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A 27-month-old boy was admitted with speech abnormality, inability to walk, and involuntary movements. He was diagnosed with subacute sclerosing panencephalitis based on clinical and laboratory findings. Inosiplex (100 mg/kg/day orally) plus intrathecal interferon-alpha (3 million units/dose twice per week) in a standard regime were given. After four doses of interferon it was prescribed as 6 million units/dose/week because he had been admitted from a remote district. One day after giving the second dose of 6 million units of interferon, two generalized tonic-clonic seizures that occurred within an hour, associated with high fever, which lasted approximately 5 minutes were observed. An antiepileptic agent was not administered because electroencephalogram results did not indicate epileptic discharges. After this condition we returned to the first treatment protocol of interferon (3 million units/dose twice per week). At the current time, he is in the fifth month of follow-up and remains convulsion-free. To the best of our knowledge, seizures as a result of high-dose intrathecal interferon in subacute sclerosing panencephalitis has not been reported in the literature. Our patient demonstrated that it is reasonable to avoid the use of high-dose intrathecal interferon-alpha in childhood. 相似文献
994.
Simşek B Bayazit AK Ergin M Soran M Dursun H Kilinc Y 《Pediatric nephrology (Berlin, Germany)》2006,21(6):877-879
The kidney is frequently affected in patients with sickle cell syndrome, i.e., homozygous and heterozygous patients, with a consequently large spectrum of renal abnormalities that may range from minimal functional changes to chronic renal failure. Here, we present a 13-year-old boy with sickle cell anemia (SCA) (HbSS) who was referred to our unit with nephrotic syndrome. Renal biopsy revealed AA type amyloidosis on the basis of light microscopic findings, indicating Congo red staining and immunohistochemistry. He had neither a family history of familial Mediterranean fever (FMF) nor any complaint of recurrent abdominal pain, arthritis, and fever, but frequent painful vaso-occlusive crises. The patient was found to have no MEFV gene (Mediterranean feVer) mutations either. Painful episodic attacks might provoke recurrent acute inflammation, leading to repeated stimulation of acute phase responses and cause secondary amyloidosis. To our knowledge, this boy is the first case of SCA complicated by renal amyloidosis observed in childhood. 相似文献
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996.
Kalayci M Cağavi F Bayar U Gül S Dursun A Ermis B Açikgöz B 《Acta neurochirurgica》2006,148(10):1103-1106
Summary Neurocutaneous melanosis is an uncommon congenital disorder consisting of benign or malignant melanocytic tumors of the leptomeninges
with large or numerous cutaneous congenital melanocytic nevi. The Dandy-Walker malformation occurs as an enlarged posterior
fossa with high insertion of the tentorium, hypoplasia or aplasia of the cerebellar vermis, and cystic dilatation of the fourth
ventricle. To our knowledge, the association of these two conditions has been reported only 14 times. In this article, we
present a newborn patient with neurocutaneous melanosis associated with Dandy-Walker malformation, which was diagnosed by
magnetic resonance imaging. 相似文献
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998.
Hereditary renal adysplasia (HRA) is a rare autosomal dominant condition. Patients have several other anomalies including Potter facies, thoracic, cardiac, and extremity deformities. The case present dysmorphic facial features such as hypertelorism, prominent epicanthic folds, a flat and broad nose, choanal stenosis, low-set ears, and a receding chin. He had femoral bowing, hypoplastic right tibia and agenesis of the right foot. He had rich and thick skin. He had also a dysplastic empty scrotum, penile agenesis, and anal atresia. The autopsy revealed pulmonary hypoplasia, ventricular septal defect, bilateral multicystic renal dysplasia, agenesis of both ureter and bladder, intraabdominal testicles, and a single umbilical artery. The penile agenesis was first reported, and including the consanguinity in the parents might further delineate the bilateral multicystic HRA. Vater/caudal regression anomalies, Mullerian duct/aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies association, and Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies syndrome has been considered in differential diagnosis. 相似文献
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Altan-Yaycioglu R Gencoglu EA Akova YA Dursun D Cengiz F Akman A 《American journal of ophthalmology》2005,140(1):88-93
PURPOSE: To compare the short-term efficacy of collagen and silicone plugs for treating dry eye using quantitative lacrimal scintigraphy. DESIGN: Prospective randomized clinical trial. METHODS: In this institutional study, 24 dry eye patients were evaluated in two groups: group I (n = 22 eyes) received collagen plugs and group II (n = 26 eyes) received silicone plugs. Comparisons were made with normal control subjects (n = 22 eyes). Data for the Schirmer I test, tear break-up time, and ocular surface staining with rose bengal dye were recorded before and after punctal occlusion. Lacrimal scintigraphy was performed at each time point, and the time to half maximum activity on the ocular surface (T(1/2)), and the percentage retention of activity on the ocular surface at the end of the dynamic study (RI) were recorded. RESULTS: In both patient groups, Schirmer I results, tear break-up times, and rose bengal staining scores improved significantly after plug insertion. Mean T(1/2) values and RI values increased significantly in both groups (P < .0001 for both). The differences for these values between groups I and II was statistically insignificant (P > .05). CONCLUSIONS: Collagen and silicone plugs both resulted in significant increases in aqueous tear volume, half-life of nuclear material on the ocular surface, and percentage of nuclear material retention. The groups' post-insertion values for all parameters were similar. These results suggest that these two plug types have similar efficacy as treatments for dry eye in the short term. Further studies evaluating long-term results are required. 相似文献