Autopsy and Case Reports
https://autopsyandcasereports.org/article/doi/10.4322/acr.2017.019
Autopsy and Case Reports
Article / Autopsy Case Report

A second reported malignancy in a patient with Morquio syndrome

Ameer Hamza; Sidrah Khawar; Ahmad Ibrahim; Jacob Edens; Crystal Lalonde; Robert D. Danforth

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Abstract

Morquio syndrome is a rare lysosomal storage disease that affects multiple organ systems. However, it is rarely associated with malignancy. We present the case of a 30-year old man with Morquio syndrome associated with gastric adenocarcinoma. This case also demonstrates two other findings that have not been previously described in patients with Morquio syndrome - malrotation of brainstem and cerebellum, without clinical neurologic deficit, and persistence of fetal lobulation in the kidneys.

Keywords

Lysosomal storage diseases; Mucopolysaccharidosis IV; Stomach Neoplasm

References

1. Matalon R, Arbogast B, Dorfman A. Deficiency of chondroitin sulfate N-acetylgalactosamine 4-sulfate sulfatase in Maroteaux-Lamy syndrome. Biochem Biophys Res Commun. 1974;61(4):1450-7. PMid:4218107. http://dx.doi.org/10.1016/S0006-291X(74)80446-8. 

2. Nelson J, Kinirons M. Clinical findings in 12 patients with MPS IV A (Morquio’s disease). Further evidence for heterogeneity. Part II: dental findings. Clin Genet. 1988;33(2):121-5. PMid:3129222. http://dx.doi.org/10.1111/j.1399-0004.1988.tb03422.x. 

3. Jenkins P, Davies GR, Harper PS. Morquio Brailsford disease: a report of four affected sisters with absence of excessive keratan sulphate in the urine. Br J Radiol. 1973;46(549):668-75. PMid:4199240. http://dx.doi.org/10.1259/0007-1285-46-549-668. 

4. Massachusetts Medical Society. Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 4-1991 — An 18-Year-Old Man with Morquio’s Syndrome and a Tumor of the Right Femur. N Engl J Med. 1991;324(4):251-9. http://dx.doi.org/10.1056/NEJM199101243240408. PMid:1898672.

5. Wraith JE. Lysosomal disorders. Semin Neonatol. 2002;7(1):75-83. PMid:12069540. http://dx.doi.org/10.1053/siny.2001.0088. 

6. Tager JM. Inborn errors of cellular organelles: an overview. J Inherit Metab Dis. 1987;10(Suppl 1):3-10. PMid:3119939. http://dx.doi.org/10.1007/BF01812842. 

7. Nelson J. Incidence of the mucopolysaccharidoses in Northern Ireland. Hum Genet. 1997;101(3):355-8. PMid:9439667. http://dx.doi.org/10.1007/s004390050641. 

8. Appleqvist H, Wäster P, Kågedal K, Öllinger K. The lysosome: from waste bag to potential therapeutic target. J Mol Cell Biol. 2013;5(4):214-26. PMid:23918283. http://dx.doi.org/10.1093/jmcb/mjt022. 

9. Rosenbloom BE, Weinreb NJ, Zimran A, Kacena KA, Charrow J, Ward E. Gaucher disease and cancer incidence: a study from the Gaucher Registry. Blood. 2005;105(12):4569-72.  PMid:15718419. http://dx.doi.org/10.1182/blood-2004-12-4672. 

10. Lo SM, Stein P, Mullaly S, et al. Expanding spectrum of the association between type 1 Gaucher disease and cancers: a series of patients with up to 3 sequential cancers of multiple types – correlation with genotype and phenotype. Am J Hematol. 2010;85(5):340-5. http://dx.doi.org/10.1002/ajh.21684. PMid:20425796.

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;15(8):618-23. PMid:23412609. http://dx.doi.org/10.1038/gim.2013.4. 

12. Stockler S, Kleinert R, Ebner F, Paschke E. Mucopolysaccharidosis I and intracranial tumor in a patient with high-pressure hydrocephalus. Pediatr Radiol. 1993;23(5):353-4. PMid:8233684. http://dx.doi.org/10.1007/BF02011955. 

13. Patriquin H, Lefaivre JF, Lafortune M, Russo P, Boisvert J. Fetal lobation. An anatomo-ultrasonographic correlation. J Ultrasound Med. 1990;9(4):191-7. PMid:2184242. http://dx.doi.org/10.7863/jum.1990.9.4.191. 


Publication date:
06/29/2017

59550c1a0e8825605324dc1e autopsy Articles
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