A Rare Case of Recurrent Pneumonia in Heterotaxy Syndrome, Polysplenia/Left Isomerism.

Heterotaxy syndrome (HS) or situs ambiguous refers to the abnormal arrangement of viscera across the body axis, and abnormalities arise depending on the isomerism of the right or left atrial appendage. The cause remains unexplained and is attributed to a combination of genetic mutations and environmental factors. It is a rare condition and may remain undiagnosed for a long time. In this report, we aim to highlight an unusual presentation and aggravation of an infection due to the underlying isomerism of the left atrial appendage. We discuss the case of a female patient who presented with symptoms of fever and cough. The patient underwent prolonged antibiotic treatment, and her recovery was slow. The presence of bilobed lungs, vertical left-bronchus, and polysplenia on CT scan explained the left-sided aspiration pneumonia. The hypofunctioning spleen (polysplenia) caused her to have a weak immunological response, necessitating prolonged antibiotic use. She was followed up over time and had a recurrence of pneumonia within a few months. The condition is associated with high morbidity and mortality, and the role of early diagnosis and reporting to prevent complications is paramount. The recurrent pneumonia observed in the patient also raises questions related to long-term antibiotic use and immunization in the case of polysplenia in this patient population.

16 Y/O Female with "Watermelon Stomach"?

Background. Gastric antral vascular ectasia (GAVE) also known as "watermelon stomach" (WS) is an uncommon cause of gastrointestinal (GI) blood loss. It typically presents in middle aged females. We are presenting a case of GAVE at an unusually early age with atypical symptoms. Case. A previously healthy 16 y/o Caucasian female presented to the ER with a one-month history of upper abdominal pain. Physical examination was benign except tenderness in the epigastric region. There were no significant findings on laboratory data. Upper endoscopy showed incidental findings of linear striae in the antrum indicative of GAVE but histology was equivocal. Discussion. GAVE is a poorly understood but treatable entity and an increasingly identifiable cause of chronic iron deficiency anemia or acute or occult upper GI bleeding. The pathophysiology of GAVE remains unclear. It is an endoscopic finding characterized by longitudinal columns of tortuous red ectatic vessels (watermelon stripes), pathognomonic for WS. Treatment options include endoscopic, pharmacologic, and surgical approaches. Failure to recognize GAVE can result in delayed treatment for years. Our patient with GAVE was unusually young and was diagnosed incidentally. Due to lack of anemia on laboratory examination we elected to monitor her clinically for any future development of anemia.

Autoimmunity against human tropomyosin isoforms in ulcerative colitis: localization of specific human tropomyosin isoforms in the intestine and extraintestinal organs.

BACKGROUND: Tropomyosins (TMs) are microfilament cytoskeletal proteins, and 5 major human TM isoforms (hTM1-5) are described. hTMs, particularly isoform 5 (hTM5), is capable of inducing autoantibodies and T-cell response in ulcerative colitis (UC). However, cellular localization of hTM isoforms in the colon and in extraintestinal organs commonly involved in UC is unknown. METHODS: Using isoform-specific monoclonal antibodies, we localized hTMs through immunoperoxidase assay in normal colon (n = 12), small intestine (n = 14), esophagus (n = 10), skin (n = 19), eye (n = 12), gallbladder (n = 16), liver, including bile duct at the porta hepatis (n = 4), lungs (n = 4), and pancreas (n = 4). RESULTS: There is intense expression of hTM5, but not other isoforms, in the epithelium of the colon, gallbladder, and skin. In the eye, hTM5 is expressed only in the nonpigmented ciliary epithelium. Although extrahepatic and interlobar large ductal biliary epithelium was positive, bile canaliculi at the portal tract are negative. The immunoreactivity in epithelial cells from these organs is diffuse cytoplasmic and along the periphery. In colon epithelium, there is intense expression along basolateral areas and luminal (apical) surface. In the small intestinal epithelium, however, hTM5 expression is weak and distinctly different than in the colon. hTM5 was not detected in the squamous epithelium of the esophagus, although it was strongly positive in the skin. hTM1, hTM2, and hTM3 are localized predominantly in smooth muscle of the intestine and blood vessel wall but not the epithelium. HTM4 is localized in the endothelial cells and basement membrane of the colonic epithelium. CONCLUSIONS: hTM5 is the predominant isoform in the epithelium of colon and extraintestinal organs commonly involved in UC. The unique expression of hTM5 may allow its interaction with effector immune cells involved in the immunopathogenesis of UC and its extraintestinal manifestations.

Isolation and sequencing of a novel tropomyosin isoform preferentially associated with colon cancer.

BACKGROUND & AIMS: Nonmuscle human tropomyosin (hTM) isoforms have distinct functions and may play important roles in various disease processes. METHODS: In an attempt to identify colon epithelial tropomyosin isoform, a complementary DNA library prepared from a human colon cancer cell line T84 was screened by an oligonucleotide probe complementary to messages of all known hTM isoforms. A novel clone called TC22 was obtained. The amino acid sequence of TC22 isoform is identical to isoform 5 (hTM5) apart from the C terminal domain, amino acids 222-247 coding the exon 9. RESULTS: Northern blot analysis showed that TC22 message is expressed in transformed epithelial cell lines and tumor tissues but not in normal epithelial cells. We developed a monoclonal antibody specific to TC22 isoform (TC22-4). By Western blot and immunoperoxidase assays, we analyzed 105 colonic specimens (fresh frozen and formalin fixed) from 96 patients with colon polyps (hyperplastic) or adenomas with or without dysplasia and cancer. Twenty-one of 22 (95%) of colon cancer specimens showed the presence of TC22, compared with only 1 of the 17 normal colon specimens and none of the 13 hyperplastic polyps (P < 0.0001). As assayed by immunoperoxidase staining, TC22 expression progressively increased in benign adenomatous polyps (35%) and polyps with mild and severe dysplasia (57% and 100%, respectively). CONCLUSIONS: We cloned and sequenced a novel hTM isoform, TC22, which is strongly associated with colonic neoplasia and carcinoma. TC22 may provide a useful biomarker for surveillance of colon cancer.