A case of GH deficiency and beta-thalassemia.

A 23-year-old male patient, who suffers from beta-thalassemia major, came to us for an endocrine-metabolic evaluation. Medical history showed a diagnosis of heart disease with heart failure since the age of 16, type 1 diabetes mellitus diagnosed at the age of 18, treated with an intensive insulin therapy with a poor glycometabolic control. Patient performed regular blood transfusions and iron chelation with deferasirox. An echocardiogram revealed an enlarged left ventricle. Patient had undergone a comprehensive study of buoyancy both basal and hormone-stimulated and it was therefore carried out a diagnosis of GH deficiency and hypogonadotropic hypogonadism. A recombinant GH replacement therapy was then prescribed. After six months of therapy, the patient reported a net improvement of asthenic symptoms. Physical examination showed a reduction in abdominal adiposity in waist and an increase of 5 cm in stature. Laboratory tests showed an amelioration of glycometabolic control, such as to justify a reduction in daily insulin dose. The stature observed was thought appropriate to begin the administration of testosterone. Moreover, the cardiological framework showed a reduction of left ventricular dilatation, good ventricular motility, global minimum persistent tricuspid but not mitral regurgitation and no alteration on ECG.

[Spondylitis in infancy. A case report]. / Spondilodiscite in età pediatrica. Presentazione di un caso.

The authors report on a case of a spondylodiskitis in three year old child. Diskitis is an inflammatory process of the intervertebral disk space, not often described in pediatric age. The etiology is infective and generally presents with lumbar spine localization. Clinically it is characterized by lumbar pain at times radiating to a lower extremity. Symptoms are aspecific and radiological signs do not appear for several weeks after the onset of symptoms. Interest in this pathology derives from the fact that it may be more common than previously recognized. This case offered us the opportunity to review principal symptoms of diskitis and to describe the main diagnostic technics used.

Down syndrome with unusual chromosome translocation: case report and review.

We report a case of Down syndrome with unusual chromosome translocation. The proband is a 1 year old male with 47, XY, der (5) t(5;21) (q11:q21), + der (5) t(5;21). The mother's karyotype was 46 XX, der (5) t(5,21) (q11:q21). The chromosome imbalance resulted from 3:1 meiotic segregation.

[Neurological complications of Mycoplasma pneumoniae infection. Description of a case of meningitis with clear cerebrospinal fluid]. / Complicanze neurologiche dell'infezione da mycoplasma pneumoniae. Descrizione di un caso di meningite a liquor limpido.

Mycoplasma pneumoniae (M.p.) is generally responsible of upper and lower respiratory tract infections in children in school age; in about 2% of cases can be also considered the cause of a NS infection: meningitis, encephalitis, cerebellitis, transverse myelitis and ascending polyradiculitis. The authors describe a case of meningitis following an acute otitis media in a 6 years old child. This patient presented also a fourfold or greater decrease in titer of complement fixing antibodies to M.p. The authors suggest a systematic research of M.p. in patients with clear CSF meningitis.