Annals of Saudi medicine
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Annals of Saudi medicine · May 2014
Case ReportsGastric heterotopia of rectum in a child: a mimicker of solitary rectal ulcer syndrome.
Bleeding per rectum is an uncommon presentation in pediatric patients. Heterotopic gastric mucosa in the rectum is a rare cause of rectal bleeding. Here, we report a 3-year-old child with a bleeding rectal ulcer that was initially diagnosed and managed as a solitary rectal ulcer syndrome. ⋯ Pediatric surgeon excised the ulcer, and histopathological examination revealed a gastric fundic-type mucosa consistent with the diagnosis of gastric heterotopia of the rectum. Over the following 18 months, our patient had experienced no rectal bleeding and remained entirely asymptomatic. In conclusion, heterotopic gastric mucosa of the rectum should be considered in the differential diagnosis of a bleeding rectal ulcer.
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Annals of Saudi medicine · May 2014
Case ReportsClinical and molecular characterization of maturity onset-diabetes of the young caused by hepatocyte nuclear factor-4 alpha mutation: red flags for prediction of the diagnosis.
The prevalence of maturity-onset diabetes of the young (MODY) in Saudi population remains unknown, and data on molecular etiology of this condition is limited. Therefore, the present study was undertaken to elucidate clinical and molecular characteristics of a Saudi family with MODY 1. ⋯ This study alerts physicians to suspect MODY in patients who have a strongly positive family history of diabetes over a few generations with negative pancreatic antibodies and absence of ketoacidosis and obesity.
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Annals of Saudi medicine · May 2014
Case ReportsTry235Phe homozygous mutation of the steroid 5-a reductase type 2 (SRD5A2) gene in a Turkish patient.
Steroid 5-a reductase type 2 isoenzyme (SRD5A2) deficiency is a male-limited autosomal recessive disorder that results in decreased conversion of testosterone to dihydrotestosterone with various de.gree of incomplete virilization in affected 46, XY infants. No clear genotype-phenotype relationship has been reported till date; moreover, the same mutation can result in considerable heterogeneity in clinical manifestations. Of 6 documented cases with Try235Phe homozygous mutation of the SRD5A2 gene, 3 patients had predominantly female external genitalia whereas the other 3 had predominantly male phenotype. We report Try235Phe homozygous mutation of the SRD5A2 gene in a Turkish patient who was initially assigned as a girl because of the predominantly female appearance of the external genitalia.
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Annals of Saudi medicine · May 2014
Case ReportsKounis syndrome: acute inferior myocardial infarction with atroventricular node block due to ceftriaxone: a first reported case.
Cefriaxone is a third-generation cephalosporin that might rarely cause a severe allergic reaction. Acute cardiac emergencies are quite rare in the setting of drug allergies. Here, we report the first case of myocardial infarction and AV-block after intravenous cefriaxone administration.