Nijmegen, syndrome
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(AT V1, ataxia-telangiectasia Variant 1, NBS, Berlin breakage syndrome, Nijmegen breakage syndrome, Seemanova type 2 syndrome)
Rare but prevalence is greater in groups from Central and Eastern Europe: Czech Republic, Poland, Russia, Ukraine. Autosomal recessive transmission of a mutation of the NBN gene on 8q21-q24, which codes for nibrine, a protein which, forming a trimeric complex protein with MRE11 and RAD50 called MNR, is involved in the repair of double-stranded DNA injuries.
Clinical presentation:
- microcephaly: present from birth (< 2 SD of the average), which worsens with age and is accompanied by mental retardation and a delay in acquisition of speech
- facial dysmorphism: receding chin, sloping forehead, emaciated face, up- an backslanting palpebral fissures; the nose is long and hooked, or short with anteverted nostrils
- moderate stunting with hypergonadotrophic hypogonadism in girls
- cellular and humoral immunodeficiency: frequent infections, especially of the respiratory tract
- increased risk of tumors and hematologic diseases: 40 % of patients develop a malignant disease before the age of 20 years: the most commons are of lymphoid origin: non-Hodgkin's lymphoma, T-cell lymphoblastic lymphoma, more rarely Burkitt Lymphoma; myelosuppression, medulloblastoma, rhabdomyosarcoma
Sometimes:
- cleft palate, choanal atresia
- clinodactyly of the 5th fingers, partial syndactyly of the fingers; sometimes polydactyly
- urogenital anomalies: renal hypoplasia, dystrophy or aplasia, horseshoe kidney, hypospadias
- Cafe au lait spots and/or patches of vitiligo.
- thin and sparse hair in children and early graying (around the age of 20-30 years)
- hypoplasia or aplasia of the Corpus Callosum
Anesthetic implications:
check blood count and renal function, pulmonary auscultation (bronchiectasis ?), risk of difficult intubation, high sensitivity to the carcinogenic effects of X-rays (radiation protection)
References:
- Chrzanowska KH, Gregorek H, Dembowska-baginska B, Kalina MA, Digweed M.
Nijmegen breakage syndrome (NBS).
Orphanet J Rare Diseases 2012 ; 7 :13.
Updated: November 2018