Cases reported "Syndrome"

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1/59. endosonography in the diagnosis of "blue rubber bleb nevus syndrome": an uncommon cause of gastrointestinal tract bleeding.

    Blue rubber bleb nevus syndrome is a rare condition characterized by the presence of multiple angiomatic lesions of the skin. These are associated with similar lesions in other organs, namely in the gastrointestinal tract, causing anemia through chronic bleeding. We describe the case of a 72-year-old woman with microcytic anemia. A barium study revealed irregular lacunae in the distal esophagus. A subsequent endoscopy showed blue nodular lesions similar to angiomas of the esophagus and stomach fundus. endosonography confirmed its angiomatic nature. Exploration of other organs, using magnetic resonance and cranial computed tomography, did not reveal the presence of this type of lesion. In physical examination, two angiomatic lesions were observed on the face and lips, respectively. These were blue in color and compressible, leaving an empty wrinkled sac that rapidly refilled, typical of angiomas.
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2/59. Megacystis-microcolon-intestinal hypoperistalsis syndrome associated with megaesophagus.

    Megacystis-microcolon-intestinal hypoperistalsis syndrome is a rare congenital disorder characterized by megacystis and hypoperistalsis of the gastrointestinal tract. About 80 cases have been reported, predominantly in females. We present a female newborn with typical features of the syndrome associated with megaesophagus.
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3/59. Esophageal dysmotility in brothers with an FG-like syndrome.

    We present 4 brothers with developmental delay, minor anomalies, and symptoms due to gastrointestinal dysmotility. There was some resemblance with FG syndrome, although none of the brothers had sufficient findings to make this diagnosis. The index case presented with at age 1 month with screaming episodes, mild gastro-esophageal reflux (GER), and severe constipation. Esophageal manometry studies were consistent with the diagnosis of "nutcracker esophagus." Symptomatic and manometric improvement followed treatment with oral calcium channel blockers. Two older and less severely affected brothers had similar manometric findings but did not require treatment. A fourth brother with symptoms in infancy now has normal esophageal manometry findings. These boys in all likelihood have an X-linked syndrome with manifestations of FG syndrome, in which treatment with calcium channel blockers, produces clinical and manometric improvement. The FG syndrome is an X-linked syndrome of multiple congenital anomalies/mental retardation with facultative manifestations of gastrointestinal dysmotility, including gastro-esophageal reflux, severe feeding difficulties, and constipation. Esophageal dysmotility, in particular "nutcracker esophagus," should be suspected in infants with the FG syndrome and screaming attacks.
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4/59. Hypothenar hammer syndrome followed by systemic sclerosis.

    We describe the first case of bilateral hypothenar hammer syndrome (HHS) followed by systemic sclerosis (SSc) that was associated with silica exposure (Erasmus syndrome). The patient was a woman smoothing tiles in an earthenware factory who presented with bilateral digital ischemia associated with Raynaud's phenomenon. HHS was diagnosed, based on an angiographic study showing aneurysm of the ulnar arteries and occlusions of multiple digital arteries. Pulmonary silicosis was also diagnosed on pulmonary tomodensitometry. Two years later digital swelling with acroosteolysis developed. The FANA test was positive (titer 1:640) and anticentromere antibody tests were also positive. Esophageal manometry showed dysmotility of the lower esophagus. These findings were consistent with a diagnosis of SSc.
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5/59. Boerhaave-mimicking esophageal perforation with subsequent esophagobronchial fistula formation as the primary manifestation of Crohn's disease.

    BACKGROUND: Spontaneous ruptures of the esophagus are rare, but may lead to deleterious courses, even if diagnosed early. CASE REPORT: We report a case of Boerhaave's syndrome-mimicking esophageal perforation due to a stricture of the distal esophagus as the primary manifestation of Crohn's disease. diagnosis was delayed resulting in a complicated clinical course. The presented patient is the first case in the literature with esophageal perforation related to a previously undiagnosed Crohn's disease that lead to stenosis of the distal esophagus before becoming clinically apparent. CONCLUSION: Difficulties in differential diagnosis, problems related to initial misdiagnosis and consecutive mismanagment of spontaneous esophageal perforation, and treatment options including nonsurgical approaches are discussed.
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ranking = 1.5
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6/59. Quality-of-life study on four patients who underwent esophageal resection and delayed reconstruction for Boerhaave's syndrome.

