Chelation therapy with oral solution of deferiprone in transfusional iron-overloaded children with hemoglobinopathies.

Iron overload in hemoglobinopathies is secondary to blood transfusions, chronic hemolysis, and increased iron absorption and leads to tissue injury requiring the early use of chelating agents. The available agents are parenteral deferoxamine and oral deferiprone and deferasirox. There are limited data on the safety and efficacy of deferiprone at a very young age. The aim of our study was the presentation of data regarding the use of oral solution of deferiprone in 9 children (mean age 6.5, range 2-10) with transfusion dependent hemoglobinopathies (6 beta thalassemia major, 1 thalassemia intermedia, and 2 sickle cell beta thalassemia). The mean duration of treatment was 21.5 months (range 15-31). All children received the oral solution without any problems of compliance. Adverse reactions were temporary abdominal discomfort and diarrhea (1 child), mild neutropenia (1 child) that resolved with no need of discontinuation of treatment, and transient arthralgia (1 child) that resolved spontaneously. The mean ferritin levels were significantly reduced at the end of 12 months (initial 2440 versus final 1420 µ g/L, P < 0.001). This small study shows that oral solution of deferiprone was well tolerated by young children and its use was not associated with major safety concerns. Furthermore, it was effective in decreasing serum ferritin.

A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns-Sayre syndrome.

UNLABELLED: Kearns-Sayre syndrome (KSS) is a rare mitochondrial DNA deletion syndrome defined as the presence of ophthalmoplegia, pigmentary retinopathy, onset less than age 20 years, and one of the following: cardiac conduction defects, cerebellar syndrome, or cerebrospinal fluid protein above 100 mg/dl. KSS may affect many organ systems causing endocrinopathies, encephalomyopathy, sensorineural hearing loss, and renal tubulopathy. Clinical presentation at diagnosis is quite heterogeneous and, usually, few organs are affected with progression to generalized disease early in adulthood. We present the case of a boy with KSS presenting at the age of 5 years with myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome. The proper replacement treatment along with the administration of mitochondrial metabolism-improving agents had a brief ameliorating effect, but gradual severe multisystemic deterioration was inevitable over the next 5 years. CONCLUSION: This report highlights the fact that in case of simultaneous presentation of polyendocrinopathies and renal disease early in childhood, KSS should be considered.

Pulmonary embolism after snake bite in a child with Diamond-Blackfan anemia.

Diamond-Blackfan anemia (DBA) is a rare, congenital, pure red blood cell aplasia owing to gene defects affecting the function of ribosomal proteins, essential for erythroid maturation. Iron overload is a serious complication of chronic transfusions, which may lead to cardiac toxicity and endothelial damage. We report a case of pulmonary embolism, observed after viper bite in a transfusion-dependent child with DBA without known inherited thrombophilic factors. Embolic events are uncommon after viper bites, which they usually cause consumption coagulopathy, resulting in hypocoagulable state. DBA has not been earlier correlated with thrombotic episodes. In our patient, we suggest an iron overload-induced hypercoagulability state, which in the presence of a procoagulant substance lead to the development of a thromboembolic event.

Serum adipocytokine and vascular inflammation marker levels in Beta-thalassaemia major patients.

BACKGROUND/AIM: The adipocytokines leptin and adiponectin represent a critical link between metabolism, immunity and chronic inflammation. A chronic vascular inflammatory state plays an important role in the pathophysiology of thalassaemia. We aimed to analyze the levels of these adipocytokines and determine any possible correlations with disease severity or vascular inflammation markers in beta-thalassaemia. METHODS: Serum leptin, adiponectin, high-sensitivity C-reactive protein, endothelins, vascular adhesion molecule-1, intracellular adhesion molecule-1 and L- and E-selectin were measured in 28 beta-thalassaemia patients and compared with levels in healthy controls. RESULTS: Leptin was significantly lower in patients compared to controls (2.23 ± 1.8 vs. 10.24 ± 5.78 µg/l; p = 0.0018), whereas adiponectin was elevated (11.75 ± 5.67 vs. 6.83 ± 2.75 µg/l; p = 0.009). For both adipocytokines, no correlations were found with characteristics such as age, gender, type of chelation, body mass index z score or haemoglobin. Leptin, but not adiponectin, was negatively correlated with ferritin (p = 0.032, r = -0.61). No correlations were found between leptin and the inflammation markers. However, adiponectin was positively correlated with endothelin-1 (p = 0.022, r = 0.63). CONCLUSIONS: Serum leptin is low in beta-thalassaemia, perhaps due to the toxic effect of iron overload on adipose tissue. Paradoxically, adiponectin levels are high and positively correlated with endothelin-1, raising questions about the pro- or anti-inflammatory role of this adipocytokine in beta-thalassaemia.

