Kawasaki disease in Greek children: a retrospective study.

BACKGROUND: The studies of series of children with Kawasaki disease (KD) in Greek children are limited. OBJECTIVES: To evaluate the epidemiology, clinical manifestations, laboratory findings, course and outcome of complete KD in Greek children. METHODS: Patients with complete KD who were discharged from our hospital and followed up routinely between 2004 and 2011 were included in the study. The relevant data were collected using a standardized form. RESULTS: There were 49 children (27 boys, 22 girls), mean age: 2.14 years. A seasonal peak of the disease during spring and summer months was detected. Changes of the extremities and cervical adenopathy were the least commonly met criteria for the complete KD diagnosis. The mean time of starting treatment was 6.5 days from the disease onset. The majority of patients, 42/49, responded well to a single infusion of intravenous immunoglobulin (IVIG), while 7/49 patients who had persistent fever despite initial therapy with IVIG needed additional treatment with either a second dose of IVIG(5), intravenous pulse of methyl prednisolone(1) or infliximab(1). Coronary artery abnormalities were detected echocardiographically in 17/49 patients. Most of them (15/17) developed transient dilatations which resolved by the 8(th) week of disease onset while only 2 patients, despite early onset of treatment, developed coronary artery aneurysms which required coronary artery bypass grafts at a later stage. CONCLUSIONS: Major epidemiologic features of KD detected among Greek children are similar to those reported in other populations. This study also demonstrates that significant cardiac complications may still occur following the disease even if it is diagnosed and treated early.

Skin biopsy for the diagnosis of Alport syndrome.

Alport syndrome (AS) is the most common hereditary nephritis often associated with extrarenal manifestations. It was first described by Alport on 1927. There is a primary disorder in collagen type IV which is the main component of the basement membranes. Alport syndrome is more frequently inherited as an X-linked and less commonly as an autosomal dominant or autosomal recessive trait. We describe the case of a 3-year-old boy with the X-linked variant of AS. The diagnosis was at first speculated from the child's detailed family history and was finally confirmed by a skin biopsy. Skin biopsy is an efficient and less invasive method for the X-linked variant of the AS diagnosis.

Low vitamin D status in mother-newborn pairs in Greece.

Adequate vitamin D status during pregnancy is crucial to assure normal fetal skeletal growth and to provide the vitamin D needed for infants' stores. To determine the actual situation in Greece, we evaluated serum 25-hydroxyvitamin D (25[OH]D), calcium (Ca), phosphorus (P), alkaline phosphatase (ALP), parathyroid hormone (PTH), osteocalcin (OC), and calcitonin (CT) concentrations in 123 healthy mother-newborn pairs recruited from a public hospital of the sunny Athenian region. Blood samples were obtained from pregnant women at term and their neonates (cord blood). The study was conducted between June 2003 and May 2004. None of the mothers has been prescribed vitamin D supplements. Maternal 25(OH)D levels (16.4 [11-21.1] ng/mL) were significantly lower than umbilical venous blood concentrations (20.4 [13.9-30.4] ng/mL) (P < 0.001). A strong correlation was observed between maternal and infant 25(OH)D concentrations (r = 0.626, P < 0.001). Twenty-four (19.5%) mothers and 10 (8.1%) neonates had 25(OH)D <10 ng/mL. Pregnant women who delivered in summer and autumn reported higher levels of 25(OH)D (18.9 [12.9-23.3] ng/mL) than those who delivered in winter and spring (14.6 [10.1-18.5] ng/mL) (P = 0.006). Mothers with a darker phototype had lower levels of serum 25(OH) D than those with a fair phototype (P = 0.023). Umbilical venous blood Ca, P, OC, and CT levels were significantly higher than maternal venous blood levels (P < 0.001). PTH umbilical levels were lower than maternal levels (P < 0.001). Apparently, the abundant sunlight exposure in Athens is not sufficient to prevent hypovitaminosis D. Pregnant women should be prescribed vitamin D supplementations, and the scientific community should consider vitamin D supplementation of foods.

MRI investigation for neurofibromatosis type 1 lesions during pregnancy--a case report.

BACKGROUND: Neurofibromatosis type 1 (NF1) is a genetic disorder of the nervous system that causes tumor growth on the nerves, skin changes and bone deformities, and it is reported to be associated with adverse perinatal outcome in pregnant women. CASE: We report a case of MRI investigation of a pregnant woman with a known NF1 disease who showed exacerbation of skin lesions during pregnancy. No dangerous lesions that could compromise pregnancy outcome were detected, thus allowing the pregnancy to continue to term uneventfully. CONCLUSION: MRI has strong indications for the follow-up of pregnant patients with neurofibromatosis as it can detect lesions that can serve as risk factors for pregnancy complications.

Mucoepidermoid carcinoma of the bronchus.

Bronchoscopy in a 4.5-year-old girl with recurrent pneumonia showed an exophytic endobronchial mass. Biopsy disclosed microscopic and ultrastructural features of a low-grade mucoepidermoid carcinoma. Complete cure was accomplished by surgical removal of the tumor and right lower lobe.

ARDS in a patient with homozygous beta-thalassemia due to yersiniosis.

We report a case of Yersinia enterocolitica sepsis syndrome and the acute respiratory distress syndrome in a chronically transfused adolescent with beta-thalassemia. This manifestation of serious Y. enterocolitica infection has not previously been reported. Dyspnea, hypoxia, and fever were the principal features of the clinical presentation. The acute onset of respiratory symptoms occurred after appendectomy. Chest radiographs revealed frontal bilateral infiltrates and alveolar consolidation to three quadrants. Y. enterocolitica was identified from blood and intraoperative appendix cultures. Although there was no need for mechanical ventilation, a remarkable persistence of clinical and X-ray findings was noted. Therapy with high levels of oxygen, and intravenous amikacin and piperacillin/tazobactam led to a favorable outcome.

The interaction of alpha zero thalassaemia with Hb Icaria: three unusual cases of haemoglobinopathy H.

The clinical, haematological, biosynthetic and molecular data of three Greek haemoglobin H (HbH) disease patients with a distinctive clinical phenotype are described. During infancy all three patients had unusually severe clinical manifestations for HbH disease, with anaemia necessitating blood transfusions, signs of bone changes, growth impairment, and splenomegaly. Molecular analysis identified a rare alpha-thalassaemia genotype (--Med/ alpha Ic alpha). Splenectomy resulted in marked amelioration of the clinical signs; post splenectomy all three patients preserve adequate haemoglobin levels (9-10 g/dl) with growth restored to normal. Despite the initial severe clinical phenotype in these patients, our experience indicates that splenectomy modifies the clinical course to that of mild thalassaemia intermedia. This observation should be considered carefully when giving genetic counselling to families carrying the rare Hb Icaria mutation and an alpha zero thalassaemia mutation.