    Boerhaave's syndrome is the condition of spontaneous rupture of the esophagus as a consequence of the strain of emesis with or without predisposing esophageal disease. It is a condition with high mortality. We describe four patients who underwent a transthoracic esophagectomy to remove the rupture of the intrathoracic esophagus, closure of the esophageal gastric junction, fashioning of a feeding gastrostomy, and formation of a left cervical esophagostomy. Three patients underwent reconstruction with subcutaneous colon. We suggest that this method of management may be considered where primary repair is impossible in those patients too ill for prolonged reconstruction or as a salvage procedure where other methods have failed. The poor quality of life after esophagectomy is improved by reconstruction. Other surgical options include covering the repaired opening with a circumferential wrap of pleura, chest wall muscle, or omentum or closing the repair around a T-tube of large caliber. Esophageal exclusion using absorbable staples is another approach.
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keywords = esophagus
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7/59. adenocarcinoma in a Barrett oesophagus.

    A case of adenocarcinoma developing at the squamocolumnar epithelial junction of a Barrett oesophagus is reported. This rare tumour was remarkable because of the youth of the patient and because of the signet-cell cytological pattern of the neoplasm. It is postulated that both the columnar epithelial lining of the lower part of the oesophagus and the malignant change are a consequence of long-standing oesophageal reflux.
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keywords = esophagus
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8/59. Boerhaave syndrome with atypical clinical presentations diagnosed by computed tomography.

    Spontaneous rupture of esophagus (Boerhaave syndrome) is a life-threatening emergency requiring immediate surgical management. The diagnosis is often delayed and results in high mortality and morbidity. Typical clinical presentations are postprandial vomiting and subsequent chest or back pain, which alert the clinicians to take chest film and esophagogram for diagnosis. We presented a case of Boerhaave syndrome with atypical presentation mimicking dissecting aortic aneurysm, which was diagnosed by computed tomography.
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9/59. Minimally invasive approach to Boerhaave's syndrome: a pilot study of three cases.

    BACKGROUND: Boerhaave's syndrome requires urgent thoracotomy, laparotomy, or both for esophageal repair and pleuromediastinal debridement. Minimally invasive techniques may be suitable alternatives. MATERIALS AND methods: Over a period of 12 months, three patients with spontaneous esophageal perforations after forceful vomiting were treated by a combination of minimally invasive techniques including laparoscopy, thoracoscopy, mediastinoscopy, and endoscopic stenting. RESULTS: Esophageal repair was performed transhiatally via laparoscopy using primary suture, primary suture reinforced by a fundic patch, and fundic patch alone in one patient each. One patient had a second perforation of the proximal esophagus, which was sutured through a cervical incision. This patient successfully underwent secondary endoscopic stenting for a persistent esophageal fistula. Mediastinal debridement was performed transhiatally and also by means of a mediastinoscope introduced via the cervical incision in one patient. One patient required secondary thoracoscopic debridement of a pleural empyema but died of sepsis after 1 month. The two other patients recovered and were discharged from the hospital after 2 and 8 weeks, respectively. CONCLUSIONS: Boerhaave's syndrome is amenable to minimally invasive techniques. Avoidance of a formal thoracotomy with its resulting morbidity could be of considerable benefit to these critically ill patients.
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keywords = esophagus
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10/59. fusariosis, myasthenic syndrome, and aplastic anemia.

    fusarium, a fungus, produces a potent mycotoxin that, when ingested with contaminated cereal grains, produces a serious illness in man called alimentary toxic aleukia (ussr) and Akakabi-byo (japan). The illness includes gastrointestinal symptoms and weakness and if ingestion of fusarium contaminated grain persists, culminates in aplastic anemia. A 66-year-old woman had Eaton-Lambert syndrome and a clinical course similar to alimentary toxic aleukia. Several months before her death, pancytopenia, initially thought guanidine-induced, developed and progressed to aplastic anemia despite discontinuation of guanidine 2 1/2 months before death. autopsy showed numerous granuloma in the liver, spleen, esophagus, and cecum from which fusarium oxysporum was isolated. Although the unique finding of systemic fusariosis may relate to altered host resistance terminally, a causal relationship with her defect of neuromuscular transmission and/or aplastic anemia is a distinct possibility.
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keywords = esophagus
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