[Adrenal neoplasms in childhood. Description of a clinical case and review of the literature]. / Neoplasia surrenalica in età pediatrica. Descrizione di un caso clinico e review della letteratura.

Hyperadrenocorticism caused by tumors of adrenal cortex is uncommon in children; it occurs more frequently in girls and on the left side. The clinical manifestations depend upon age and sex of patients; virilization is the predominant sign in about two thirds of the cases, and Cushing's syndrome in the others. Diagnosis is made by hormonal and instrumental evaluations. Therapy is surgical eradication. Histology has not proved to be useful because pleiomorphism and capsular invasion have been found in clinically benign tumors. High mortality rate in older literature may have been due to post-operative complications and inadequate steroid replacement; in more recent issues good prognosis is referred in pediatric patients. Early diagnosis and therapy are important to prevent adverse effect on growth and development. After an up-to-date review of the literature, a case of adrenocortical tumor is reported. We present a 3 years old boy with pseudoprecocious puberty (accelerated growth and bone age, sexual hair, facial acne, penile enlargement, hoarse voice) and a diagnosis of testosterone-producing adrenal tumor was confirmed by endocrine and radiological investigations. Removal of functioning adrenal tumor was followed by rapid regression of most of the clinical signs of the disease; plasma and urinary steroids returned to normal values. Twelve months after eradication of the tumor the patient is in good health; long-term-follow-up is necessary to exclude any relapse.

[Facio-auriculo-vertebral syndrome: description of a case]. / Sindrome facio-auricolo-vertebrale: descrizione di un caso.

The authors report the case of a fourteen months old girl who presented with emisomal, uropoietic and vertebral anomalies associated with neurologic handicap. These features can be considered characteristic of facio-auriculo-vertebral spectrum. This syndrome was not frequently described in Italian pediatric literature.

Abnormal OKT4/OKT8 ratio and deranged capping in ataxia-telangiectasia.

Two sisters with ataxia-telangiectasia (A-T) and their parents were investigated for some parameters related to immunological functions. We found a decrease of total mature T lymphocytes, a decrease of OKT4+ helper-inducer T subset, and normal values of OKT8+ suppressor-cytotoxic T subset; a normal decrease of E rosette formation after incubation in vitro with theophylline, with a lowered E rosette capacity in one patient. The responses to phytohemagglutinin (PHA)and concanavalin A (ConA) were lowered. In addition we observed a reduction of basal capping of B lymphocytes in one patient and in her parents: this phenomenon could be related to cytoskeletal disorders, possibly involved in the pathogenesis of the disease.