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

Krabbe Disease: Follow-up

Author: David H Tegay, DO, FACMG, Associate Professor of Medicine and Medical Genetics, New York College of Osteopathic Medicine at the New York Institute of Technology; Assistant Professor of Pediatrics, Stony Brook University Medical Center
Contributor Information and Disclosures

Updated: Dec 4, 2008

Follow-up

Further Inpatient Care

  • Hematopoietic stem cell transplantation in patients with Krabbe disease should be considered only at an experienced center and follow-up care coordinated with the transplant team.

Deterrence/Prevention

  • Provide genetic counseling for at-risk couples to explain reproductive options. Prenatal diagnosis, if feasible and desired, can be beneficial in future pregnancies by providing reassurance in the case of an unaffected fetus or by allowing an informed exploration of options, such as termination of pregnancy or, potentially, early stem cell therapy, in the case of an affected fetus.
  • If molecular testing in a patient with Krabbe disease identifies the causative mutation, family members at risk for carrying the mutation may wish to be tested.

Complications

  • Irreversible neurologic deterioration and death can occur.
  • Patients are at risk for aspiration pneumonia and recurrent respiratory infections caused by neurologic compromise.

Prognosis

  • Type 1: In patients with type 1 infantile Krabbe disease, the average lifespan is 13 months.
  • Type 2: Most patients die within 2 years of disease onset.
  • Types 3 and 4: With both juvenile-onset and adult-onset Krabbe disease, progression of disease and lifespan reduction vary.
  • Hematopoietic stem cell transplantation results indicate markedly improved short-term survival for individuals who are treated while asymptomatic during the early neonatal period.8,31

Patient Education

  • Provide information to the families of patients with Krabbe disease regarding disease manifestations and potential complications.
  • Educate parents regarding the genetic basis of the disease and include information on recurrence risks, carrier identification, and the possibility of prenatal diagnosis during future pregnancies.
  • Educate parents about the risks, benefits and limitations of hematopoietic stem cell transplantation.

Miscellaneous

Medicolegal Pitfalls

  • Failure to counsel the families of patients concerning the 25% risk of Krabbe disease occurring in each child of parental carriers
  • Failure to counsel parents concerning prenatal diagnosis options
  • Failure to provide rapid diagnosis, discussion, and consideration of referral to a center with expertise in hematopoietic stem cell transplantation when appropriate
 


More on Krabbe Disease

Overview: Krabbe Disease
Differential Diagnoses & Workup: Krabbe Disease
Treatment & Medication: Krabbe Disease
Follow-up: Krabbe Disease
References
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References

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Further Reading

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Keywords

Krabbe disease, galactocerebrosidase deficiency, galactosylceramide beta-galactosidase deficiency, GALC deficiency, globoid cell leukodystrophy, Krabbe's disease, infantile irritability, hypertonia, hyperesthesia, psychomotor arrest, galactosylceramide lipidosis, diffuse infantile familial sclerosis, myelin sheath disorders, sphingolipidosis, hematopoietic stem cell transplantation, respiratory failure, gastroesophageal reflux, GERD

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Contributor Information and Disclosures

Author

David H Tegay, DO, FACMG, Associate Professor of Medicine and Medical Genetics, New York College of Osteopathic Medicine at the New York Institute of Technology; Assistant Professor of Pediatrics, Stony Brook University Medical Center
David H Tegay, DO, FACMG is a member of the following medical societies: American College of Medical Genetics, American College of Osteopathic Internists, American College of Physicians, American Medical Association, American Osteopathic Association, American Society of Human Genetics, and Federation of American Societies for Experimental Biology
Disclosure: Nothing to disclose.

Medical Editor

Erawati V Bawle, MD, FAAP, FACMG, Division of Genetic and Metabolic Disorders, Children's Hospital of Michigan; Professor (Clinician-Educator), Department of Pediatrics, Wayne State University School of Medicine
Erawati V Bawle, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, American Medical Association, and American Society of Human Genetics
Disclosure: Nothing to disclose.

Pharmacy Editor

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

Managing Editor

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.

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

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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