Two patients with tumours presenting as inguino-scrotal masses.

Inguinal masses in children may indicate different conditions and pathologies, ranging from congenital anomalies to neoplasms. Although inguinal hernias represent the majority 'masses' in the inguinal canal, there are other rare lesions that may occur. For this reason, irreducible masses shall always receive an appropriate preoperative diagnosis. In this report, we describe two interesting cases of inguinal masses in children first diagnosed as irreducible inguinal hernia. Appropriate investigations before surgery and local surgical excision are therefore recommended.

Successful pregnancy after bone marrow transplantation for thalassaemia.

Bone marrow transplantation from an HLA-identical sibling can cure thalassaemia. The risk of chemotherapy-induced sterility, however, represents a deterrent for many patients already at risk of gonadal insufficiency and reduced fertility because of the effects of transfusional iron overload. We report here the first patient transplanted for thalassaemia, after ablative therapy with busulfan and cyclophosphamide, who, despite late pubertal maturation, became pregnant and delivered a full-term, normal infant.

Acute measles encephalitis of the delayed type in an immunosuppressed child.

The authors described a case of an immunosuppressed child with acute measles encephalitis of the delayed type (AMED). The authors also discussed the relationship between the AMED, epilepsia partialis continua and the neuroradiological picture, in which bilateral putaminal lucency was evident.

[Diagnostic problems in a 7-month-old boy with tubercular lobitis]. / Problemi diagnostici in un bambino di 7 mesi con lobite tubercolare.

A 7-month child with pulmonary tuberculosis infection involving the whole right upper lobe is described. He was referred to us after diagnosis of recurrent asthmatic bronchitis. In spite of the severity of bronchopulmonary involvement, the outcome was good after 5 months of antitubercular chemotherapy.

Evaluation of platelet turnover by flow cytometry.

The number of circulating newly produced platelets depends on the thrombopoietic capacity of bone marrow as well as platelet removal from the bloodstream. Flow cytometric analysis with thiazole orange (TO), a fluorescent dye that crosses platelet membranes and binds intracellular RNA, has been used to measure circulating reticulated platelets (RPs) with high RNA content as an index of platelet turnover. We first assessed the specificity of TO flow cytometry and then applied this method in the diagnosis of thrombocytopenia caused by impaired platelet production or increased destruction. We also explored the utility of TO flow cytometry to predict thrombocytopoiesis after chemotherapy-induced bone marrow aplasia. Venous blood, anticoagulated with K(2)EDTA, was incubated with 0.6 microg/ml TO plus an anti-GPIIIa monoclonal antibody. The mean percentage of RPs in control subjects (n = 23) was 6.13 +/- 3.09%. RPs were 10.41 +/- 9.02% in patients (n = 10) with hematological malignancies during aplasia induced by chemotherapy and a significant increase in RPs (35.45 +/- 6.11%) was seen in the recovery phase. In 10 patients with idiopathic thrombocytopenic purpura, the percentage of TO positive platelets was 67.81 +/- 18.79 (P < 0.001 vs. controls). In patients with thrombocytopenia associated with hepatic cirrhosis (n = 21; 21.04 +/- 16.21%, P < 0.001 vs. controls) or systemic lupus erythematosus (n = 6, 29.08 +/- 15.57%; P < 0.001 vs. controls) increases in TO-stained platelets were also observed. Measurement of TO positive platelets may be a reliable tool for the laboratory identification of platelet disorders, with a higher sensitivity than measurement of platelet volume. Measurement of RPs may also prove useful to recognize the underlying pathogenetic mechanisms in thrombocytopenia.

Association of osteopetrosis and vitamin D-resistant rickets.

The following report concerns a case of malignant osteopetrosis associated with hypocalcemic rickets unresponsive to vitamin D. Parathyroid hormone (PTH) and Calcitonin (CT) secretions were studied in basal conditions and under calcium gluconate infusion, before and after high doses of vitamin D. Basal values (PTH: 690 pg Eq/ml; CT: 560 pg/ml) were found to be much higher than in five control subjects of the same age group, even after vitamin D therapy (PTH: 990 pg Eq/ml; CT:450 pg/ml). Like rickets, PTH and CT secretions do not seem, therefore, to be notably influenced by vitamin D therapy.

Thiamine-responsive anemia in DIDMOAD syndrome.

Two children with the DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, deafness) developed a megaloblastic and sideroblastic anemia, neutropenia, and borderline thrombocytopenia. Plasma thiamine concentration was low in one patient and normal in the other; in both children, thiamine pyrophosphate in erythrocytes and thiamine pyrophosphokinase activity were lower than the lowest values observed in control subjects. A month after institution of treatment with thiamine, the hematologic findings had returned to normal and the insulin requirements had decreased. Withdrawal of thiamine repeatedly induced relapse of the anemia and an increase in insulin requirements. We propose that an inherited abnormality of thiamine metabolism is responsible for the multisystem degenerative disorder known as DIDMOAD syndrome.

[Children born of leukemic parents. Apropos of 23 children]. / Les enfants nés de parents leucémiques. A propos de 23 enfants.

