[Report of a case of type C Niemann-Pick syndrome with atypical course]. / Descrizione di un caso di sindrome di Niemann-Pick di tipo C ad andamento atipico.

We report a case of one boy with Niemann-Pick disease (type C). The manifestations are delayed but the clinical evolution is swift.

[Report of case of Prader-Willi syndrome]. / Descrizione di un caso di sindrome di Prader-Willi.

We reported a case of Prader-Willi Syndrome. The simple chromosomic mapping is negative. The obesity and polifagye is not present (2 years old). The ipotony is improving, this case belongs to a possible light case.

[Description of a case of spondylo-thoracic dysplasia or Jarcho-Levin syndrome]. / Descrizione di un caso di displasia spondilo-toracica o sindrome di Jarcho-Levin.

A case of Jarcho-Levin Syndrome is described which is characterized by severe costo-vertebrate anomalies. In our case signal severe cardiopathy.

[A case report of drepanocytic anemia with "belt syndrome"]. / Descrizione di un caso di anemia drepanocitica con "Sindrome della cintura".

Following article describes the case of a child with painful abdominal symptomatology showing characteristics of an acute abdomen. Following the laboratory tests abdominal crises have been classified as vessel occlusion crises with sickle cell anemia.