No abstract

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.

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.

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.

The 2-year survival with native liver following corrective surgery for BA in UMMC, Malaysia, compares favourably with other international figures, but the overall survival rate was adversely affected by a lack of timely LT. The outcome of BA in Malaysia may be further improved by increasing the awareness among child-health professionals on the importance early referral for appropriate surgery in infants suspected of having BA.