Objectives To emphasize the diagnosis particularities in 2 sibling cases diagnosed with neurofibromatosis von Recklinghausen.
Methods The authors present a six months old male infant admitted in the context of watery stools and fever. The family history wasn’t suggestive: the parents and a 4 years old sister were healthy. The clinical exam revealed 9 cafe-au-lait spots (>5 mm in the highest diameter), macrocephaly, skin pallor and watery stools. The clinical diagnosis was enterocolitis and anemia in an infant with multiple cafe-au-lait spots.
Results The laboratory and imagistic investigations revealed anemia and a low degree hydrocephalus. In the context of cafe-au-lait spots, the medical staff has analized the differential with LEOPARD, Watson, McCune-Albright and type 1 neurofibromatosis syndromes. The staff had to reconsider the family history and the infant’s mother was evaluated: she presented multiple cafe-au-lait spots and neurofibromas. For the first time, the medical staff established the type 1 neurofibromatosis diagnosis for mother and, consequently, for the infant too. The infant’s sister was examined and neurofibromatosis diagnosis was also confirmed for her (2 diagnosis criteria).
Conclusions The diagnosis was established earlier (most clinical signs appear during the second decade of life); the infant presented with minimal hydrocephalus (a rare condition); we were able to reveal the neurofibromatosis diagnosis for both siblings because of positive diagnosis first established for their mother (as a peculiarity, the mother represents the “index case” or “probant”).