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)

Acute onset of encephalopathy is often due to infections or intoxications, but a high index of suspicion should exist for metabolic or autoimmune causes particularly in recurrent cases. A 6-year-old previously healthy Caucasian male presented with confusion and somnolence. He had several days of fever, myalgia, headaches, and rhinorrhea and was influenza-A positive. He was noted to have new urinary incontinence, inability to follow commands, and was responsive only to noxious stimuli. His neurological examination revealed bilateral ankle clonus. Laboratory results were significant for hypoglycemia and high anion gap metabolic acidosis. Cerebrospinal fluid was unremarkable and cultures remained negative. A magnetic resonance imaging (MRI) of the brain showed diffuse gray matter restricted diffusion. His presentation was attributed to acute influenza-A encephalitis. Four months later, he presented with emesis, abdominal pain, dehydration, and hypoglycemia. He subsequently developed dysarthria and confusion. A brain MRI was similar to his previous presentation. A repeat lumbar puncture was normal. A urine organic acid profile showed elevations of ketones and branched chain ketoacids, with mild elevations of N-acetylleucine and N-acetyl isoleucine. This pattern is consistent with maple syrup urine disease (MSUD). Genetic testing revealed that he is a heterozygote for 2 pathogenic variants in the BCKDHB gene (P200X and G278S), confirming MSUD. This case highlights the importance of broadening workup to include inborn errors of metabolism in cases of unexplained encephalopathy. Providers should be aware that diseases such as MSUD can occur in intermittent forms that may not be detected until early childhood.
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PMID:Recurrent Encephalopathy During Febrile Illnesses in a 6-Year-Old Boy. 3001 8

Objective Reversible splenial lesion syndrome (RESLES) is a clinical radiological syndrome characterized by a reversible lesion of the splenium of the corpus callosum with a decreased apparent diffusion coefficient (ADC) value. The clinical manifestations of RESLES are diverse. Methods Fifteen cases of adult RESLES patients (10 males and 5 females) were retrospectively selected from the radiology system using the key word "corpus callosum" at a university-affiliated tertiary care hospital between May 1, 2015 and December 31, 2019. The possible precipitating factors, clinicoradiological findings and modified Rankin Scale (mRS) on follow-up were then analyzed. Results The patient ages ranged from 22 to 53 years old. The mean age was 34 years old. The most common neurological symptoms included headache (3/15), dizziness (3/15), first onset of seizure (3/15), paroxysmal blurred vision (2/15), vertigo (2/15), amnesia (2/15), and confused consciousness without seizure (2/15), followed by drowsiness (1/15), paresthesia (1/15), dysmetria (1/15) and dysarthria (1/15). The precipitating factors included infection, seizure, anti-epileptic treatment with levetiracetam, carbamazepine, valproate, hyperglycemia, hypoglycemia, cerebral venous sinus thrombosis, and rabies vaccine injection prior to the onset of RESLES. All cases were carefully followed up and had excellent prognoses. Conclusion RESLES manifests as variety of symptoms with less specificity and precipitating factors. Paroxysmal blurred vision may be a relatively specific symptom of RESLES. Levetiracetam, carbamazepine or valproate could be the cause of RESLES, exposure to the rabies vaccine could be another predisposing factors for RESLES as well. RESLES type 1 was therefore found to be highly "reversible" with an excellent prognosis.
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PMID:Reversible Splenial Lesion Syndrome with Some Novel Causes and Clinical Manifestations. 3261 57


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