Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency.

Familial multiple intestinal atresias is an autosomal recessive disease with or without combined immunodeficiency. In the last year, several reports have described mutations in the gene TTC7A as causal to the disease in different populations. However, exact correlation between different genotypes and various phenotypes are not clear. In this study, we report identification of novel compound heterozygous mutations in TTC7A gene in a Malay girl with familial multiple intestinal atresias and severe combined immunodeficiency (MIA-SCID) by whole exome sequencing. We found two mutations in TTC7A: one that destroyed a putative splicing acceptor at the junction of intron 17/exon 18 and one that introduced a stop codon that would truncate the last two amino acids of the encoded protein. Reviewing the recent reports on TTC7A mutations reveals correlation between the position and nature of the mutations with patient survival and clinical manifestations. Examination of public databases also suggests carrier status for healthy individuals, making a case for population screening on this gene, especially in populations with suspected frequent founder mutations.

Hyperplastic gastric polyps in an infant, mimicking infantile hypertrophic pyloric stenosis - a case report and review of the literature.

No abstract available.

Mesocolic hernia: a rare cause of intestinal obstruction in childhood.

Mesocolic hernia is a rare cause of intestinal obstruction in children. The diagnosis involves a high index of suspicion and prompt intervention to prevent strangulation and a high morbidity. The embryological basis of the condition is of paramount importance to assist the eventual surgical correction.

Twisted fate of bladder catheters.

Catheter knotting is a rare complication of bladder catheterisation. Retention of catheter parts resulting in calculus formation is even rarer. We report a case of a vesical calculus formed over a broken and retained supra-pubic catheter which to the best of our knowledge has yet to be reported, along with three other cases of bladder catheter knotting.

Open lung biopsy for diffuse parenchymal lung disease in children.

An open lung biopsy was performed in 12 children with diffuse parenchymal lung disease. A definitive histopathological diagnosis was obtained from all procedures but determined treatment options in only 10 children (83%). Three (25%) children were ventilated for respiratory failure prior to the procedure. Four (44%) of the other 9 children required ventilatory support after the procedure. Three (25%) children developed post-op pneumothorax that resolved fully with chest tube drainage. There were no deaths as a direct result of the procedure. Open lung biopsy is useful in providing a definitive diagnosis in children with diffuse parenchymal lung disease and determining treatment in the majority of cases. The procedure was well-tolerated with minimal complications.

Congenital esophageal stenosis: report of three cases, literature review, and a proposed classification.

The aim of this paper is to report three cases of congenital esophageal stenosis (CES) of different anatomical varieties: (1) stenosis due to tracheobronchial remnants (TBR) involving the lower third of the esophagus; (2) fibromuscular stenosis (FMS) of the middle third; and (3) a membranous diaphragm (MD) involving the lower third. The first two patients were treated by segmental resection of the esophagus and end-to-end anastomosis with dramatic relief of symptoms. The third responded to dilatation. CES is a rare lesion, and about 500 cases are reported in the literature. CES due to TBR and fibromuscular hypertrophy is considered a segmental stenosis, as it involves a length of the esophageal wall, whereas the MD consists of mucosal folds and does not involve its muscular layer. The clinical presentation is varied, and a high index of suspicion is essential to arrive at an early diagnosis. Management depends on the type and severity of the stenosis. Stenosis due to TBR requires segmental resection. FMS may respond to dilatation, but severe degrees of stenosis require segmental excision. MDs usually respond to dilatation or may require endoscopic excision. Segmental stenosis can occur as an isolated lesion or in association with esophageal atresia or stenosis due to a MD. Based on this observation, a classification of CES is proposed.

Malignant transformation of mesenchymal hamartoma of the liver: case report and review of the literature.

Here the first case in the literature of both mesenchymal hamartoma and malignant mesenchymoma occurring in a 6-year-old male child, at different times and at different sites in the liver, and also the possible malignant transformation of a mesenchymal hamartoma is reported. The tumor developed from a lesion in the right lobe that was overlooked initially during a left lateral segmentectomy at 18 months of age for a mesenchymal hamartoma. Malignant mesenchymoma is a rare and aggressive tumor. The origin of this tumor is not well understood. There has been no direct support to the hypothesis that malignant mesenchymoma may be the malignant counterpart of mesenchymal hamartoma. The authors provide clinical and histopathologic evidence in our case that suggests the possibility of malignant mesenchymoma arising from a mesenchymal hamartoma. This case emphasizes the need for complete removal of mesenchymal hamartoma and the need for long-term follow-up to detect multifocal lesion or malignant transformation.

