Ehlers-Danlos syndrome type IV with gastric adenocarcinoma.

BACKGROUND: Ehlers-Danlos syndrome has many subtypes. The vascular type (type IV) is characterized by thin, translucent skin, easy bruising, characteristic facial appearance, and arterial, intestinal, and/or uterine fragility. OBJECTIVES: To encourage a better understanding of vascular EDS as a basis for early diagnosis, prevention, and management of complications. A first case of EDS type IV with adeno-carcinoma of the stomach in Thailand was reported and literature was reviewed. RESULT: A 62-year-old Thai priest was admitted in Priest Hospital because of progressive muscle weakness of both legs with neurogenic claudication from compression fracture of L1-2. Abdominal aortic aneurysm were detected with upper gastrointestinal hemorrhage, esophagogastroduodenoscopy showed diffuse gastric body swelling and erythema resulting in chronic gastritis. Gastric biopsy was indicative of adenocarcinoma of the stomach and gastrectomy was done. Dermatologists were consulted due to generalized cutaneous pain, easy bruising following venepuncture, and EKG padding. A vascular EDS type IV was diagnosed. CONCLUSION: After gastrectomy, the patient became drowsy and unconscious from profuse recurrent cerebral hemorrhage and expired.

Plasma homocysteine and ischemic stroke patients in Thailand.

BACKGROUND: Hyperhomocysteinemia was recently found to be a risk factor for stroke; however, the available data from Thailand is scarce. OBJECTIVE: To study plasma homocysteine levels in ischemic stroke and compare it with age-and sex-matched controls, and to identify the association of plasma homocysteine and subtype of stroke. MATERIAL AND METHOD: The authors studied plasma homocysteine levels of ischemic stroke patients with clinical signs and symptoms of stroke as confirmed by CT scan and compared them with control subjects who presented with other diseases and no clinical signs and symptoms of stroke between June 2000- May 2001 in Prasat Neurological institute. Fasting plasma homocysteine was measured by HPLC technique. Abnormal cut off point of plasma homocysteine was identified and associations of plasma homocysteine and stroke were studied by using logistic regression analyses. RESULTS: Two hundred and sixty-eight patients were recruited in the present study (132 controls and 136 ischemic stroke patients). The abnormal cut off point of plasma homocysteine was > 14 micromol/L. The authors found statically significant association of abnormal plasma homocysteine and stroke (p<0.001) with odds ratio of 4.277 (95%CI 2.551-7.171). After adjusting the confounding factor the authors found that high homocysteine was significantly associated with ischemic stroke (p<0.001) with odd ratio of 3.401 (95%CI 1.954-5.922). In the subgroup analyses of type of stroke and abnormal homocysteine, the authors demonstrated that abnormal homocysteine levels were more pronounced in the large vessel subtype than the small group. CONCLUSION: Abnormal homocysteine level is an independent risk factor of ischemic stroke and more correlated with large vessel subtype.

Oculopharyngodistal myopathy in a Thai family.

There has been controversy whether oculopharyngodistal myopathy (OPDM) commonly seen in Japan is a distinct disease entity or a variant of oculopharyngeal muscular dystrophy (OPMD) initially described in French-Canadians and has since been reported in other ethnic groups. Both diseases have autosomal dominant inheritance and OPDM patients are clinically similar to OPMD with slowly progressive ptosis, ophthalmoplegia and dysphagia except that most of the former usually have distal as opposed to proximal weakness and most of them are genetically different from the latter The authors report here 2 siblings with clinical features of OPDM. This entity is rare outside Japan and this is the first family to be reported from Thailand