Prenatal Microcephaly and Hydrocephalus and Normal Heart Anatomy, Postnatal Diagnosis of Nijmegen Syndrome

Prenatal Microcephaly and Hydrocephalus and Normal Heart Anatomy, Postnatal Diagnosis of Nijmegen Syndrome - Case Report

Published:2018-12-31 Issue:1 Volume:8 Page:53-58
ISSN:2353-8201
Container-title:Prenatal Cardiology
language:en
Short-container-title:

Author:

Wójtowicz-Marzec Monika¹,Respondek-Liberska Maria²³

Affiliation:

1. Student of the Medical Univerisity of Lodz, Lodz , Poland

2. Department of Prenatal Cardiology, Polish Mother’s Memorial Hospital ResearchInstitute, Lodz , Poland

3. Medical University of Lodz, Department of Diagnoses and Prevention Fetal Malformations, Lodz , Poland

Abstract

Abstract Nijmengen breakage syndrome is a rare autosomal condition mainly characterized by microcephaly. Patients are predisposed to malignancies due to combined immunodeficiency. The presented patient had prenatally diagnosed microcephaly with atypical ventriculomegaly of occipital horns. Fetal echocardiography showed a normal fetal heart anatomy. Diagnosis of Nijmengen syndrome was confirmed postnatally. The differential diagnosis of fetal microcephaly should take into account intrauterine infections, perinatal brain injury, congenital malformations or biological variants.

Publisher

Walter de Gruyter GmbH

Subject

General Medicine

Reference20 articles.

1. 1. Chrzanowska K., Varon R., Demuth L., Nijmengen breakage syndrome (NBS). Orphanet Journal of Rare Disaease 2012,7:13

2. 2. Chrzanowska K., Stumm M., Bekiesińska- Figatowska M., Varon R., Białecka M., Gregorek H., Michałkiewicz J., Krajewska-Walasek M., Joźwiak S., Reis A. Atypical clinical Picture of the Nijmengen breakage syndrome associated with development al abnormalities of the brain. J Med Genet 2001;38

3. 3. Jaspers NG, van der Kraan M, Linssen PC, Macek M, Seemanova E, Kleijer WJ. Firsttrimester prenatal diagnosis of the Nijmegen breakage syndrome and ataxia telangiectasia using an assay of radioresistant DNA synthesis. Prenat Diagn. 1990 Oct;10(10):667-74.

4. 4. Kleijer WJ, van der Kraan M, Los FJ, Jaspers NG. Prenatal diagnosis of ataxia-telangiectasia and Nijmegen Breakage syndrome by the assay of radioresistant DNA synthesis Int J Radiat Biol. 1994 Dec;66(6 Suppl):S167-74.

5. 5. Di Masi A, Antoccia A, Spadoni E, Varon- Mateeva R, Maraschio P, Tanzarella C. Screening of Nijmegen breakage syndrome 1 mutations in four unrelated families by polymerase chain reaction using sequence-specific primers. Genet Test. 2006 Spring;10(1):24-30.