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BACKGROUND: Klippel-Trenaunay-Weber Syndrome (KTWS) is a rare neurocutaneous syndrome. Hemimegalencephaly (HME) and seizure episodes have been reported previously in a few cases with KTWS. CASE PRESENTATION: We report here a 3 day-old girl with partial motor seizures, extensive port-wine staining and mild structural deformities in the feet, and a hemimegalencephaly. CONCLUSION: Occurrence of partial motor seizures in addition to bilateral lower extremities extensive port-wine staining is a unique feature seen in our case.
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OBJECTIVE: Tuberous sclerosis complex is an autosomal dominant neurocutaneous disease that presents with dermatological, neurological, cardiac, renal and ocular symptoms. We described the variable clinical manifestations, neuroimaging findings, Age and sex distribution of tuberous sclerosis in a group of 81 patients referred to our clinic. MATERIALS & METHODS: Based on the diagnostic criteria, totally 81 tuberous sclerosis patients with sufficient data were enrolled into the study. These children were referred by child neurologists. RESULTS: The mean age of the patients was 52 months (range, 7-180 months). There were 28 girls and 53 boys. A positive familial history of TSC was seen in 29.6% of the patients. Hypo pigmented macules were the most common manifestation (82.7%). Facial angiofibroma, shagreen patches, café-au-lait lesions and seizure were observed in 32.1%, 12.3%, 7.4%. and 74.1% of the studied cases, respectively. Infantile spasm was present in the clinical course of 32.1 % of the patients. Cortical tubers were the most common MRI finding which were seen in 21 cases (25.9%). Subepandymal giant cell astrocytoma was seen in four (4.9%) patients and intracranial calcification (detected by CT scan) was observed in 18 (22.2%) of the patients. CONCLUSION: Dermatological and neurological findings were the most common symptoms in tuberous sclerosis with a significant correlation between them. Thus, careful skin examination is necessary in epileptic patients for detection of the mentioned lesions.
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OBJECTIVE: Successful results after one-stage trans-anal pull-through (OSTAPT) operation for Hirschsprung's disease (HD) depend on accurate identification of the aganglionic segment in intra-operative frozen section (FS). Misinterpretation of the findings of the rectal biopsy is an anxiety-evoking pitfall for the surgeon. This study aims to describe our experiences in comparing results of FS and permanent Section (PS) rectal biopsies in children with HD who were candidates for OSTAPT in a single-step operation. METHODS: Subjects under the age of 14 years, admitted from March 2000 to July 2008 in a university-affiliated children's hospital for open rectal biopsy to diagnose HD were included in the study. All biopsies were taken 2-3 cm above the dentate line. 210 specimens of full-thickness rectal biopsy were obtained for both frozen section and permanent biopsy from all patients, examined by two well experienced pediatric pathologists for ascertaining the presence of ganglion cells, and the results were compared. Analysis was performed by SPSS Software version 11.5. FINDINGS: Two-hundred one infants and children underwent FS rectal biopsy to exclude HD. Positive results were seen in 63.8% of the specimens examined as PS and in 58.3% of FS samples. 93.9% of positive results in FS studies were confirmed by PS studies. 6.1% of FS reports were false positive and 21.7% were false negative (P<0.001). The sensitivity of FS was 85.8% and specificity 90.2%. Positive predictive value (PPV) was 93.9% and negative predictive value (NPV) was 78.3% in FS studies (P<0.001). The accuracy of FS was 80.4%. CONCLUSION: Although FS of the rectal biopsy is useful in defining the aganglionic segment during operation, according to this study, it cannot be used as the sole base for performing primary pull-through operation before the results of the permanent section are on hand.
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Insufficient control of post-thoracotomy pain can produce breathing dysfunction and long term staying in neonatal intensive care unit (NICU). It can increase the incidence of pulmonary complications such as atelectasis, pneumonia and respiratory failure. The aim of this study was to determine the analgesic effect of continuous extrapleural nerve block, using ropivacaine, in neonates younger than 7 days old with esophageal atersia (EA) and the incidence of atelectasis and duration of hospitalization in NICU. For this purpose, from February 2007 till January 2009 in Mofid children's hospital, 68 neonates under 7 days old whom were candidate for thoracotomy due to esophageal atresia were, randomly divided into two groups in a controlled clinical trial. The cases received extrapleural infusion of ropivacaine 0.5% (0.1 mL/kg/h for 48 h) and controls received acetaminophen 20 mg/kg three times a day via the rectal route. Hemodynamically unstable patients and those who suffered from hospital infections were excluded from the study. After the surgery, all patients had spontaneous breathing without endotracheal tube and stable hemodynamic in NICU. Pain level was determined for each neonate, based on the neonatal infant pain scale (NIPS) grading. The incidence of atelectasis in the first 48 h after operation and throughout the NICU staying were also determined. Results showed that there were no significant difference in the mean age, sex proportions and mean weight between the two groups. The mean pain score in the group received ropivacaine (1.9 ± 0.7) was significantly less than the control group (5.2 ± 0.6) (p < 0.001). Five percent of cases (n = 1) and 100% of the control group (n=20) had pain scores equal or greater than 3 (p < 0.001). The incidence of atelectasis among cases was less than the control group (35% vs. 65% respectively; p = 0.58). Duration of hospitalization in the case group (12 ± 5.6 days) had no significant difference from the control group (13.6 ± 4.8 days) (p = 0.3) In conclusion, the results showed that continuous extrapleural infusion of ropivacaine reduces the pain noticeably and atelectasis relatively, after thoracotomy in neonates younger than 7 days suffering from EA, compared to the acetaminophen group.