We have studied the children born of leukemic parents who treatment had stopped. In total, 8 women (3 acute myeloblastic leukemias and 5 acute lymphoblastic leukemias) who gave birth to 11 children, and 6 men (all with acute lymphoblastic leukemias) who fathered 12 children were studied. Of these 23 children, two have a severe congenital malformation, one congenital hypopituitarism associated with mid-line defect, and one laparoschisis, and also two benign abnormalities were observed. The children with abnormalities had a leukemic mother, whilst no leukemic father had an abnormal child. It is well known that the toxic effect of chemotherapy is different in the male and the female gonad. These results are compared to those in the literature, and at present it appears difficult to form a clear opinion on the delayed teratogenic effect of chemotherapy. Fecundity and the risk for future generations are unknown. The opening of an international registry would be useful.

Regulation of erythropoietin production in a case of congenital erythropoietin-dependent pure erythrocytosis.

In a patient with congenital erythropoietin-dependent pure erythrocytosis (EDPE) associated with hypersensitivity of erythroid progenitor cells to erythropoietin (Epo), the investigations planned to elucidate the mechanism responsible for hormone hyperproduction revealed that Epo synthesis was (1) independent of normal oxygen-mediated feedback induced by phlebotomy; (2) not modulated by adenosine as a second messenger (the treatment with the adenosine antagonist theophylline in fact left unchanged the serum Epo levels); and (3) uninfluenced by iron therapy. The Epo dose-response curve for growth of erythroid progenitor was similar to that of three age-matched thalassemia patients with increased serum Epo levels, (sEpo) suggesting that the observed erythroid progenitors hypersensitivity to Epo could represent an ex vivo artifact induced by the increased sEpo levels.

Parathyroid hormone, calcitonin and vitamin D metabolites in beta-thalassaemia major.

Serum calcium (Ca), phosphorus (P), alkaline phosphatase (Al-P), parathyroid hormone (PTH), calcitonin (CT), 25-hydroxyvitamin D3 (25OHD3), 1,25-dihydroxyvitamin D3 (1,25(OH)2D3) levels and urinary excretion of Ca, P, hydroxyproline (OH-P) and cyclic AMP (cAMP) were determined in summer and in winter in 13 thalassaemic children (7 aged 3-5 years-group 1-; and 6 aged 10-13 years-group 2-), who had never taken vitamin D supplements or therapy, and in two groups of 14 controls of the same age. In thalassaemics of group 1 only serum Al-P levels and OH-P urinary excretion were higher than in controls (P less than 0.01). In thalassaemics of group 2 Ca (P less than 0.05), P (P less than 0.05), PTH (P less than 0.001), CT (P less than 0.001), 25OHD3 (P less than 0.05), 1,25(OH)2D3 (P less than 0.001) levels and cAMP urinary excretion (P less than 0.001) were lower, whereas Al-P (P less than 0.001) and CT (P less than 0.001) levels and urinary excretion of P (P less than 0.05) and of OH-P (P less than 0.001) were higher than in controls, both in summer and in winter. Advancing age induces in thalassaemic patients a decrease in PTH secretion and a consequent deficit in synthesis of 1,25(OH)2D3 that may explain some aspects of bone changes, which CT hypersecretion may tend to counteract.

Immature mesenteric teratoma in a male newborn infant: prenatal ultrasonographic diagnosis and surgical treatment.

A very rare case of mesenteric teratoma, detected by routine ultrasound screening at 20 weeks' gestation, is reported. The patient, a male newborn delivered at 40 weeks' gestation in good condition, was successfully operated on at birth. The post-operative course was regular and the baby is currently doing well.

Recombinant human G-CSF-mobilized peripheral blood stem cells for second allogeneic transplant after bone marrow graft rejection in children.

Two children affected by severe aplastic anaemia and sickle cell anaemia rejected the allogeneic bone marrow transplantation from an HLA-matched unrelated volunteer and an HLA-identical sibling, respectively. In both cases a second transplant using granulocyte-colony stimulating factor (G-CSF) mobilized peripheral blood stem cells (PBSC) was performed. Donors were the HLA-haploidentical mother and the same HLA-identical sibling who was employed for the first marrow allograft, respectively. Treatment with G-CSF and PBSC collection were well tolerated. Both patients had engraftment of donor haemopoiesis and did not experience severe graft-versus-host disease. These cases confirm that PBSC transplant should be considered as a feasible treatment to reverse graft failure in paediatric patients.

Transient focal leukoencephalopathy following intraventricular methotrexate and cytarabine. A complication of the Ommaya reservoir: case report and review of the literature.

A 14-year-old boy, suffering from acute lymphoblastic leukemia with meningeal involvement, was treated with intraventricular methotrexate and cytosine arabinoside, administered via an Ommaya reservoir (OR). Three months later, right occipital headache, vomiting, and lethargy appeared. Cerebrospinal fluid specimens showed increased proteins and a right frontal slow-wave focus was evident on the EEG recording. The computed tomography scan revealed white matter hypodensity within the right frontal and rolandic regions. After injection of medium contrast, an abscesslike hyperdensity appeared, surrounding both a well-placed cannula tip and the right frontal horn of the lateral ventricle. Brain swelling and shift signs were also evident. Nine cases of focal methotrexate leukoencephalopathy have been previously reported, and in six of these there was a misplaced OR cannula tip. The focal methotrexate leukoencephalopathy seems to be related to the neurotoxicity of the drugs administered, and may also exist with a well-placed OR cannula tip. Immediate removal of the catheter may be associated with a benign evolution.

