[Prader-Willi syndrome]. / La sindrome di Prader-Willi.

Prader-Willi syndrome (PWS) is the most frequent cause of secondary obesity, characterized by neonatal hypotonia, dysmorphic facies, acromicria, hypogonadism, stunted growth, obesity, behavioural disturbances and cognitive impairment. Clinical diagnosis is confirmed by alteration of imprinted genes on the proximal long arm of chromosome 15 (15q11-13) for deletion, translocation, uniparental disomy for maternal chromosome 15 or imprinting center defect. Methylation test is the most reliable test for diagnosis. This issue explains diagnostic tests, clinical, metabolic, endocrinological features, and the most frequent complications observed in this syndrome. Precocious diagnosis and multidisciplinary approach allow in these patients to prevent the severe obesity and linked complications.

Hormonal and psychologic assessment in LLA patients after bone marrow transplant.

Four adolescent males were submitted to hormonal and psychological evaluation 3-8 years after bone marrow transplant. All presented testicular failure, two were submitted to orchiectomy. Androgen replacement therapy was begun at 13 yr 7 mo-17 yr. A psychological evaluation has been performed. Orchiectomy and insertion of artificial testicles do not seem to have affected patients' psychological situation. Individual differences have been found due to many causes.

[Induced hypoglycemia. A unusual case of child battering]. / Ipoglicemia indotta. Un insolito caso di maltrattamento infantile.

We describe a case of Munchausen's syndrome by proxy in a 12 years old child. The administration of glibenclamide by the mother led to severe hypoglycemias in the child, who underwent various instrumental researches and a subtotal pancreatectomy before the final diagnosis could be reached. The diagnosis also was possible with the substantial help of an accurate psychological survey. The case solution, with disappearance of hypoglycemias, was made possible by the removal of the maternal presence settled by the juvenile court.

Acute gangrene of the scrotum and penis in four hematologic patients. The usefulness of hyperbaric oxygen therapy in one case.

We describe four cases of Fournier's gangrene complicating the postchemotherapy aplastic phase (polymorphonuclear cells [PMN] less than 500/microliter) in three patients with acute leukemia and one patient with non-Hodgkin's lymphoma. Blood and local cultures from two patients contained Pseudomonas aeruginosa, and local cultures from another patient grew both P. aeruginosa and Proteus rettgeri. Early recognition and aggressive antibiotic and surgical treatment with granulocyte recovery were fundamental factors in resolution of the gangrene in three of the four patients. Hyperbaric oxygen therapy, never reported in hematologic patients, was also very useful in one patient in whom the clinical course was particularly acute.

Value of CT scanning in the diagnosis of CNS mycotic involvement: report of 3 cases.

Fungal infections of the CNS are becoming an increasingly serious problem in immunosuppressed patients. We describe three patients with malignant blood disease who in the course of systemic fungal infection presented cerebral involvement. The nature, site and extent of the cerebral involvement were defined by computed tomography (CT). Further, in one patient it was possible to follow the course of the lesion and assess the effectiveness of antimycotic therapy by CT because of its noninvasiveness and repeatability.

[Preparing children and their parents for surgical interventions in a reconstructive plastic surgery division]. / La preparazione all'intervento chirurgico dei bambini degenti e dei loro genitori in una divisione di chirurgia plastica ricostruttiva.

Fear of the unknown and the misunderstood increases the anxiety of patients of all ages who are going to have operations; in children fear is usually heightened by their fantasies. It is useful therefore to offer them accurate information in a way they can understand. Parents, too, can react better to their anxieties if they clearly know about the procedures to be done. In order to prepare the child patient as well as his parents for surgery, specific programs have been developed in a plastic surgical division.

Unusual bone marrow hyperplasia in a case of thalassemia intermedia.

A case of beta thalassemia intermedia is described. Beside the typical hematologic picture and extramedullary erythropoiesis in the liver always present in such a clinical form, atypical masses due to foci of erythropoiesis were found at paravertebral, parasternal and subcostal sites. The size of these masses caused problems in differential diagnosis; they have been solved by computerized axial tomography.

[Late reattribution of sex: a clinical example]. / Riattribuzione tardiva di sesso: un caso clinico esemplificativo.

A female patient affected by congenital adrenal hyperplasia, has been brought up as a male till five and half year old. After exact diagnosis has been made, a complete psychological evaluation has suggested the possibility of a change in the rearing sex. We briefly summarize the psychological, medical, legal aspects of this late sexual reattribution. After a five-years follow up, results may be considered satisfactory.