Patient Care
JUNE 2003
Two papers have recently been published that report lethal effects of radio-/chemotherapy in two children with unrecognised Nijmegen Breakage Syndrome: 

Bakhshi S, Cerosaletti KM, Concannon P, Bawle EV, Fontanesi J, Gatti RA, Bhambhani K.
Medulloblastoma with adverse reaction to radiation therapy in nijmegen breakage syndrome.
J Pediatr Hematol Oncol. 2003 Mar;25(3):248-51.

Distel L, Neubauer S, Varon R, Holter W, Grabenbauer G.
Fatal toxicity following radio- and chemotherapy of medulloblastoma in a child with unrecognized Nijmegen Breakage Syndrome.
Med Pediatr Oncol. 2003;41:44-8.

Distel et al. "strongly suggest that all patients with anthropometric parameters below the 3rd centile or other signs suggestive for a repair disorder should be tested for hypersensitivity against DNA-damaging agents prior to cytotoxic treatment or radiation".

This also reminds us that major efforts have to be done to spread knowledge of NBS.
To this aim a brochure which describes criteria for NBS diagnosis, intended for paediatricians and general practitioners, has been made available, as a downloadable *.pdf file, in the Diagnosis (English version) and Diagnosi (versione italiana) pages.