eMedicine Specialties > Dermatology > Pediatric Diseases

Nijmegen Breakage Syndrome: Follow-up

Author: Krystyna H Chrzanowska, MD, PhD, Head of Genetic Counseling Unit, Associate Professor, Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland
Coauthor(s): Camila K Janniger, MD, Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, New Jersey Medical School
Contributor Information and Disclosures

Updated: Oct 23, 2009

Follow-up

Further Inpatient Care

  • Further inpatient care is needed in some Nijmegen breakage syndrome (NBS) patients with severe recurrent infection.
  • Inpatient care is needed in all patients diagnosed with malignancy.

Further Outpatient Care

  • Further outpatient care (eg, IVIG therapy, infection treatment) is determined by the degree of immune deficiency and clinical course.
  • Periodic follow-up is indicated to monitor immune status, physical growth, and intellectual development.
  • Systematic periodic monitoring for malignancy development is mandatory.

Deterrence/Prevention

  • Prenatal diagnosis is possible for families with a 25% risk of having an affected child. Molecular genetic analysis is the method of choice. However, the identification of disease-causing mutations in both alleles of the NBS1 gene is necessary before prenatal testing can be performed.
  • Fetal DNA is obtained either by chorionic villous sampling at 10-12 weeks' gestation or by early amniocentesis at 13-15 weeks' gestation.

Complications

  • Recurrent pneumonia and bronchitis may result in bronchiectasis or respiratory insufficiency.
  • Recurrent otitis media may result in draining ear(s) or mastoiditis.
  • Malignancies occur frequently in patients with Nijmegen breakage syndrome.
  • An adverse reaction to radiation therapy, chemotherapy, or both in patients with unrecognized Nijmegen breakage syndrome may result in toxic death.
  • At least 3 patients who had medulloblastoma and received radiation before being diagnosed with Nijmegen breakage syndrome were fatally injured, and they eventually died from complications of the therapy.9,45,46
  • Alopecia was an adverse effect observed in a Polish patient with acute myeloblastic leukemia given an 18-Gy dose of cranial irradiation for CNS prophylaxis. However, another Polish patient manifested no complications after receiving an identical dose by prophylactic cranial irradiation for high-risk group T-cell acute lymphoblastic leukemia. Both patients were treated for the malignancy before the diagnosis of Nijmegen breakage syndrome was established (Chrzanowska, unpublished data).
  • Physicians should be aware of the possibility that Nijmegen breakage syndrome is underdiagnosed in children with malignant diseases in geographical areas where the disease is less frequent.
  • A high index of suspicion is necessary for patients who (1) develop any type of malignancy and have congenital defects (eg, microcephaly) and (2) develop lymphoid malignancy at a very young age (younger than 3 y).

Prognosis

  • Currently, the long-term prognosis for patients with Nijmegen breakage syndrome appears to be poor.
  • Premature death occurs from either aggressive malignancy or complications of infection.
  • The patient's life span is reduced significantly; however, survival into the third or fourth decade has been recorded.

Patient Education

  • Delayed speech development is observed in many children, and speech therapy is needed to correct articulation problems.
  • Most patients with mental retardation require educational support. They may need to attend special education classes or schools.
  • To find a genetics or prenatal diagnosis clinic, see GeneTests, Laboratory Directory.

Miscellaneous

Medicolegal Pitfalls

  • Nijmegen breakage syndrome is a rare autosomal recessive condition of chromosomal instability with immunodeficiency, radiation sensitivity, and a strong predisposition to lymphoid malignancy. Because Nijmegen breakage syndrome is a cutaneous marker for cancer, failure to diagnose Nijmegen breakage syndrome can potentially result in legal liability.
 
Acknowledgments

The authors and editors of eMedicine gratefully acknowledge the contributions of previous Chief Editor, William D. James, MD, to the development and writing of this article.



More on Nijmegen Breakage Syndrome

Overview: Nijmegen Breakage Syndrome
Differential Diagnoses & Workup: Nijmegen Breakage Syndrome
Treatment & Medication: Nijmegen Breakage Syndrome
Follow-up: Nijmegen Breakage Syndrome
Multimedia: Nijmegen Breakage Syndrome
References
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Further Reading

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Keywords

Nijmegen breakage syndrome, Nijmegen's breakage syndrome, NBS, Berlin breakage syndrome, BBS, Seemanova syndrome, ataxia-telangiectasia, AT-V1, AT-V2, A-T, congenital microcephaly, congenital immunodeficiency, chromosomal instability, microcephaly, microcephaly with normal intelligence, lymphoreticular malignancy, MIM 251260, OMIM 251260, MIM 602667, OMIM 602667

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Contributor Information and Disclosures

Author

Krystyna H Chrzanowska, MD, PhD, Head of Genetic Counseling Unit, Associate Professor, Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland
Disclosure: Nothing to disclose.

Coauthor(s)

Camila K Janniger, MD, Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, New Jersey Medical School
Camila K Janniger, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

Medical Editor

Noah S Scheinfeld, MD, JD, FAAD, Assistant Clinical Professor, Department of Dermatology, Columbia University; Consulting Staff, Department of Dermatology, St Luke's Roosevelt Hospital Center, Beth Israel Medical Center, New York Eye and Ear Infirmary; Private Practice
Noah S Scheinfeld, MD, JD, FAAD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Optigenex Consulting fee Independent contractor

Pharmacy Editor

David F Butler, MD, Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic
David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa
Disclosure: Nothing to disclose.

Managing Editor

Robert A Schwartz, MD, MPH, Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi
Disclosure: Nothing to disclose.

CME Editor

Catherine M Quirk, MD, Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania
Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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