Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

X-linked Charcot-Marie-Tooth disease (CMT 1X) is the second most common form of inherited demyelinating neuropathy. It is established that patients suffering from CMT 1X can have episodes of hemiparesis, paraparesis, quadriparesis, ataxia, aphasia, and dysarthria, which can be fully reversible, and 'trigger' factors for these episodes are usually febrile illness, high altitudes, hyperventilation, and physical activity. We describe a 22-year-old patient with a history of viral infection and sleep deprivation who presented to our department because of acute difficulty in walking and neurophysiological findings suggesting Guillain-Barre syndrome. The patient's phenotype was compatible with CMT disease and within hours he showed remarkable improvement of his muscle strength without receiving any medical treatment. Any other metabolic, infectious, vasculitic, hematological, paraneoplastic, or infiltrative cause of polyneuropathy was excluded with laboratory work-up. Diagnosis of CMT 1X was confirmed with repeated neurophysiological study and genetic testing of his and his mother's blood, demonstrating the Arg75Trp [CGG to TGG,(R75W)] mutation on exon2 of gap junction protein beta 1. CMT 1X should be considered in patients with a phenotype compatible with the disease, rapid improvement of their clinical manifestations, and neurophysiological findings consistent with a hereditary, demyelinating neuropathy.
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PMID:Charcot-Marie-Tooth Disease 1X Simulating Paraparetic Guillain-Barre Syndrome. 2909 25

A 20-year-old female presented to us with bibrachial diplegia and dysarthria. She had an earlier history of craniosynostosis, multiple cranial surgeries and recent meningitis followed by ventriculoperitoneal shunting. Her symptoms started with a cruciate paralysis followed by rapid descending quadriparesis. Imaging revealed a trapped fourth ventricle as the cause of her descending paralysis.
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PMID:Cruciate bibrachial diplegia due to an acutely trapped fourth ventricle. 3048 88

Cryptococcus is a cosmopolitan fungus with tropism for the nervous system and a higher prevalence of infection in immunosuppressed patients. Neurological compromise caused by this microorganism mainly debuts as a meningeal syndrome (headache, fever, neck stiffness) with predominant encephalic involvement. In this report we present the rare case of a non-HIV patient with flaccid paralysis and peripheral nerve involvement due to crytpococcal meningitis. This is a 53-years-old woman, with a past-medical history of diabetes, who presented with dysarthria, unilateral peripheral facial paralysis, asymmetric ascending quadriparesis, generalized hyporeflexia and urinary retention. Neuroimaging was initially reported as negative for vascular or demyelinating diseases. Electrophysiological studies were performed, and acute flaccid paralysis of undetermined etiology was defined as a temporal clinical diagnosis. Cerebrospinal fluid molecular analysis confirmed the presence of Cryptococcus neoformans var. gatti; posteriorly, antifungal treatment with amphotericin B and fluconazole was started. Polyneuroradiculopathy symptoms significantly improved over the in-hospital stay. In conclusion, spinal cord and peripheral nerve involvement by Cryptococcus is an infrequent cause of acute flaccid paralysis that should be considered in the differential diagnosis even in HIV-negative patients.
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PMID:Cryptococcal meningitis presenting as acute flaccid paralysis: A case report. 3135 98


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