Management of Hirschsprung's disease with reference to one-stage pull-through without colostomy.

BACKGROUND/PURPOSE: The authors evaluated the safety and benefits of 1-stage pull-through in comparison with staged repair of Hirschsprung's disease under circumstances prevailing in a developing country. METHODS: Forty-nine patients were treated for Hirschsprung's disease during a 7-year period between January 1991 and March 1998 at our institution, which is a tertiary referral center. Nine patients were excluded from the study, and the medical records of the remaining 40 patients were reviewed. RESULTS: Eighteen patients including 7 neonates underwent 1-stage pull-through, and 22 patients underwent staged correction. There was no mortality for patients undergoing one-stage treatment, but there was 1 death caused by anastamotic leak after a 2-stage repair. There was no substantial difference in the incidence of complications (38.8% v 45.45%) and the need for additional surgical procedures (33.5% v 45.45%) between the 2 groups. Seventy-one percent after 1-stage treatment and 80% after staged treatment had a satisfactory functional result, and the incidence of incontinence was 14% and 10%, respectively. Overall, the incidence of postoperative enterocolitis was low (7.5%). CONCLUSIONS: One-stage correction of Hirschsprung's disease is a safe procedure in all age groups. It offers economical and social advantages to families in developing countries. Benefits of 1-stage treatment include avoidance of multiple operations, elimination of complications associated with a colostomy, shorter duration of hospital stay, and completion of treatment at an earlier age. It is advisable to continue postoperative anal dilatation for a minimum period of 6 months to 1 year to reduce the incidence of enterocolitis.

Meconium peritonitis: prenatal diagnosis and postnatal management--a case report.

The management of a case of antenatally diagnosed meconium peritonitis (MP) due to intrauterine intestinal perforation secondary to bowel atresia is reported. The literature is reviewed with reference to the significance and outcome of antenatally diagnosed MP.

Advantages and limitations of day surgery in children in a developing country.

Day surgery (DS) especially in children, has been widely accepted by surgeons, and the benefits to the patients, parents, and hospital have been well-established. It has become particularly popular among working parents and is accepted by hospital administrators. Proper case selection, preoperative assessment, and proper parent counselling, choice of anaesthesia, postoperative analgesia, and follow-up advice are essential for a successful outcome. This paper records our experience with 465 infants and children who underwent DS at Government Stanley Hospital and two semi-charitable trust hospitals in Madras during the years 1985-1986. The overall acceptance of the programme was excellent, with minimal complications and a fallout rate of 9.6%. The advantages of DS in our environment are discussed.

Duplication of the rectum: report of four cases and review of the literature.

Rectal duplications are rare anomalies. Recently, we observed four cases of rectal duplication, each presenting with different clinical features including chronic constipation, a prolapsing rectal "polyp, " a "growth" from the vulva, and acute retention of urine. The variety of clinical presentations may lead to delay in diagnosis and multiple operations.

Incomplete hypospadiac urethral duplication with posterior urethral valves.

Urethral duplication (UD) is an uncommon malformation. Obstruction rarely occurs in hypospadiac UD. We describe two children with incomplete hypospadiac UD in association with posterior urethral valves, a combination not previously recognised. The embryonic significance of this anomaly is discussed. Keywords Urethral duplication. Hypospadias. Posterior urethral valve. Megalourethra

Intraabdominal desmoplastic small round cell tumour in an 11-year-old boy.

A case of desmoplastic small round cell tumour (DSRCT) is presented. This aggressive and rare neoplasm predominantly affects males and is almost exclusively intraabdominal in location. It is unique in that neural, mesenchymal and epithelial markers are co-expressed. Despite multi-modal therapy, the prognosis is extremely poor. The present report details the clinical features and typical pathological findings of DSRCT in an 11-year-old boy, who succumbed to the disease 16 months after diagnosis despite multiple chemotherapeutic regimes.