Treatment strategy and prognosis analysis in children with type I esophageal atresia / 中华胃肠外科杂志

<p><b>OBJECTIVE</b>To analyze the postoperative short-term and long-term outcomes in the management of type I esophageal atresia, and to explore the ideal operative strategy.</p><p><b>METHODS</b>Clinical data of 22 patients with type I esophageal atresia treated from January 2005 to September 2012 were retrospectively reviewed. Of 22 patients, 6 patients gave up the treatment. Two underwent primary repair after birth. Of 14 patients undergoing cervical esophagostomy and gastrostomy, 8 patients received esophageal replacement. Postoperative short-term and long-term complications, nutritional state and neurodevelopment were studied on above 10 children with radical operations.</p><p><b>RESULTS</b>Of 10 patients with radical operation, the short-term complications were hydrothorax in 1 case, anastomotic leakage in 4, dumping syndrome in 1, anastomotic stricture in 1. The long-term complications were esophageal stricture in 2 cases, and repeated respiratory infection in 3. These complications could be managed successfully. The postoperative follow-up duration ranged from 2 to 62 months. Two cases were lost during follow-up after 2 years. Weight-for-age was normal in 2 patients, mild malnutrition in 5 patients, and moderate malnutrition in 1 patients. Neurodevelopment is significantly delayed as compared to normal children.</p><p><b>CONCLUSIONS</b>Operative strategy should be chosen according to the distance between proximal and distal esophagus in the treatment of type I esophageal atresia. The efficacy of radical operation is relative satisfactory in terms of short-term and long-term complications and the quality of life.</p>

Long-term outcomes and nutrition evaluation in children with total colonic aganglionosis / 中华胃肠外科杂志

<p><b>OBJECTIVE</b>To examine the long-term outcomes of total colonic aganglionosis (TCA) and to evaluate their nutritional status.</p><p><b>METHODS</b>Eleven pediatric patients treated for TCA between January 1999 and December 2010 were included in the study and followed up. Physical measurements including height, weight and laboratory tests were assessed. Anorectal functions were evaluated with Kelly score and quality of life(QOL) using questionnaire.</p><p><b>RESULTS</b>The length of follow-up ranged from 8 to 147 months. The children had satisfactory anorectal function (Kelly score, 5-6). One child had a Kelly score of 3. The children who were followed up less than 48 months had significant higher Kelly scores compared with those with more than 48 months follow-up(P<0.05). QOL was good in nine patients (QOL score, 9-10) and moderate (score, 7-8) in 2 patients. Weight-for-age was normal in 2 patients, mild malnutrition in 6 patients, and moderate malnutrition in 3 patients. Height-for-age was normal in 6 patients, mild malnutrition in 3 patients, and moderate malnutrition in 2 patients. The serum albumin was(49.0±2.7) g/L in children with well-educated parents, significantly higher than those with poorly-educated parents(44.3±1.9) g/L(P<0.05).</p><p><b>CONCLUSIONS</b>Long-term outcomes of children with TCA are satisfactory with good anorectal function and quality of life. Low body weight is more common than low height. Children with well-educated parents have better nutrition status.</p>

Wolman disease with novel mutation of LIPA gene in a Chinese infant / 中华儿科杂志

<p><b>OBJECTIVE</b>To explore the clinical characteristics of Wolman disease and diagnostic methods using enzymatic and molecular analysis.</p><p><b>METHOD</b>Lysosomal acid lipase activity was measured using 4-methylumbelliferyl oleate in the leukocytes of an infant suspected of Wolman disease and LIPA gene mutational analysis was performed by PCR and direct sequencing in the proband and his parents. After the diagnosis was confirmed, the clinical, biochemical, radiological and histopathological findings in this case of Wolman disease were retrospectively reviewed.</p><p><b>RESULT</b>The sixteen-day-old boy was failing to thrive with progressive vomiting, abdominal distention and hepatosplenomegaly. Abdominal X-ray revealed adrenal calcifications which were confirmed on abdominal CT scan. Xanthomatosis were observed on enlarged liver, spleen and lymph nodes during abdominal surgery. Liver and lymph node biopsy showed foamy histiocytes. The lysosomal acid lipase activity in leukocytes was 3.5 nmol/(mg·h) [control 35.5 - 105.8 nmol/(mg·h)]. Serum chitotriosidase activity was 315.8 nmol/(ml·h) [control 0 - 53 nmol/(ml·h)]. The patient was homozygote for a novel insert mutation allele c.318 ins T, p. Phe106fsX4 in exon 4 on LIPA gene. His both parents were carriers of the mutation.</p><p><b>CONCLUSION</b>The clinical features of Wolman disease include early onset of vomiting, abdominal distention, growth failure, hepatosplenomegaly and bilateral adrenal calcification after birth. A plain abdominal X-ray film should be taken to check for the typical pattern of adrenal calcification in suspected cases of Wolman disease. The enzymatic and molecular analyses of lysosomal acid lipase can confirm the diagnosis of Wolman disease.</p>