hypohidrosis/диарея

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Congenital dysautonomia with secretory diarrhea.

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A 1-year-old boy was evaluated because of failure-to-thrive and persistent diarrhea. His illness was characterized by autonomic dysfunction sharing some features of both familial dysautonomia and congenital sensory neuropathy with anhidrosis, but was consistent with neither diagnosis. The

[Idiopathic chronic dysautonomia: when should the diagnosis be made?].

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BACKGROUND Chronic autonomic disorders may complicate a wide range of conditions which can be divided into secondary, due to specific diseases, and primary, in which no cause has been determined. METHODS We report the case of a 43-year-old woman, who presented a chronic autonomic failure, which had

[Fabry's disease: diagnosis in the pediatric age group].

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OBJECTIVE Fabry's disease is the second most frequent alteration of glycosphingolipid lysosomal storage diseases (after Gaucher's disease). Typical symptomatology starts in the first decade of life. Neuropathic pain, gastrointestinal involvement with abdominal pain, vomiting and diarrhea and

Chronic sensory and autonomic neuropathy.

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A man with sensory neuropathy had evidence of autonomic failure: abnormal pupils, hypohidrosis, esophageal dilation, diarrhea, hypotension, orthostatic hypotension, sphincter disturbance, and impotence. Functional tests revealed abnormalities of both sympathetic and parasympathetic systems, mainly

[A case of idiopathic orthostatic hypotension with selective involvement of postganglionic noradrenergic neurons].

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A 44-year-old man had a 30-year history of orthostatic hypotension and diarrhea. One month before admission, he suddenly lost consciousness by defecation, and was hospitalized. He became alert within two days, but he could not sit up due to severe orthostatic hypotension. At that point, he was

Anderson-Fabry disease in children.

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Although clinical evidence of major organ damage is typical of adulthood, many of the signs and symptoms of Anderson Fabry Disease (AFD) occur frequently in childhood. The clinical phenotype of AFD in pediatric patients has been described in several studies which show a higher incidence and an

[Acute panautonomic neuropathy: a report of 4 cases].

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OBJECTIVE To explore the clinical manifestations, diagnosis, treatment and prognosis of acute panautonomic neuropathy (APN). METHODS We reviewed the history, clinical findings, electrophysiological characteristics, laboratory features of CSF and treatment of 4 patients with APN. RESULTS All these

A critical level of diabetic autonomic neuropathy.

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Diabetic autonomic neuropathy was expressed quantitatively using the coefficient of variation of R-R intervals (CVR-R) in ECG and its critical level where diabetics were plagued with various symptoms was investigated. The subjects were 58 diabetics under the age of 40 years. ECGs were recorded in

Type I familial amyloid polyneuropathy--report of a family in Taiwan.

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We report three cases of histologically verified systemic amyloidosis with polyneuropathy. Common to them were early onset progressive peripheral sensorimotor disturbance starting in the legs and prominent autonomic dysfunctions such as postural hypotension, anhidrosis, and loss of pupillary light

Bleeding gums: duloxetine may be the cause.

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Duloxetine is a newly introduced drug. It is being prescribed for the management of diabetic neuropathic pain and major depressive disorder. The most frequently observed adverse events with duloxetine are nausea, dry mouth and somnolence, constipation, diarrhea, decreased appetite, weight loss,

Fabry disease: case report with emphasis on enzyme replacement therapy and possible future therapeutic options.

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A 38-year-old male Caucasian with Fabry disease presented with angiokeratomas and tortuous conjunctival and retinal vessels. Additionally, the patient showed characteristic skin lesions of psoriasis and seborrheic dermatitis. His past medical history revealed anhidrosis, acral paresthesias,

[A case of acute cholinergic dysautonomia].

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A 52-year-old man with hypohidrosis and selective parasympathetic peripheral autonomic nerve disturbances of acute onset is described. In April 1991, he noted a feeling of dryness in the eyes and the oral cavity, disturbance of taste, difficulty in micturition and a feeling of dryness at the distal

Extremely Early Onset Transthyretin Familial Amyloid Polyneuropathy with a Leu55Pro Mutation: A Pediatric Case Report and Literature Review.

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Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a life-threatening autosomal dominant disease caused by the deposition of amyloid fibrils composed of TTR proteins. Symptoms of this disease include progressive sensorimotor neuropathy, cardiomyopathy, and involvement of other organs. We

Secondary amyloidosis with severe autonomic dysfunctions.

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A 46-year-old male underwent hemodialysis because of progressed glomerulo-nephritis. Since he suffered from severe diarrhea during the course of the illness, both gastric and colon biopsies were performed. Significant amyloid deposition was recognized in the submucosal layer of these specimen. This

[Clinical courses of two male siblings on hemodialysis for Fabry disease ].

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Fabry disease is an X-linked recessive disease resulting from a deficiency of the lysosomal hydrolase alpha-galactosidase A. In male patients with the classic hemizygous form, acroparesthesias, hypohidrosis, corneal opacities, and dysfunction of the heart, brain, and kidney are observed. Recently,

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