[ prune belly syndrome - about 2 cases]

The Prune Belly syndrome, or aplasia of the abdominal wall muscles is a rare syndrome. It occurs in 1/40.000 children and almost exclusively in boys. It is characterized by the association of an absence of the abdominal wall musculature, a cryptorchidism and severe anomalies of the urinary tract. The treatment of this syndrome is difficult. We bring back two typical observations. It is about two newborns, the first was admitted at 8 hours of life and the second at 11 days of life for an abdominal distension with a total haematuria without anuria. The clinical examination found a spread and expansive stomach, a crumbled cutaneous coating and two voussures in the flanks, a bilateral cryptorchidism and an overflowing miction. The first patient had a minimal renal insufficiency and a low prothrombine time. In the second patient the biologic balance was normal and the UBCE was negative. The abdominal ultrasonography showed a bilateral hydronephrosis. The IVU showed an important hydronephrosis with the presence in the first case of a bilateral anomaly of the uretero-pelvic junction. The UCG in the second patient revealed a bilateral vesicoureteral reflux. The Prune Belly syndrome was evoked. We decided not to operate the patients and to supervise the renal function and to maintain the urines sterile. The first patient received K1 vitamin. The evolution was marked by the disappearance of the haematuria. The first patient died at 40 days of life, the second didn't return to consultation. The interest of these observations is to recall the clinical, radiological and evolutionary aspects of this syndrome and to raise the importance of the antenatal diagnosis

Ritscher-Schinzel syndrome: a case report

The 3C syndrome [cranio-cerebello-cardiac], or Ritscher-Schinzel syndrome, is rare. Only about thirty cases have been described in the literature. Transmitted on autosomic recessive mode, it associates a characteristic cranio-facial dimorphism, a cerebella vermis hypoplasia, cardiac malformations, a severe psychomotor retardation, and others anomalies such as ocular and renal. Authors report a new typical case characterized by its clinical symptoms. A four year-old child, from first degree consanguineous parents, is hospitalized for cyanosis with respiratory distress. The clinical examination finds a facial dimorph, a total hypotonia, a poor growth, a psychomotor retardation, a bilateral cryptorchidy and a camptodactyly of the 5th finger. The echocardiography shows a Fallot tetralogy in its complete form and the cerebral scanner shows Dandy-Walker lesions and hydrocephaly. The treatment was symptomatic. The Ritscher-Schinzel syndrome is a rare and serious disease. The postnatal treatment is difficult. The prognosis is often reserved. The gene identification would allow antenatal diagnosis, eventual pregnancy interruption and genetic advice