An Infantile Case of Sturge-Weber Syndrome in Association with Klippel-Trenaunay-Weber Syndrome and Phakomatosis Pigmentovascularis

Sturge-Weber syndrome can be associated with facial port-wine stains and intracranial calcification, and concurrent Klippel-Trenaunay-Weber syndrome has been reported. Klippel-Trenaunay-Weber syndrome is a rare congenital mesodermal phakomatosis characterized by cutaneous hemangiomas, venous varicosities and soft tissue or bone hypertrophy of the affected extremities. This report is presented a rare case of the Sturge-Weber syndrome in combination with the Klippel-Trennaunay syndrome and phakomatosis pigmentovascularis in a 4-month-old infant. He showed nevus flameus on the right leg and both part of the face and back, leptomeningeal angiomatosis on right hemisphere, hypertrophy of the right leg, hemiconvulsion on the left and also evidences of congenital glaucoma and nevus of Ota. Very rare case combined with these three kinds of phakomatosis has been reported.

Etiologic Diagnosis and Clinical Characteristics of Chronic Recurrent Chest Pain in Children / 소아과

PURPOSE: To identify the causes and clinical characteristics, and the efficacy of various diagnostic approaches, we studied, prospectively, pediatric patients with chronic recurrent chest pain. METHODS: A prospective study of 122 patients with chronic recurrent chest pain from June 1998 to June 2003 was performed. The male and female ratio was 81:41, age 9.3+/-3.1 year. A single chart including pain description(histoy) and pain questionaire, with associated symptoms, was used for systematic history taking. The patients were devided in two groups, Group A, before June 2001(n=70), Group B, after June 2001(n=52). Chest X-ray and ECG were checked in all patients. Allergy tests and echocardiography, 24 hour ECG monitoring, exercise tests, pulmonary function tests, and gastrointestinal fiberendoscopy were performed selectively. RESULTS: Idiopathic origins were most common(32%). The remaining causes were psychogenic(23%) and exercise-induced asthma(20.5%), hyperventilation syndrome(9.1%), tachyarrhythmia(4.9%), cardiac (4.1%), pulmonary(3.3%), reflux esophagitis(2.5%), in order. The positive rate of allergy tests(24%) was higher than that of cardiac examinations(11-20%). Exercise-induced asthma was more common than psychogenic causes after June, 2001. Various abdominal symptoms accompanied idiopathic and psychogenic chest pains, and hyperventilation syndrome. Headaches were more commonly found in psychogenic pain, but chest tightness and dyspnea were common in hyperventilation syndrome. About half of exercise-induced asthma patients had symptoms of allergic rhinitis. CONCLUSION: In the majority(72%) of exercise-induced asthma, the chest pain was induced or aggravated by exercise, and relieved by rest. Causative antigens were detected in 69.2% of group B patients with exercise-induced asthma. Exercise-induced chest pain might be a first manifestation in allergy patients. So, we recommand allergy tests for patients with recurrent chest pains induced or aggravated by exercise. Hence, cardiac examinations such as echocardiography or 24 hour ECG monitoring could be performed selectively, case by case.

The Clinical and Laboratory Features of Kawasaki Disease with Nonresponsibility to the Acute Antiinflammatory Treatment

PURPOSE: To assess the clinical features and laboratory findings in Kawasaki patients with nonresponsibility to the acute antiinflammatory treatment, and identify the risk factors for the nonresponsibility, we reviewed the medical records of patients with Kawasaki disease. METHODS: A retrospective study of 177 patients with Kawasaki disease at Wonkwang University Medical Center from June, 1997 to June, 2002, was performed. High dose intravenous immune globulin(IVIG) and aspirin were all used for the initial acute antiinflammatory treatment. Two groups, group A(n=19) of initial nonresponders and group B(n=158) of initial responders were compared clinically and laboratorically. RESULTS: Nineteen(10.7%) of 177 patients hardly responded to the initial antiinflammatory treatment. Patients with failure to respond to initial treatment(group A) did not differ from the control group in terms of age, sex, WBC count, coronary abnormalities, and evidence of pyuria. Compared with initial responders(group B), the patients who were retreated(group A) had a significantly shorter fever- admission interval(P=0.041), and a higher level of both AST/ALT(P=0.011) and ASO titier(P=0.000). CONCLUSION: Among Kawasaki disease patients studied, retreatment group with initial nonresponders had significantly shorter fever-admission interval, and higher both AST/ALT level and ASO titer, than the initial response group.

