Pattern of Anorectal malformations in Gzira National Center for Pediatric Surgery (GNCPS)

Background: Anorectal malformations (ARM) are one of the common clinically and socially demanding problems in the world especially in the poorly resourced countries. Patients and Methods: It is a cross-sectional descriptive hospital based study, in the period from June 2009 to December 2011 of 80 patients of ARM in Gezira National Center for Pediatric Surgery (GNCPS). History and examination in addition to invertogram and distal loopogram were the tools of assessment. Results: Eighty children with ARM were studied, 64 males and 16 females. Sixty six patients have delayed presentation. More than 61% presented from rural areas. Twenty-one (26%) patients had one or more associated congenital anomalies, with cardiac and limb anomalies being the most common associated malformation. High anomaly was found in 48.75% of patients, intermediate type was found in 5%, while 43.75% of patients had low anomaly. Conclusion: Delayed presentation entails suboptimal training of midwives and resident doctors in obstetric hospitals and nurseries to evaluate congenital defects in the newborn

Esophageal perforation following foreign body ingestion in children: report of three cases

We report three cases of foreign body esophagus, in two of them the foreign body was a coin, and the third child ingested a disc battery. In all three cases the foreign body was impacted in the mid esophagus. All were initially  evaluated by chest X ray which confirmed the diagnosis.One underwent flexible endoscopic extraction initially followed by rigid esophagoscope later and in the other two extractions was performed using rigid esophagoscope, two of them ended with perforation of the esophagus and treated  conservatively with only chest tube insertion and supportive management.In the third child who ingested a disc battery, esophagoscopy revealed  necrosis and perforation at the site of impaction with formation of trachea-esophageal fistula, extraction was performed but the fistula necessitated surgical closure which failed and therefore underwent stent placement to end with complete cure.Keywords: Foreign body; esophageal perforation; children; rigid endoscope

Cutaneous Myiasis: report of two cases

No abstract available Sud J Dermatol Vol.3(1) 2005: 48-5

Obstructive Uropathy in Sudanese Patients

In this paper we describe the causes, patterns of presentation, and management of obstructive uropathy in Sudanese patients in a retrospective multi-center audit. All patients who presented with obstructive uropathy during 2005 were included in this study. All of the patients were subjected to serial investigations including imaging and tests of renal function. Diversion, stenting, and/or definitive surgery were performed in order to relieve the obstruction. Five hundred twenty patients were diagnosed with obstructive uropathy during this period; 345 (66%) patients presented with chronic obstruction and 175 (34%) with acute obstruction. Of the study patients, 210 (40%) presented with significant renal impairment; 50 (23%) of them required emergent dialysis. The patterns of clinical presentation of the obstructed patients included pain at the site of obstruction in 48%, lower urinary tract symptoms in 42%, urine retention in 36.5%, mass effect in 22%, and anuria in 4%. Patients in the pediatric age group constituted 4% of the total. The common causative factors of obstruction included congenital urethral valves, pelvi-ureteral junction obstruction, urolithiasis, and iatrogenic trauma, especially in the obstetric practice. Renal function was completely recovered with early management in 100% of patients with acute obstruction and was stabilized in 90% of patients with chronic obstruction. Four patients were diagnosed with end-stage renal failure; two of them were transplanted. The mortality rate in this study was less than 0.3%

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

PURPOSE: SRRM2 encodes the SRm300 protein, a splicing factor of the SR-related protein family characterized by its serine- and arginine-enriched domains. It promotes interactions between messenger RNA and the spliceosome catalytic machinery. This gene, predicted to be highly intolerant to loss of function (LoF) and very conserved through evolution, has not been previously reported in constitutive human disease. METHODS: Among the 1000 probands studied with developmental delay and intellectual disability in our database, we found 2 patients with de novo LoF variants in SRRM2. Additional families were identified through GeneMatcher. RESULTS: Here, we report on 22 patients with LoF variants in SRRM2 and provide a description of the phenotype. Molecular analysis identified 12 frameshift variants, 8 nonsense variants, and 2 microdeletions of 66 kb and 270 kb. The patients presented with a mild developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight, and dysmorphic facial features. Intellectual disability was variable and mild when present. CONCLUSION: We established SRRM2 as a gene responsible for a rare neurodevelopmental disease