Mitochondrial myopathy with atypical subacute presentation

Mitochondrial myopathy with atypical subacute presentation.

Atypical presentation of subacute thyroiditis.

Subacute thyroiditis is extremely rare during the first decade of life. We describe a case of subacute thyroiditis in a 2 year old child whose initial clinical, sonographic, and radioisotopic features were indistinguishable from acute suppurative thyroiditis. The diagnosis was established by a raised antibody titre against adenovirus and typical increased thyroid function tests.

An atypical subacute presentation of posterior reversible encephalopathy syndrome

Posterior reversible encephalopathy syndrome (PRES) characteristically presents with rapid onset of headache, seizure, encephalopathy, and visual changes, along with evidence of parieto-occipital vasogenic edema on magnetic resonance imaging. We describe the case of a 41-year-old female with a protracted presentation of two of the four classic PRES symptoms, which were not immediately recognize...

An Atypical Presentation of Subacute Encephalopathy with Seizures in Chronic Alcoholism Syndrome

Subacute encephalopathy with seizures in chronic alcoholism syndrome is a rare clinical manifestation in patients with chronic alcohol abuse. We report the case of a patient with chronic alcoholism who presented with partial nonconvulsive status epilepticus associated with a thalamic lesion.

Familial visceral myopathy associated with a mitochondrial myopathy.

A 27 year old man with intestinal pseudo-obstruction who developed parenteral nutrition induced hyperlipidaemia and who also had ophthalmoplegia and an undifferentiated myopathy is described. Histological examination of biopsy specimens and molecular analysis show that this patient had both familial visceral myopathy and a mitochondrial myopathy, suggesting that a mitochondrial DNA mutation is ...