A Case of Thyroid Papillary Carcinoma Presenting as a Miliary Pulmonary Infiltration in 8 Year Old Girl / 소아알레르기및호흡기학회지

Papillary carcinoma of the thyroid is the most common thyroid cancer in children. It usually occurs in the teenage female and presents as a mass within the thyroid itself. In the great majority of cases the only presenting sign is a neck mass. In a high percentage (60-80%) there are also palpable lymph nodes. A 8 years old female patient was admitted because of palpable neck mass and miliary shadow in chest X-ray. On examination, a soft nontenter nodular mass 1x1 cm in size was palpated at supraclavicular area of left mid-neck. In chest X-ray and CT, well demarcated nodular milialy infiltration was fully distributed in both lung. After the initial treatment failure for the miliary tuberculosis, the fine needle aspiration biopsy was performed. The Papillary carcinoma of the thyroid was diagnosed. Total thyroidectomy and entire lymph node excision were performed, followed by radioiodine ablation and hormonal therapy. The patient has been improved clinically. We are reporting a case of thyroid papillary carcinoma presenting as a pulmonary miliary infiltration with brief review of the literature.

The Effects of Divalant Cation on the Idarubicin-Induced Apoptosis / 대한소아혈액종양학회지

PURPOSE: Zinc ion is critical for the functional and structural integrity of eukaryotic cells and participate in the regulation of apoptosis. In general, zinc inhibits a nuclear endonuclease, thereby causing inhibition of apoptosis. Recent studies have pointed to a role for a family of caspase proteases that act upstream of endonuclease. The widely used chemotherapeutic agents exert effects by inducing of apoptosis in sensitive tumor cells. In this study, we investigated the effects of zinc ion and other divalent cation on the idarubicin (IDA)-induced apoptosis of HL-60 cells. In addition, to determine whether Zn inhibits an event upstream of endonuclease activation, we analysed the activity of caspase-3, 9 and proteolytic cleavage of procaspase-3 and PARP [poly (ADP-ribose) polymerase]. METHODS: HL-60 cells were cultured in RPMI 1640 and treated with various doses and time periods of IDA with or without pretreatment of ZnCl2, CaCl2 and MgCl2. Cell viability was measured by trypan blue staining. For detection of apoptotic death, cells were stained with Hoechst dye and observed under fluorescence microscopy. The activities of caspase-3 and caspase-9 were measured by the proteolytic cleavages of Ac- DEVD-AMC and Ac-LEHD-AFC as flurogenic substrates, respectively. The proteolytic cleavages of procaspase-3 and PARP were analyzed by Western blotting using anti- caspase-3 and anti-PARP antibody, respectively. RESULTS: IDA induced the apoptotic death of HL-60 cells in a dose and time dependent manner, which was characterized by increasing chromatin condensation and DNA fragmentation. Pretreatment of HL-60 cells with ZnCl2 caused potent inhibition of IDA-induced apoptosis. Consistent with apoptotic death of HL-60 cells, IDA induced the catalytic activation of caspase-3 and caspase-9. After pretreatment of ZnCl2, the activation of caspase- 3 and the proteolysis of PARP induced by IDA were potently inhibited. But, after pretreatment of CaCl2 and MgCl2, there were no significant changes of IDA-induced apoptosis and proteases activity. CONCLUSION: Zinc ion suppressed the IDA-induced apoptosis via the inhibitions of caspase-9 and caspase-3. But calcium and magnesium ions didn't affect the IDA-induced apoptosis.