Left flank pain during pregnancy with an unpredictable etiology: think of nonhemorrhagic adrenal infarction.

Abdominal pain is the most presenting complaint during pregnancy with multiple etiologies. The diagnosis could be unpredictable. We present a case of 36-year-old pregnant woman gravida 10 para 7 abortus 2 at 36 + 5 weeks of gestation presenting twice for an increasing left abdominal pain, not relieved despite analgesics. She was delivered for severe oligohydramnios. After delivery, she was found to have a left adrenal infarction on computed tomography scan. She was found to have two mutations of the gene MTHFR 677CC. Our presented case should remind physicians to consider the presence of thromboembolic state during pregnancy. The diagnosis of adrenal infarction should be among the differentials of an ambiguous flank pain that is resilient to medical therapy. Diagnosis in a pregnant patient can be easily confirmed with MRI, after which anticoagulation should be started and the workup for hypercoagulable state investigated.

Laparoscopic antral resection with Billroth I reconstruction for a gastric glomus tumor.

INTRODUCTION: Gastric glomus tumors are fairly uncommon and mostly benign, with an estimated incidence of 1% of all GI soft tissue tumors. The most common GI site of involvement is the stomach, and in particular the antrum. Some cases have been discovered incidentally, but most are symptomatic presenting with GI bleeding, perforation or abdominal pain. Glomus tumors are submucosal tumors and hence mistaken with the more frequent gastrointestinal stromal tumors. PRESENTATION OF CASE: A 33-year-old woman presented with intermittent dull upper abdominal pain for two days. Abdominal computed tomography (CT) was performed showing a hyperdense mass in the antrum. Endoscopy and endoscopic ultrasound revealed a submucosal antral mass along the greater curvature, suspicious for a gastrointestinal (GI) stromal tumor (GIST), a laparoscopic antrectomy with Billroth I reconstruction was done. Pathological examination revealed that the mass was a gastric glomus tumor. DISCUSSION: The presented case report met all the usual standard criteria commonly used to identify glomus tumors, the uniqueness of the case lies in the occurrence of the glomus tumor in the stomach, first suspected as GIST, then confirmed as a gastric glomus tumor. The vast majority of glomus tumors of the GI tract have been described in the gastric antrum. They occur in adults of all ages with a significant female predominance (78%). CONCLUSION: This case may aid in improving the recognition and diagnosis of this rare entity and in differentiating it from more common GISTs and gastric carcinoids. A built up knowledge between physicians is extremely necessary to avoid common confusion in taking the right medical approach.

Phenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotype.

Genotype phenotype correlations in Wilson disease (WD) are best established in homozygous patients or in compound heterozygous patients carrying the same set of mutations. We determined the clinical phenotype of patients with WD carrying the c.2298_2299insC in Exon 8 (c.2299insC) or the p. Ala1003Thr missense substitution in Exon 13 mutations in the homozygous or compound heterozygous state. We investigated 76 members of a single large Lebanese family. Their genotypes were determined, and clinical assessments were carried out for affected subjects. We also performed a literature search retrieving the phenotypes of patients carrying the same mutations of our patients in the homozygous or compound heterozygous state. There were 7 consanguineous marriages in this family and the prevalence of WD was 8.9% and of carriers of ATP7B mutation 44.7%. WD was confirmed in 9 out of 76 subjects. All 9 had the c.2299insC mutation, 5 homozygous and 4-compound heterozygous with p. Ala1003Thr. Six of our patients had hepatic, 2 had neurologic and 1 had asymptomatic phenotype. Based on our data and a literature review, clear phenotypes were reported for 38 patients worldwide carrying the c.2299insC mutation. About 53% of those have hepatic and 29% have neurologic phenotype. Furthermore, there were 10 compound heterozygous patients carrying the p. Ala1003Thr mutation. Among those, 80% having c.2299insC as the second mutation had hepatic phenotype, and all others had neurologic phenotype. We hereby report an association between the c.2299insC mutation and hepatic phenotype and between the p. Ala1003Thr mutation and neurologic phenotype.

Complex rectal and anal canal injuries secondary to unusual blunt perineal trauma.

A 27-year-old woman sustained a trauma to her perineal area when she was ejected from a jet ski while riding on water at high speed. The patient presented to the emergency department with blood streaking from her anal canal. Imaging revealed pneumoperitoneum. Surgical intervention showed complex anal canal and rectal injuries. Primary repair of the injuries was performed. Postoperatively the patient did well and was followed up with no evidence of residual symptoms and with a continent anal sphincter.

Homozygous mutations in the conserved ATP hinge region of the Wilson disease gene: association with liver disease.

OBJECTIVE: To determine whether any correlation exists between the phenotype and genotype of 2 Lebanese families with members affected with Wilson disease (WD). BACKGROUND: WD is an autosomal-recessive disorder of copper transport with significant phenotypic diversity. Most patients are compound heterozygous making it difficult to establish a clear link between phenotype and genotype. STUDY: We investigated 14 members from 2 Lebanese families (H and Z) with 5 members affected with WD. Mutation analysis of the ATP7B gene, and clinical assessments were carried out for both families. We also performed a literature search retrieving reported phenotypes of all patients homozygous to mutations in any of the 21 exons of the ATP7B. RESULTS: Patients of the H and Z-families were found homozygous for the respective Asn1270Ser and Pro1273Leu mutations in the adenosine triphosphate (ATP) hinge region of exon 18. Of the healthy members, 6 were heterozygous and 3 had normal sequences. Clinically, 4 patients had liver cirrhosis and 1 had asymptomatic transaminitis. One of the patients also had neurologic symptoms. Screening the literature for patients homozygous for mutations in the ATP hinge region identified 25 patients including ours. The overall prevalence of the hepatic phenotype among patients homozygous for mutation in exon 18 was 80% and was significantly higher than those in exons 7, 14, and 21. CONCLUSIONS: We hereby report the association of liver disease with homozygous mutations in the conserved ATP hinge region of exon 18 of the ATP7B gene.