Gallbladder Volvulus: An Unusual Presentation.

BACKGROUND Gallbladder torsion is a rare entity of acute abdomen that can be fatal if not diagnosed and treated promptly. It presents in a multitude of ways but the most common is a presentation similar to acute cholecystitis. Diagnosis can be made clinically by abdominal ultrasound with Doppler flow, and treatment is detorsion with cholecystectomy. CASE REPORT A 57-year-old female presented to the emergency department with severe abdominal pain, bilious vomiting, and loose stools. An initial diagnosis of gastroenteritis was made, however, the patient did not respond to symptomatic treatment and continued having pain, nausea and vomiting. Abdominal ultrasound revealed signs of acute cholecystitis and the patient underwent an open cholecystectomy where the gallbladder was found to be black, gangrenous, and voluminous due to torsion. Detorsion and cholecystectomy were performed without any complications. CONCLUSIONS Gallbladder torsion is a rare entity of acute abdomen that can be fatal if not diagnosed and treated promptly. Gallbladder torsion should be a part of the differential diagnosis of any patient presenting with an acute abdomen and unusual symptoms of acute cholecystitis.

Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans.

PURPOSE: To describe the clinical findings and mutations in affected members of two families with an autosomal recessive retinal dystrophy associated with mutations in the protocadherin-21 (PCDH21) gene. METHODS: A full genome scan of members of two consanguineous families segregating an autosomal recessive retinal dystrophy was performed and regions identical by descent identified. Positional candidate genes were identified and sequenced. All patients had a detailed ophthalmic examination, including electroretinography and retinal imaging. RESULTS: Affected members of both families showed identical homozygosity for an overlapping region of chromosome 10q. Sequencing of a candidate gene, PCDH21, showed two separate homozygous single-base deletions, c.337delG (p.G113AfsX1) and c.1459delG (p.G487GfsX20), which were not detected in 282 control chromosomes. Affected members of the two families first reported nyctalopia in late teenage years and retained good central vision until their late 30s. No color vision was detected in any proband. The fundus appearance included the later development of characteristic circular patches of pigment epithelial atrophy at the macula and in the peripheral retina. CONCLUSIONS: Biallelic mutations in the photoreceptor-specific gene PCDH21 cause recessive retinal degeneration in humans.