemann und die diabetische Lipoidzellenhypoplasie der Milz). Ergebenisse der Inneren Medizin und Kingderheilkunde, Berlin 1926;29:519-27.

  4. Crocker C, Farber S. Niemann-Pick disease: A review of eighteen patients. Medicine, Baltimore, 1958;37:1-95.

  5. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders JAMA. 1999 Jan 20;281(3):249-54.

  6. Acuña M, Martínez P, Moraga C, He X, Moraga M, Hunter B, et al. Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B. Eur J Hum Genet. 2015 Feb;24(2):208-13.

  7. Simonaro CM1, 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.

  8. Graver D. Accurate Differentiation of Neuronopathic and Nonneuronopathic Forms of Niemann-Pick Disease by Evaluation of the Effective Residual Lysosomal Sphingomyelinase Activity in Intact Cells. J Neurochem 1994;63:1060-8.

  9. McGovern MM1, Wasserstein MP, Aron A, Desnick RJ, Schuchman EH, Brodie SE. Ocular manifestations of Niemann-Pick disease type B. Ophthalmology. 2004 Jul;111(7):1424-7.

  10. McGovern MM. Acid Sphingomyelinase Deficiency. En: Gene Reviews 2006;9:28.

  11. 11 Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F; NP-C Guidelines Working Group. Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab. 2012 Jul;106(3):330-44.

  12. Desnick JP, Kim J, He X, Wasserstein MP, Simonaro CM, Schuchman EH. Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann- Pick disease. Mol Med. 2010 Jul-Aug;16(7-8):316-21.

  13. Schuchman EH. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. J Inherit Metab Dis. J Inherit Metab Dis. 2007 Oct;30(5):654-63.

  14. Mihaylova V, Hantke J, Sinigerska I, Cherninkova S, Raicheva M, Bouwer S,et al. Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation. Brain. 2007 Apr;130(4):1050-61.

  15. Irun P, Mallén M, Dominguez C, Rodriguez-Sureda V, Alvarez-Sala LA, Arslan N, Bermejo N, Guerrero C, et al. Identification of seven novel SMPD1 mutations causing Niemann–Pick disease types A and B. Clin Genet. 2013 Oct;84(4):356-61.

  16. Bayever E, August CS, Kamani N, Ferreira P, Wenger D, Krivit W. Allogeneic bone marrow transplantation for Niemann-Pick disease (type IA). Bone Marrow Transplant. 1992;10(1):85-6.

  17. Daloze P, Delvin EE, Glorieux FH, Corman JL, Bettez P, Toussi T. Replacement therapy for inherited enzyme deficiency: liver orthotopic. Am J Med Genet. 1977;1(2):229-39.

  18. Vanier MT, Rousson R, Garcia I, Bailloud G, Juge MC, Revol A, Louisot P. Biochemical studies in Niemann-Pick disease. III. In vitro and in vivo assays of sphingomyelin degradation in cultured skin fibroblasts and amniotic fluid cells for the diagnosis of the various forms of the disease. Clin Genet. 1985 Jan;27(1):20-32.

  19. Wasserstein MP, Desnick RJ, Schuchman EH, Hossain S, Wallenstein S, Lamm C, McGovern MM. The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study. Pediatrics. 2004 Dec;114(6):672-7.

  20. Vanier MT. Niemann-Pick disease type C. Orphanet of Rare Disease. 2010;5:1-18.

  21. Vanier M T. Niemann-Pick disease. HandbClin Neurol. 2013;113:1717-21.

  22. Mohammed MS, Nova Scotia Niemann Pick Disease (Type D) Clinical Study of 20 cases. J Child Neurol. 1998;13:75-78.

  23. Macauley SL, Sidman RL, Schuchman EH, Taksir T, Stewart GR. Neuropathology of the acid sphingomyelinase knockout mouse model of Niemann-Pick A disease including structure-function studies associated with cerebellar Purkinje cell degeneration. Exp Neurol. 2008 Dec;214(2):181-92.