Acute febrile neutrophilic dermatosis (Sweet's syndrome) in a child, associated with a rotavirus infection: a case report.

INTRODUCTION: Sweet's syndrome characterized by fever, blood neutrophilia and inflammatory skin lesions, is rarely diagnosed in children. It presents in three clinical settings: classical Sweet's syndrome, usually after a respiratory tract infection; malignancy-associated, frequently related to acute myelogeneous leukemia; and drug-induced. We present, to the best of our knowledge, the first case of a rotavirus -infection-related Sweet's syndrome. CASE PRESENTATION: An 18-month-old boy of Hellenic origin was referred to us with diarrhea, fever, neutrophilia, typical skin lesions, asymmetrical hip arthritis and oropharyngeal involvement. A skin biopsy confirmed the diagnosis. Thorough screening did not reveal any underlying systemic illness, except for the confirmation of an overt rotavirus infection. The syndrome responded promptly upon corticosteroid administration; no recurrence was observed. CONCLUSION: Besides describing the connection of Sweet's syndrome to a rotavirus infection, this case report is also a reminder that in a child presenting with a febrile papulo-nodular rash with neutrophilia Sweet's syndrome should be included in the differential.

Cytokine and adhesion molecule expression evolves between the neutrophilic and lymphocytic phases of viral meningitis.

Viral meningitis is characterized by cerebrospinal fluid (CSF) lymphocyte pleocytosis, although neutrophils may predominate in the early phase. The T helper 1 (Th1)/Th2 cytokine balance and expression of adhesion molecules seem to be involved in the CSF chemotaxis. We aimed to determine expression of cytokines and adhesion molecules in enteroviral meningitis. We investigated the serum and CSF levels of adhesion molecules (E-selectin, L-selectin, vascular cell adhesion molecule-1 [VCAM-1], and intracellular adhesion molecule-1 [ICAM-1]) and cytokines (interleukin-12 [IL-12] and IL-4) in 105 children during an outbreak of enteroviral meningitis. Diagnosis was confirmed with positive polymerase chain reaction (PCR) and/or serology for echovirus or Coxsackie virus, and matched with control subjects for clinical features but with negative PCR and/or serology. Apart from VCAM-1, the CSF levels of all investigated inflammatory molecules were significantly increased. In serum, sL-selectin and ICAM-1 levels were significantly higher than control subjects. Serum and CSF L-selectin, serum VCAM-1, and CSF IL-12 were all observed to be expressed in significantly higher levels in the neutrophil-dominant subgroup (72% had duration of symptoms <24 h) than in the lymphocyte-dominant group (87.5% had duration of symptoms >24 h). Serum and CSF ICAM-1 was found at significantly higher levels in the latter group. Evolving expression of adhesion molecules and cytokines indicates a shift from Th1 to Th2 immune responses as infection progresses.

Serum levels of soluble interleukin-2 receptor alpha (sIL-2Ralpha) as a predictor of outcome in brucellosis.

OBJECTIVES AND METHODS: Brucellosis is characterized by chronicity and relapses despite efficacious treatment. Cytokines and especially the Th1/Th2 balance may be involved in the susceptibility or resistance to the Brucella species. In order to identify predictors of treatment outcome, we measured the pre and posttreatment levels of serum interleukin-2 (IL-2) and soluble IL-2 receptor alpha (sIL-2Ralpha) in 20 children with brucellosis. All children were treated for 6 weeks and three of them (15%) presented with a relapse at 2, 3 and 8 months after treatment had ended. RESULTS: Serum IL-2 levels, both pretreatment and posttreatment, did not significantly differ between patients and controls. By contrast, pretreatment sIL-2Ralpha levels were significantly higher in patients (P< or =0.0001) than in controls. sIL-2Ralpha levels significantly declined (P<0.001) after the 6-week antibiotic regimen in the 17 children who subsequently had a good outcome without relapses, but not in the three patients who relapsed. CONCLUSIONS: A decline in serum sIL-2Ralpha levels might be used as a marker of treatment efficacy in brucellosis.

Accidental drainage of a cerebral hydatid cyst into the peritoneal cavity.

Intracranial hydatidosis is more common in children than in adults. The most severe complication is anaphylactic response after direct rupture into the subarachnoid spaces. We report a case of brain hydatid cyst that was accidentally drained into the peritoneal cavity and was not complicated by an anaphylactic response or dissemination.