[Report of a case of type C Niemann-Pick syndrome with atypical course]. / Descrizione di un caso di sindrome di Niemann-Pick di tipo C ad andamento atipico.

We report a case of one boy with Niemann-Pick disease (type C). The manifestations are delayed but the clinical evolution is swift.

[Hypertensive encephalopathy in post-infective glomerulonephritis]. / Encefalopatia ipertensiva in corso di glomerulonefrite post-infettiva.

We described the case of a thirteen years old boy who came to our observation because of ematuria, orbital oedema, headache and hypertension (with renal symptoms). In few hours this syndrome evolved in a serious hypertensive encephalopathia with convulsions and emiparesis.

[Abnormalities in newborns of mothers with antiphospholipid antibody syndrome. Report of a case]. / Malformazioni in neonati di madre con sindrome da anticorpi antifosfolipidi. Segnalazione di un caso.

We described the case of a newborn, whose mother was affected by anti-phospholipids antibodies syndrome and had previously had several abortions. The newborn presented emispondilitis. (We suppose it is important to notice that cases like this have never been signalled in literature so far).

[Report of case of Prader-Willi syndrome]. / Descrizione di un caso di sindrome di Prader-Willi.

We reported a case of Prader-Willi Syndrome. The simple chromosomic mapping is negative. The obesity and polifagye is not present (2 years old). The ipotony is improving, this case belongs to a possible light case.

[Description of a case of spondylo-thoracic dysplasia or Jarcho-Levin syndrome]. / Descrizione di un caso di displasia spondilo-toracica o sindrome di Jarcho-Levin.

A case of Jarcho-Levin Syndrome is described which is characterized by severe costo-vertebrate anomalies. In our case signal severe cardiopathy.

[A case report of drepanocytic anemia with "belt syndrome"]. / Descrizione di un caso di anemia drepanocitica con "Sindrome della cintura".

Following article describes the case of a child with painful abdominal symptomatology showing characteristics of an acute abdomen. Following the laboratory tests abdominal crises have been classified as vessel occlusion crises with sickle cell anemia.

Effect of different treatment regimes on linear growth and final height in beta-thalassaemia major.

OBJECTIVE: The clinical picture of thalassaemia major has changed progressively over the years. Our study is a retrospective analysis of data on growth in a group of patients who have completed puberty spontaneously and have attained their adult height. Our objective was to evaluate the effect of different transfusion regimes and desferrioxamine administration on the growth pattern in beta-thalassaemia major. DESIGN AND PATIENTS: We studied 64 patients (28 males and 36 females). The patients were divided into three groups (A, B and C) according to the different transfusion regimes and the schedules of chelating therapy. Group A consisted of 16 patients who were transfused regularly at low haemoglobin levels (on average 8.5 g/dl) from an early age and started subcutaneous chelation therapy during adolescence. Group B consisted of 19 patients who were transfused regularly at high haemoglobin levels (on average 10 g/dl) from an early age and started subcutaneous therapy during childhood. Group C consisted of 29 patients who were transfused regularly at high haemoglobin levels (on average 10.5 g/dl) from an early age and started subcutaneous chelation therapy very early, at a mean age of 2 years. Standard auxological measurements were made at 3-monthly intervals throughout childhood and puberty until adult height was achieved. For group C patients the data on linear growth are provided only until the age of 12 years. RESULTS: Our study indicates that group A male and female patients did not grow significantly better than those in group B. Group C male and female patients, surprisingly, grew no faster than those who started chelation therapy late in childhood (group A). The most striking feature in the majority of both group A and B patients was reduced spurt in height at puberty. In addition, in both groups, a reduced sitting height due to spinal growth abnormality was found. An inverse correlation between sitting height and serum ferritin levels was observed in group A patients (r = -0.55, P < 0.05), whereas there was a direct correlation in group B patients (r = 0.42, P < 0.05). CONCLUSIONS: These data suggest that an ideal therapeutic regime has yet to be found which avoids the toxic effect of iron overload and on the other hand avoids interference with growth, secondary to desferrioxamine. Therefore we recommend that the growth of thalassaemia patients be monitored routinely at every follow-up visit and documented on growth velocity charts in order to detect early changes in their growth pattern and to establish an appropriate protocol for investigation and treatment.

Pubertal development in thalassaemic patients after allogenic bone marrow transplantation.

To obtain further insight into gonadal function, a series of 50 prepubertal patients with beta-thalassaemia major (24 boys and 26 girls) aged from 12.6 to 18 years (mean 15 years) who had received a bone marrow transplantation (BMT) during childhood or the peripubertal period, at the age of 3.6-14.5 years (mean 10.8 years), were periodically re-evaluated at intervals of 6-12 months. The last evaluation was done 1-9 years (mean 4.2 years) after BMT. At each examination we measured height, pubertal stage, plasma gonadotrophins (LH and FSH) before and after the GnRH stimulation test (i.v.), sex steroids (total and free testosterone in males, and 17 beta-oestradiol in females), serum ferritin and bone age. Fourty percent of patients entered or passed through puberty normally despite clinical and hormonal evidence of gonadal dysfunction in most of them. A correlation was not found between the pubertal stage and age at BMT, and no statistical difference between patients who did not enter into puberty and patients with spontaneous pubertal development was found in serum ferritin levels. Our data confirm that gonads in male and female thalassaemic patients are exposed to the cytotoxic effects of the preparative transplant regime with alkylating agents. In some patients absence of pubertal development was due to gonadotrophin insufficiency, probably secondary to previous iron overload. These findings emphasize the need for a vigilant long-term follow up study of thalassaemic patients who have had BMT.

[Arterial hypertension and syncope in an adult patient with coarctation of the aorta]. / Ipertensione arteriosa e sincope in adulto portatore di stenosi istmica dell'aorta.

An uncommon case of aortal coartactation in an adult patient treated, since five years, for hypertension and faintness is described. The surgical treatment led to complete resolution of her symptomatology without drug therapy.

[Erythrocyte carbonic anhydrase in subjects on periodic hemodialysis]. / Anidrasi carbonica eritrocitaria in soggetti sottoposti ad emodialisi periodica.

Red cell carbonic anhydrase isoenzymes I and II have been measured by means of cellulose acetate membrane electrophoresis in patients with chronic renal failure and dependent on periodic hemodialysis; these patients showed a chronic anemia due to many factors. Carbonic anhydrase isoenzymes were higher in uremic and anemic patients than in the controls. Since hemoglobin can act as a protons acceptor from the active site of carbonic anhydrase during the hydratation of CO2 (and vice-versa), the increase of carbonic anhydrase can facilitate, via the Bohr effect, the transfer of the oxygen to the peripheral tissues. Therefore an increase of red cell carbonic anhydrase can constitute a compensating mechanism of anemic hypoxia in uremic patients.