eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases

Sialidosis (Mucolipidosis I): Follow-up

Author: Karl S Roth, MD, Professor and Chair, Department of Pediatrics, Creighton University School of Medicine
Coauthor(s): William B Rizzo, MD, Professor, Department of Pediatrics, University of Nebraska Medical Center; Margaret McGovern, MD, PhD, Vice Chair, Professor, Department of Human Genetics, Mount Sinai School of Medicine
Contributor Information and Disclosures

Updated: Aug 4, 2008

Follow-up

Complications

  • As with any progressive neurologic disease, patients with sialidosis are at risk for recurrent infections and aspiration pneumonia.
  • Renal involvement has been reported in a few cases of sialidosis and has been thought to be a result of generalized visceral storage.
  • Although no reports have been described in sialidosis, atlantoaxial instability may develop because of abnormally shaped cervical vertebrae. If this occurs, patients should be observed and eventually surgically stabilized to avoid the risk of spinal cord injury.

Prognosis

  • In patients with type II infantile onset, psychomotor retardation and neurologic deterioration is progressive, and death from cardiorespiratory complications usually occurs by the second decade of life.

Patient Education

  • Care must be taken to educate families about the genetic basis of this disorder, including recurrence risks, identification of carriers, and the availability of prenatal diagnosis for future at-risk pregnancies.

Miscellaneous

Special Concerns

  • Counsel families of patients with sialidosis about the recurrence risks of an autosomal recessive disorder.
  • In addition, the availability of prenatal diagnosis for future offspring should be discussed.
  • The diagnosis of sialidosis can be made by the measurement of alpha-N -acetyl neuraminidase (sialidase) in fresh or cultured amniotic fluid cells or chorionic villi samples.
 
Acknowledgments

The authors and editors of eMedicine gratefully acknowledge the contributions of previous author Grace Y Lee, MD, to the development and writing of this article.



More on Sialidosis (Mucolipidosis I)

Overview: Sialidosis (Mucolipidosis I)
Differential Diagnoses & Workup: Sialidosis (Mucolipidosis I)
Treatment & Medication: Sialidosis (Mucolipidosis I)
Follow-up: Sialidosis (Mucolipidosis I)
References
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References

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  2. Bonten EJ, Arts WF, Beck M, et al. Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis. Hum Mol Genet. Nov 1 2000;9(18):2715-25. [Medline]. [Full Text].

  3. Fowler DJ, Anderson G, Vellodi A, Malone M, Sebire NJ. Electron microscopy of chorionic villus samples for prenatal diagnosis of lysosomal storage disorders. Ultrastruct Pathol. Jan-Feb 2007;31(1):15-21. [Medline].

  4. Burin MG, Scholz AP, Gus R, et al. Investigation of lysosomal storage diseases in nonimmune hydrops fetalis. Prenat Diagn. Aug 2004;24(8):653-7. [Medline].

  5. Cibis GW, Tripathi RC, Harris DJ. Mucolipidosis I. Birth Defects Orig Artic Ser. 1982;18(6):359-80. [Medline].

  6. Kelly TE, Bartoshesky L, Harris DJ, et al. Mucolipidosis I (acid neuraminidase deficiency). Three cases and delineation of the variability of the phenotype. Am J Dis Child. Aug 1981;135(8):703-8. [Medline].

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  8. Loren DJ, Campos Y, d'Azzo A, et al. Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase. J Perinatol. Jul 2005;25(7):491-4. [Medline].

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  14. Thomas GH. Disorders of glycoprotein degradation: alpha-mannosidosis, beta-mannosidosis, fucosidosis, and sialidosis. The Metabolic & Molecular Bases of Inherited Disease. 2001;III:3507-3533.

  15. Young ID, Young EP, Mossman J, et al. Neuraminidase deficiency: case report and review of the phenotype. J Med Genet. May 1987;24(5):283-90. [Medline].

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Further Reading

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Keywords

sialidosis, mucolipidosis type I, ML I, neuraminidase deficiency, sialidosis type I, sialidosis type II, sialidosis, sialidase deficiency, lipomucopolysaccharidosis, deficiency of alpha-N -acetyl neuraminidase, skeletal dysplasia, psychomotor retardation, cherry-red spot-myoclonus syndrome, myoclonic epilepsy, hydrops fetalis, hepatomegaly, myoclonus, hepatosplenomegaly, Hurler phenotype, short stature, ascites, dysostosis multiplex

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Contributor Information and Disclosures

Author

Karl S Roth, MD, Professor and Chair, Department of Pediatrics, Creighton University School of Medicine
Karl S Roth, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Nutrition, American Pediatric Society, American Society for Clinical Nutrition, American Society of Nephrology, Association of American Medical Colleges, Medical Society of Virginia, New York Academy of Sciences, Sigma Xi, Society for Pediatric Research, and Southern Society for Pediatric Research
Disclosure: Nothing to disclose.

Coauthor(s)

William B Rizzo, MD, Professor, Department of Pediatrics, University of Nebraska Medical Center
William B Rizzo, MD is a member of the following medical societies: American Society of Human Genetics and Society for Inherited Metabolic Disorders
Disclosure: Nothing to disclose.

Margaret McGovern, MD, PhD, Vice Chair, Professor, Department of Human Genetics, Mount Sinai School of Medicine
Margaret McGovern, MD, PhD is a member of the following medical societies: American Academy of Pediatrics and American Society of Human Genetics
Disclosure: Nothing to disclose.

Medical Editor

Edward Kaye, MD, Vice President of Clinical Research, Genzyme Corporation
Edward Kaye, MD is a member of the following medical societies: American Academy of Neurology, American Society of Gene Therapy, American Society of Human Genetics, Child Neurology Society, and Society for Inherited Metabolic Disorders
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine.com, Inc
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

Margaret McGovern, MD, PhD, Vice Chair, Professor, Department of Human Genetics, Mount Sinai School of Medicine
Margaret McGovern, MD, PhD is a member of the following medical societies: American Academy of Pediatrics and American Society of Human Genetics
Disclosure: Nothing to disclose.

CME Editor

Daniel Rauch, MD, FAAP, Director, Pediatric Hospitalist Program, Associate Professor, Department of Pediatrics, New York University School of Medicine
Daniel Rauch, MD, FAAP is a member of the following medical societies: Ambulatory Pediatric Association, American Academy of Pediatrics, and Society of Hospital Medicine
Disclosure: Baxter Honoraria Consulting; Pfizer Honoraria Consulting

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics and Rehabilitation, 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 Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
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