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1.
Intern Med ; 62(17): 2559-2564, 2023 Sep 01.
Article in English | MEDLINE | ID: mdl-36642517

ABSTRACT

Paralytic ileus as tuberculosis-immune reconstitution inflammatory syndrome (TB-IRIS) is extremely rare. We herein report a 44-year-old man with pulmonary and renal tuberculosis who developed paralytic ileus 14 days after starting antituberculosis therapy (ATT) despite an initial favorable response to ATT. Paralytic ileus was successfully managed with conservative care. He initially required hemodialysis because of obstructive uropathy due to renal tuberculosis, but he was able to withdraw from dialysis after placement of ureteral stents. TB-IRIS can affect organs other than the original sites of tuberculosis, and the combined use of steroids may be effective for its prevention and treatment.


Subject(s)
Antitubercular Agents , Immune Reconstitution Inflammatory Syndrome , Intestinal Pseudo-Obstruction , Tuberculosis, Pulmonary , Tuberculosis, Renal , Tuberculosis, Pulmonary/complications , Tuberculosis, Pulmonary/diagnostic imaging , Tuberculosis, Pulmonary/drug therapy , Tuberculosis, Renal/complications , Tuberculosis, Renal/diagnostic imaging , Tuberculosis, Renal/drug therapy , Humans , Intestinal Pseudo-Obstruction/diagnosis , Intestinal Pseudo-Obstruction/ethnology , Immune Reconstitution Inflammatory Syndrome/complications , Immune Reconstitution Inflammatory Syndrome/drug therapy , Male , Adult , Antitubercular Agents/therapeutic use , Tomography, X-Ray Computed
2.
J Neurol Sci ; 309(1-2): 131-5, 2011 Oct 15.
Article in English | MEDLINE | ID: mdl-21794876

ABSTRACT

BACKGROUND: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a distinctive autosomal recessive disorder with mitochondrial alterations due to mutations TYMP gene encoding thymidine phosphorylase. MATERIALS AND METHODS: Study of clinical and biochemical characteristics of a family with MNGIE. RESULTS: Index case was a 32 year old man presenting with recurrent vomiting, early satiety and progressive weight loss. He had ptosis, restricted eye movements, generalized muscle wasting, and absent tendon reflexes. Lactate levels were elevated in venous blood and CSF lactate. MRI brain showed diffuse leucoencephalopathy. Barium swallow showed near total obstruction at mid portion of vertical limb of duodenum with ileus. Esophageal manometry suggested myopathy. Muscle biopsy revealed moderate numbers of ragged blue and ragged red fibers as well as cytochrome c oxidase deficient fibers. An elder brother had similar symptoms and expired after a surgical procedure and a 28 year old brother has similar illness. The father had asymptomatic bilateral ptosis with mild ophthalmoparesis. The paternal grandfather and paternal aunt also had bilateral ptosis. Clinical diagnosis of MNGIE was confirmed in the two living brothers by demonstrating severe defects of thymidine phosphorylase activity in buffy coat, elevated thymidine and deoxyuridine in plasma, and a homozygous TYMP c.893G>A mutation. CONCLUSIONS: This family with biochemically and genetically confirmed mitochondrial neurogastrointestinal encephalopathy syndrome uncharacteristically included heterozygous TYMP mutation carriers manifesting extra-ocular weakness. It is important to identify MNGIE patients early because therapeutic options are emerging.


Subject(s)
Genetic Carrier Screening , Intestinal Pseudo-Obstruction/diagnosis , Intestinal Pseudo-Obstruction/genetics , Mitochondrial Encephalomyopathies/diagnosis , Mitochondrial Encephalomyopathies/genetics , Mutation/genetics , Thymidine Phosphorylase/genetics , Adult , Humans , India/ethnology , Intestinal Pseudo-Obstruction/ethnology , Male , Mitochondrial Encephalomyopathies/ethnology , Muscular Dystrophy, Oculopharyngeal , Ophthalmoplegia/congenital , Pedigree
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