Progressive myoclonic encephalopathy in X-linked hypogamma-globulinemia. Case report, review of the literature and its relationship with progressive encephalopathy in children with A.I.D.S.

A 7-year-old boy suffering from X-linked hypogammaglobulinemia and progressive myoclonic encephalopathy is reported. The onset of neurological disturbances is at four years of age with ataxic gait and myoclonic jerks. The EEG shows a progressive slowing of background activity, bilateral diffuse and repetitive, pseudoperiodic, high amplitude slow waves, myoclonic jerks polygraphically documented. The CT-scan shows generalized cerebral atrophy, white matter hypodensity--principally in the frontal regions -, multiple nodular calcifications, also in the basal ganglia. Two years after the onset of neurological signs, the boy is completely bedridden, spastic, dement and blind; the myoclonic jerks persist. Finally the relationship is discussed with both the previously reported patients with the same affection, and with similar progressive encephalopathy in children suffering from A.I.D.S.

Eighty-one percent event-free survival in advanced Burkitt's lymphoma/leukemia: no differences in outcome between pediatric and adult patients treated with the same intensive pediatric protocol.

BACKGROUND: Advanced Burkitt's lymphoma (BL) has an extremely poor prognosis in adults. With a previous protocol including CNS prophylaxis, 40% of our adult patients achieved CR and only 13% became long survivors. In 1988, following this poor experience, we adopted a very intensive pediatric-derived protocol. PATIENTS AND METHODS: Twenty-one consecutive patients, 8 adults (median age 35, stage III: 1; IV: 7; leukemias: 6) and 13 children (median age 10, state III: 8; IV: 5; leukemias: 4) were treated with the same protocol (POG 8617), based on alternate two-phase cycles with sequential high-dose CTX, VCR, ADM + CNS chemoprophylaxis (phase A) and HD MTX + HiDAC (phase B). Adults received 6 cycles, children 8; i.t. prophylaxis in phase B was omitted in adults. RESULTS: Twenty of 21 (95%) patients achieved CR (adults 100%, children 92%). Two patients died early; 2 relapsed at 4 and 9 months. With a median follow-up of 28 months (4-96), 17 patients (81%) are event free (adults 75%, children 85%). Severe infections affected 62% of adults and 15% of children. CONCLUSIONS: (1) The prognosis of adult advanced BL definitely improved with this intensive protocol. (2) There were no differences in outcome between adults and children. (3) Outcome of lymphoma and leukemia was similar. (4) Severe infections occurred frequently in adults. This intensive pediatric protocol requires a careful supportive therapy.

Growth hormone response following growth hormone releasing hormone injection in thalassemia major: influence of pubertal development.

Thirty-five patients with thalassemia major, aged 7 to 21 years, were studied to define the relationship between the pubertal development and the growth-hormone (GH) secretion during sleep, after administration of GH-releasing factor (hpGRF 1-44), and betaxolol-glucagon or arginin-insulin. Pubertal development was classified as being appropriate or delayed for chronological age. GH response to pharmacological stimuli and during sleep was not linked to the pubertal development according to the chronological age. The peak of GH secretion after GHRH injection was significantly delayed in thalassemic patients with retarded puberty. The integrated secretion of GH during the 120-min test was slightly but not significantly reduced in these patients. The prepubertal pattern of GHRH response was restored in the patients receiving substitutive therapy by HCG or testosterone. The alteration of GH response to GHRH in thalassemic patients is likely to be only due to delayed puberty and decreased endogeneous GHRH secretion since it is corrected by androgen or gonadotropin replacement.

Does the tuberous sclerosis complex include intracranial aneurysms? A case report with a review of the literature.

BACKGROUND: Tuberous sclerosis is a protean, genetically determined disease that may involve any organ or tissue and lead to a great number of symptoms and clinical features. OBJECTIVE: Diagnosis can be very difficult in cases with incomplete manifestations (formes fruste) lacking the classic signs of the disease. MATERIALS AND METHODS: We report a case fulfilling the diagnostic criteria for tuberous sclerosis (shagreen patches, hypomelanotic macules, renal cysts and angiomyolipomas, and "migration tracts" in the cerebral white matter) in association with a giant intracranial aneurysm, but lacking mental retardation, epilepsy and facial angiofibroma. RESULTS: Fourteen other cases of tuberous sclerosis and intracranial aneurysms, all but one without any clear sign of polycystic kidney disease, were found in the literature. CONCLUSION: We suggest that vascular dysplasias in general and aneurysms (mainly intracranial) in particular can be added to the other non-primary diagnostic features for the clinical diagnosis of tuberous sclerosis.