[Prader-Willi syndrome: a 5 cases report]

The Prader-Willi syndrome is a rare genetic syndrome. Its diagnosis is currently well codified, based on clinic and paraclinic criteria. Its management has to be precocious and multidisciplinary. The authors relate 5 cases, and they insist on the difficulty of the diagnosis and of the management of this syndrome. Method: 5 cases of Prader-Willi syndrome were diagnosed in the Unit of Endocrinology and Metabolic Diseases of Rabat Children Hospital. These cases were collected according to criteria's of diagnosis of the American Society of Human Genetics and the French association "AFPW". The mean age of diagnosis was 6 year-old. The circumstances of diagnosis were a behavior trouble in 1 case, a short stature in 1 case, a neonatal hypotonia 1 case and a suspicion of Cushing syndrome in 2 cases. In 4 patients the diagnosis was made according to the criteria of the AFPW, and by molecular biology in 1 case. 4 children had a facial dysmorphism and a psycho-motor retardation. The treatment was based on dietary management, and the treatment of other hormonal deficiencies. Conclusions: only an early diagnosis and a multidisciplinary management can improve the prognosis of this syndrome

Kartagener syndrome: a case report

The Kartagener's syndrome is a rare autosomal recessive disease. The diagnosis is based on the associated of nasal polypose, dilatation of branches and situs inversus. The authors report a case of a 45 day-old girl, admitted for broncho-pneumonia with deviation of heart noises to the right. The cardiac and abdominal scan finds a complete situs inversus. Our patient was treated by antibiotherapy and daily respiratory physiotherapy. The outcome was good. The aim of this case report is to remind a diagnosis which is very uncommon in this context, and to study epidemiology, clinical, therapeutic and evolutive characteristics of this disease

[Wolman disease: a case report]

The Wolman disease is a rare autosomal recessive disorder associated with reduced activity of lysosomal acid lipase [LAL] witch leads to the tissue accumulation of cholestryl esters and triglycerides. The authors report a case of 3 month-old infant who was admitted for abdominal distension with hepato-splenomegaly, diarrhea, vomiting, anemia and inanition. The diagnosis was made on the radiological evidence of bilateral adrenal calcifications. The patient died during the first 3 months of life. It is recommended that plain abdominal X-Ray must be obtained to check for the typical pattern of adrenal calcification in any young infant with evidence of a storage disease without dysmorphic features