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Chronic progressive external ophthalmoplegia with NADH-CoQ reductase deficiency: report of a case.

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A thirty-two year old female had chronic progressive external ophthalmoplegia (CPEO), exertional fatigue, dysarthria, dysphagia, and bilateral hearing impairment. Histochemical stains, obtained from the right vastus lateralis, showed ragged-red fibers and wide-spread abnormalities in the number,

Using fast eye movements to study fatigue in multiple sclerosis.

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OBJECTIVE To investigate whether internuclear ophthalmoparesis (INO) due to demyelination of the medial longitudinal fasciculus (MLF) provides a model for studying the poorly understood symptom of fatigue in multiple sclerosis (MS). We asked whether repetitive horizontal saccades increased eye

Patients with chronic fatigue syndrome performed worse than controls in a controlled repeated exercise study despite a normal oxidative phosphorylation capacity.

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BACKGROUND The aim of this study was to investigate the possibility that a decreased mitochondrial ATP synthesis causes muscular and mental fatigue and plays a role in the pathophysiology of the chronic fatigue syndrome (CFS/ME). METHODS Female patients (n = 15) and controls (n = 15) performed a

mtDNA nt3243 mutation, external ophthalmoplegia, and hypogonadism in an adolescent girl.

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A 14-year-old girl presented with a 3-month history of easy fatigue and exercise intolerance, especially when climbing stairs. She had a mild ptosis and mild limitation of upward gaze. Her puberty was delayed, and she manifested hypogonadotrophic hypogonadism. Serum lactic and pyruvic acids were

[Mitochondrial diseases; thinking beyond organ specialism necessary].

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Mitochondrial disorders are caused by a defect in intracellular energy production. In general, these are multi-system disorders, predominantly affecting organs with high energy requirements. Due to the fact that mitochondrial disorders are not as rare as is generally assumed, and due to the

Cavernous sinus syndrome as the initial presentation of childhood non-hodgkin lymphoma.

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A 10-year-old boy with unilateral ophthalmoplegia, ptosis, and proptosis underwent diagnostic examination. Symptoms of headache, nausea, dyspnea, fatigue, weakness, and loss of appetite began 14 days after the onset of ocular manifestations and 7 days before he was examined. Complete blood count

The sleep test for myasthenia gravis. A safe alternative to Tensilon.

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The diagnosis of myasthenia gravis is usually confirmed by a Tensilon test, which can be complicated by cholinergic side effects that include cardiopulmonary arrest. An alternative, the Sleep test, based on the characteristic of myasthenia that symptoms and signs worsen with fatigue and improve

Whipple's disease: multiple hospital admissions of a man with diarrhoea, fever and arthralgia.

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Whipple's disease is a rare chronic multi-systemic infectious disorder caused by the Gram-positive bacillus, Tropheryma whippelii. Infection may involve any organ in the body, and most commonly affects white men in the fourth to sixth decades of life. The most common presenting symptoms are

Therapeutic approach in a case of Pearson's syndrome.

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Mitochondrial cytopathy is a multisystemic disease that requires different pharmacological and specialist approaches; although most therapies are usually of scarce effectiveness. We describe a clinical management of a very young girl with Pearson's syndrome that developed the symptoms of

[Centronuclear myopathy with autosomal dominant inheritance(author's transl)].

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For the first time in Germany cases of a "centronuclear myopathy" are described in a 14-year-old boy and his 18-year-old sister. First symptoms in both patients appeared at 4 to 5 years of age with a "sleepy facial expression", clumsy gait and rapid fatigue. Within few years the disease progressed

Microscopic polyangiitis associated with thymic tumor: a case report and review of the literature.

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Thymic hyperplasia and thymic epithelial tumor (thymoma) have been associated with a variety of autoimmune diseases. Renal involvement has been reported in patients with thymoma. Minimal change disease and membranous nephropathy are frequently observed in glomerular lesions of thymoma

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

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BACKGROUND Mutations in the Twinkle (PEO1) gene are a recognized cause of autosomal dominant progressive external ophthalmoplegia (adPEO), resulting in the accumulation of multiple mitochondrial DNA (mtDNA) deletions and cytochrome c oxidase (COX)-deficient fibers in skeletal muscle secondary to a

[Two patients with mitochondrial respiratory chain disease].

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A 23-year-old woman and a 13-year-old boy were diagnosed with mitochondrial respiratory chain disease. The woman had muscle pain, fatigue and bilateral ophthalmoplegia--symptoms consistent with Kearns-Sayre syndrome. The boy had aspecific symptoms; eventually, reduced activity of complex 1 was found

Wernicke's encephalopathy that developed during the introduction period of peritoneal dialysis.

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A 43-year-old man was admitted with end-stage renal disease caused by IgA nephropathy, and was treated with maintenance peritoneal dialysis. The patient developed general fatigue and appetite loss, and his symptoms were gradually aggravated by depression. After approximately 2 months on dialysis,

A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report.

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BACKGROUND Congenital myasthenic syndromes (CMSs) occur as a result of genetic mutations that cause aberrations in structure and/or function of proteins involved in neuromuscular transmission. Acetylcholine receptor epsilon (ε) subunit (CHRNE) gene mutations account for about 30-50 % of genetically

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