Two unusual clinical presentations of the mitochondrial DNA A3243G point mutation in adult neurological practice.
نویسندگان
چکیده
منابع مشابه
Unusual presentations of patients with the mitochondrial MERRF mutation A8344G.
MERRF is typically characterized by myoclonus, generalized seizures and ragged-red fibers in muscular biopsy. We report a family (harbouring the A8344G mutation) with a late onset of the disease and an uncommon clinical manifestation, including episodes of reversible respiratory failure, the presence of ophthalmoplegia, and the absence of seizures and myoclonus in most subjects. We conducted hi...
متن کاملUnusual Presentations of Cutaneous Leishmaniasis in Two Iranian Patients
Leishmaniasis affects 1.5-2 million new cases in the world annually. Two major complications of cutaneous leishamaniasis include diffuse cutaneous leishamaniasis (DCL ) occurring in the setting of deficient cell mediated immunity, typically with HIV infection, and chronic cutaneous leishamaniasis (CCL ) developing in approximately 4% of L. tropica infections in Iran and Afghanistan which also m...
متن کاملCharacterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence
INTRODUCTION The mitochondrial DNA A3243G point mutation is associated with a wide variety of systemic manifestations including a macular dystrophy. The characteristics of fundus autofluorescence (AF) in these patients are distinctive and have not been previously described. METHODS A complete history and ophthalmic examination, including fundus photography and autofluorescence imaging, was pe...
متن کاملOccult ruptured spleen--two unusual clinical presentations.
Case reports of two patients with occult rupture of the spleen are presented. In one, blunt trauma appeared to involve only the neck and upper chest, resulting in two distinct tracheal injuries and no clinical indication of abdominal injury. On the 5th day after injury this patient strangulated an indirect inguinal hernia. At subsequent surgery, a ruptured spleen was also found. The second pati...
متن کاملLack of Association of Mitochondrial A3243G tRNALeu Mutation in Iranian Patients with Type 2 Diabetes
Many kinds of mutations in mitochondrial (mt) DNA have been reported to be related to the development of Diabetes Mellitus (DM), this type of diabetes has also been shown to be influenced by other genetic factors and/or environmental factors. Among them, tRNALeu(UUR) and its adjacent mtDNA NADH dehydrogenase subunit 1(ND1) region within the mt genome are linked to high susceptibility to DM. A p...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1997
ISSN: 0022-3050
DOI: 10.1136/jnnp.62.5.544