Charcot marie tooth and esophageal disease

Endocarditis is a serious infectious disease of the endocardial surface of the heart, predominantly involving the heart valves, and it results from the colonization and proliferation of microorganisms within the bloodstream. The condition primarily affects individuals with underlying cardiac abnormalities or those who have undergone invasive procedures. Symptoms may include pyrexia, fatigue, arthralgia, and new cardiac murmur. We present a case of a young male patient who had recently undergone surgery and developed eustachian valve endocarditis (EVE), a condition scarcely described in the literature...

DHTKD1 is the E1 component of the 2-oxoadipate dehydrogenase complex, an enzyme involved in the catabolism of (hydroxy-)lysine and tryptophan. Mutations in DHTKD1 have been associated with 2-aminoadipic and 2-oxoadipic aciduria, Charcot-Marie-Tooth disease type 2Q and eosinophilic esophagitis, but the pathophysiology of these clinically distinct disorders remains elusive. Here we report the identification of adipoylphosphonic acid and tenatoprazole as DHTKD1 inhibitors using targeted and high throughput screening, respectively...

According to recent findings, the human 2-oxoglutarate dehydrogenase complex (hOGDHc) could be an important source of the reactive oxygen species in the mitochondria and could contribute to mitochondrial abnormalities associated with multiple neurodegenerative diseases, including Alzheimer's disease, Huntington disease, and Parkinson's disease. The human 2-oxoadipate dehydrogenase (hE1a) is a novel protein, which is encoded by the DHTKD1 gene. Both missence and nonsense mutations were identified in the DHTKD1 that lead to alpha-aminoadipic and alpha-oxoadipic aciduria, a metabolic disorder with a wide variety of the neurological abnormalities, and Charcot-Marie-Tooth disease type 2Q, an inherited neurological disorder affecting the peripheral nervous system...

The clinical and molecular data on triple A syndrome in two siblings (girl 3.5 years and boy 5.5 years at presentation) with early onset of neurological dysfunction are described. Both patients showed delayed developmental milestones and neurological dysfunctions (motor and sensory demyelinating neuropathy, marked hyperreflexia, calves hypothrophy, pes cavus, gait disturbance) in early childhood, when erroneously diagnosed with hereditary polyneuropathy, most likely Charcot-Marie-Tooth disease. After a severe adrenal crisis in the younger sister at the age of 3 years, the older brother aged 5...

Common complications associated with steroid therapy are well documented. We report a rare and fatal complication, in which oesophageal erosion secondary to the use of steroids was associated with pneumopericardium.

Many neurologic conditions can affect the striated muscle of the gastrointestinal tract, resulting in dysphagia. In this article, two patients with rare neurologic disorders are reported (Stiff-man syndrome and Charcot-Marie-Tooth syndrome). Both patients had pharyngeal dysphagia. In addition, there was evidence of smooth muscle involvement in other areas of the gastrointestinal tract, specifically abnormal esophageal motility and delayed gastric emptying. In the English literature, there are only two reports of Stiff-man syndrome and dysphagia, and there are no reports of Charcot-Marie-Tooth syndrome...

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No abstract text is available yet for this article.