MyMedR

Fulltext The importance of intraoperative evaluation in the management of anorectal atresia

Ramesh JC, Lu, Balasingh D, Qureshi A

Med J Malaysia, 2002 Sep;57(3):361-3.

We report a neonate with anorectal atresia in whom preoperative evaluation prior to definitive operation revealed a short gap atresia. However, bidigital evaluation at operation revealed a septal atresia that was easily perforated from below through the anus. Unnecessary division of the anorectal sphincter complex was thus avoided.

Matched MeSH terms: Anus, Imperforate/surgery*

Fulltext Anorectal anomalies in adult females corrected by posterior sagittal anorectoplasty

Thambidorai CR, Qureshi MA, Shukri J, Zulfiqar A

Med J Malaysia, 2005 Jun;60(2):226-8.

PMID: 16114166

Posterior sagittal anorectoplasty (PSARP) is preferred by most pediatric surgeon and intermediate types of anorectal anomalies (ARA) in infants. In this report, we describe two girls who presented in their late teens with ARA and were treated by PSARP. Prior to this report, only two adult females with congenital rectovaginal fistulae treated by PSARP have been reported. Megarectum is a feature in late presentation of ARA and requires rectal tapering during PSARP. The functional outcome in late presentation of ARA is discussed.

Matched MeSH terms: Anus, Imperforate/diagnosis; Anus, Imperforate/surgery*

Fulltext Congenital urethrocutaneous fistula: an interesting case

Roger, A.I., Rachel, Anne J.

Journal of Surgical Academia, 2014;4(2):45-47.

MyJurnal

A congenital urethrocutaneous fistula is a rare anomaly which was first described in 1962 by Gupta. Clinically, children present when their guardian is alarmed by either frequent urinary dribbling or unusual stream when they pass urine. This congenital anomaly can present in isolation or be accompanied by a chordee, hypospadia and anorectal malformations in a newborn. The surgical management will either be a primary repair of the fistula or converting it to a hypospadia before proceeding with a single or staged hypospadia repair. Surgical technique will depend on the local tissue factors and associated anomalies.

Matched MeSH terms: Anus, Imperforate

Fulltext Analgesic efficacy of transversus abdominis plane block in neonates and early infants for colostomy and reversal of colostomy

Chen CK, Teo SC, Phui VE, Saman MA

Agri, 2015;27(4):210-4.

PMID: 26860495 DOI: 10.5505/agri.2015.66487

The application of ultrasound-guided transversus abdominis plane (TAP) block in paediatric population is gaining popularity among anaesthetists. We present a case series of ultrasound-guided TAP block in ten neonate and infants undergoing colostomy and reversal of stoma. Classical TAP as described by Hebbard was carried out and a maximum dosage of 1ml/kg of 0.25% levobupivacaine was injected. Pain score was assessed using Neonatal Infant Pain Scale for 24 hours. In all patients, the block was successful with minimal hemodynamic changes intraoperatively and no additional systemic analgesia was needed intraoperative and immediate postoperatively. Ultrasound-guided TAP block has an important role in providing safe and effective analgesia for colostomy creation and reversal of stoma surgeries in paediatric population.

Matched MeSH terms: Anus, Imperforate/surgery

Urological anomalies and chronic kidney disease in children with anorectal malformations

Ganesan I, Rajah S

Pediatr Nephrol, 2012 Jul;27(7):1125-30.

PMID: 22382467 DOI: 10.1007/s00467-012-2128-6

BACKGROUND: This study aims to predict risk factors for urological anomalies in children with anorectal malformations (ARM) and describes the clinical features of patients who have developed chronic kidney disease.

METHODS: We retrospectively reviewed infants with ARM who received surgery and were followed at the Sabah Women and Children's Hospital, Malaysia, from 1986 to 2010.

RESULTS: One hundred and twenty-two children with anorectal malformations were studied, after excluding 24 children with incomplete data. Three factors were significant as predictors of the presence of a urological anomaly: high ARM lesion (OR 3.12, 95%CI 1.1-8.9), the presence of genital abnormality (OR 2.95, 95%CI 1.10-7.91) and cloacal anomaly in girls (OR 8.27, 95% CI 1.91-35.6). The most common anomalies were vesicoureteric reflux, single kidney and neurogenic bladder. Chronic kidney disease (CKD) was noted in 5.7%, in children who had recurrent urinary tract infections, neurogenic bladder or complex renal tract pathology; end-stage renal failure was seen in only 0.8% of children with ARM.

CONCLUSION: Urological anomalies were seen in 23% of patients, but the overall incidence of CKD and end-stage renal disease is low. Early identification of infants with ARM at risk of renal failure may be important for renal survival.

Matched MeSH terms: Anus, Imperforate/complications*

A bizarre case of accessory larynx in an infant with OEIS syndrome

Wong TL, Baki MM, Ishak S, See GB

Int J Pediatr Otorhinolaryngol, 2018 Nov;114:134-137.

PMID: 30262351 DOI: 10.1016/j.ijporl.2018.08.037

We report a bizarre case of accessory larynx in an infant with OEIS syndrome (omphalocele, cloacal exstrophy, imperforated anus & spinal defects). This is the first reported case in literature of a duplicate accessory larynx which is a mirror image of the true larynx. A congenital duplication of the larynx is a rare anomaly and can present in various forms. In this case, the infant presented with recurrent lung infection and inability to wean off oxygen. Scope revealed severe laryngomalacia in addition to the accessory larynx. Hence, supraglottoplasty was done with aim to resolve the lung and airway problem.

Matched MeSH terms: Anus, Imperforate/complications*

Fulltext Mutations in KIF27, GNAS and IFT140 genes in a patient with VACTERL association: a case report

Siti Aishah Sulaiman, Nor Azian Abdul Murad, Chow, Yock Ping, Zam Zureena Mohd Rani, Salwati Shuib, Dayang Anita A. Aziz, et al.

Asia-Pacific Journal of Molecular Medicine, 2018;8(2):1-10.

MyJurnal

VACTERL association is a rare genetic disorder involving at least three of the following congenital
malformations: vertebral defects (V), anal atresia (A), cardiac defects (C), trachea-oesophageal fistula with
or without oesophageal atresia (TE), renal anomalies (R) and limb abnormalities (L). Until now, the
aetiology of VACTERL association is unknown, particularly at the molecular level. Here, we performed
whole exome sequencing (WES) of an infant with VACTERL association. The patient was delivered
prematurely at 30 weeks and had 4/6 of the VACTERL malformations. Trio-WES analysis was performed
using Torrent Suite and ANNOVAR. Polymorphisms with an allele frequency of >0.01 were excluded, and
the remaining variants were filtered based on de novo mutations, autosomal recessive, X-linked and di-genic
inheritance traits. In this patient, no homozygous, compound heterozygous or X-linked mutations was
associated with VACTERL. However, we identified two heterozygous mutations; KIF27
(ENST00000297814: c.3004A> C:p.N1002H) and GNAS (ENST00000371098: c.205C>A:p.H69N) genes that
were inherited from her father and mother respectively. A de novo, IFT140 gene mutation
(ENST00000426508: c.683C>G:p.S228C) was also identified in this patient. The VACTERL phenotype in
this patient may due to heterozygous mutations affecting KIF27 and GNAS genes, inherited via autosomal
recessive trait. In addition, the IFT140 gene mutation may also be involved. These genes are known to be
directly or non-directly involved in the sonic hedgehog signalling that is known to be implicated in
VACTERL. This is the first report of these genetic mutations in association with VACTERL.

Matched MeSH terms: Anus, Imperforate

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