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[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

Autonomic hyperreflexia in pure progressive autonomic failure: a case report.

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A 60-year-old woman suffered from recurrent episodes of fever, hypertension, facial flushing, vomiting, stridor, slowly progressive symptoms of hypohidrosis, and orthostatic hypotension. The episodes were synchronous with elevated catecholamine concentration in plasma and urine. This is an example

[A case of acute polyradiculoneuropathy with autonomic disturbances following rubella infection].

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A 32-year-old man developed a rash on his body and extremities following acute fever of a few days duration, and also noticed pain and spontaneous tingling sensations in his lower extremities. Because severe pneumonia with dyspnea and low arterial blood oxygen concentration were found on

Clinico-pathophysiological features of acute autonomic and sensory neuropathy: a long-term follow-up study.

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We evaluated the clinico-pathophysiological features of three patients with acute autonomic and sensory neuropathy (AASN) who were followed for over 3 years. Signs of an autonomic disturbance including vomiting, anhidrosis, urinary disturbances, orthostatic hypotension and reduced coefficient of

Cavernous angioma after chemotherapy for desmoplastic/nodular medulloblastoma associated with anhidrotic ectodermal dysplasia.

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OBJECTIVE While cavernous angioma (CVA) after cranial irradiation has been documented, its development after high-dose chemotherapy with autologous peripheral blood stem cell transplantation (PBSCT) has not. We present a patient with desmoplastic/nodular medulloblastoma (DNMB) associated with

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

[Autonomic dysfunction in metabolic diseases].

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Among many metabolic disorders, porphyrias and Fabry disease are known to affect autonomic nervous system. In patients with acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria, autonomic symptoms such as abdominal pain, vomiting, hypertension and tachycardia are among

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

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