  24. Aureli M, Prioni S, Mauri L, Loberto N, Casellato R, Ciampa MG, Chigorno V, Prinetti A, Sonnino S. Photoactivable sphingosine as a tool to study membrane microenvironments in cultured cells. J Lipid Res. 2010 Apr;51(4):798-808.

  25. Dodge JC, Clarke J, Treleaven CM, Taksir TV, Griffiths DA, Yang W, Fidler JA, Passini MA, Karey KP, Schuchman EH, Cheng SH, Shihabuddin LS. Intracerebroventricular infusion of acid sphingomyelinase corrects CNS manifestations in a mouse model of Niemann-Pick A disease. Exp Neurol. 2009 Feb;215(2):349-57.

  26. Shihabuddin LS, Numan S, Huff MR, Dodge JC, Clarke J, Macauley SL, Yang W, Taksir TV, Parsons G, Passini MA, Gage FH, Stewart GR. Intracerebral transplantation of adult mouse neural progenitor cells into the Niemann-Pick-A mouse leads to a marked decrease in lysosomal storage pathology. J Neurosci. 2004 Nov 24;24(47):10642-51.

  27. Suchi M, Dinur T, Desnick RJ, Gatt S, Pereira L, Gilboa E, Schuchman EH. Retroviral-mediated transfer of the human acid sphingomyelinase cDNA: Correction of metabolic defect in cultured Niemann-Pick disease cells. Proc Natl AcadSci USA. 1992 Apr 15;89(8):3227-31.

  28. Dodge JC, Clarke J, Song A, Bu J, Yang W, Taksir TV, et al. Gene transfer of human acid sphingomyelinase corrects neuropathology and motor deficits in a mouse model of Niemann-Pick type A disease. Proc Natl Acad Sci USA. 2005 Dec 6;102(49):17822-7.

  29. Schuchman EH. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. J Inherit Metab Dis. 2007 Oct;30(5):654-63.

  30. Guillemot N, Troadec C, de Villemeur TB, Clément A, Fauroux B. Lung Disease in niemann-Pick Disease. PediatrPulmonol. 2007 Dec;42(12):1207-14.

  31. Hollak CE1, de Sonnaville ES, Cassiman D, Linthorst GE, Groener JE, Morava E, Wevers RA, et al. Acidd sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients Mol Genet Metab. 2012 Nov;107(3):526-33.

  32. McGovern M, Tilla P, Deckelbaum R, Simpson W. Lipid abnormalities in children with types A and B Niemann Pick Disease. J Pediatr. 2004;145:77-81.

  33. Salinas Velasco. Revisión de tema y presentación de caso Enfermedad de Niemann-Pick: A propósito de un caso, Revista chilena de Pediatría, 2009;6(2):718-918.

  34. Vanier MT, Rousson R, Garcia I, Bailloud G, Juge MC, Revol A, Louisot P. Biochemical studies in Niemann-Pick disease. III. In vitro and in vivo assays of sphingomyelin degradation in cultured skin fibroblasts and amniotic fluid cells for the diagnosis of the various forms of the disease. Clin Genet. 1985 Jan;27(1):20-32.

  35. Harzer K, Rolfs A, Bauer P, Zschiesche M, Mengel E, Backes J, Kustermann-Kuhn B, Bruchelt G, van Diggelen OP, Mayrhofer H, Krägeloh-Mann I. Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K. Neuropediatrics. 2003 Dec;34(6):301-6.

  36. Ries M, Schaefer E, Lührs T, Mani L, Kuhn J, Vanier MT, Krummenauer F, Gal A, Beck M, Mengel E. Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C. J Inherit Metab Dis. 2006 Oct;29(5):647-52.

  37. Higami S, Omura K, Nishizawa K, Yamashita T, Tada K. Prenatal diagnosis and fetal pathology of Niemann-Pick disease. Tohoku J ExpMed. 1978;125(1):11-7.




2020     |     www.medigraphic.com