: Objective To analyse the characteristics of symptoms, signs and electrophysiology in Charcot-Marie-Tooth disease (CMT) with peripheral myelin protein 22 (PMP22) gene duplication abnormality.Methods 61 patients with CMT, 14 patients with family history and 47 sporadic patients were included. PMP22 gene duplication fragment was detected with PCR-double enzyme cutting assay. Medical history, signs were collected. Some of them received lumbar puncture and sural nerve pathological examination. Results The main clinical manifestation of the patients with PMP22 gene duplication abnormlity were asthenia of both lower extremities, especially dorsiflexion of foot, accompanied with distal atrophy (especially bilateral legs), some with upper extremity distal atrophy, ankle hyporeflexia or vanished and sensory disturbance. Protein in cerebrospinal fluid may increase, giant potential and conduction velocity of sensory and motor nerve decreased. Sural nerve biopsies revealed demyelination accompanied with axonal degeneration.Conclusion The main clinical manifestation of patients with PMP22 gene duplication abnormlity is charactered as the distal atrophy and asthenia of lower limbs, accompanied with sensory abnormlity. Myelin sheath and axonal alteration were found in electromyogram and peripheral nerve pathology.

OBJECTIVETo summarize experience in the treatment of complex congenital intestinal atresia in children, so as to investigate the key points and effect of the operation.

METHODSMedical notes of 49 children with complex intestinal atresia treated between January 2012 and January 2018 were reviewed. The information of age, sex, age at operation, full-term or premature, birth weight, clinical manifestation, auxiliary examination, preliminary diagnosis, treatment process, discharge diagnosis, pathological results and prognosis of patients were analyzed.

RESULTSAll patients underwent surgical treatment, including 42 cases with laparotomy (85.7%) and 7 with laparoscopic surgery (14.3%); 1 case undergoing laparoscopic surgery was converted to laparotomy due to meconium peritonitis. The mean operation time was (147±43) min (70-270 min); the mean fasting time after surgery was (8±3) d (4-16 d); the mean parenteral nutrition time was (12±6) d (3-30 d). Eleven cases were discharged against medical after operation and lost to follow-up. Among rest 38 children, 1 child (2.6%) received intestinal resection and ostomy five days after operation due to gastrointestinal perforation; 1 child (2.6%) received conservative treatment one month later due to adhered intestinal obstruction and left hospital with cure; 1 child (2.6%) received enterodialysis and ileostomy eight days after operation due to anastomotic leak, and received the operation for the closure of fistula after three months; 4 children had complications including fluid and electrolyte disorders, anemia, hypoproteinemia and so on, and recovered after conservative treatments. Postoperative follow-up showed that 1 child with duodenal atresia had lower body weight at 6 month after operation, but the body weight returned to normal when the child was one year old; 1 child with preterm labor of 32 weeks was treated with enteral nutrition, and gradually restored the normal diet after 6 months. Growth retardation was not observed in other children.

CONCLUSIONSWith active treatment and reservation of normal bowel tube as much as possible during the operation, the prognosis of children with complex intestinal atresia is usually favorable.