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

Several cases of acute necrotizing encephalopathy (ANE) with influenza A (H1N1) have been reported to date. The prognosis of ANE associated with H1N1 is variable; some cases resulted in severe neurologic complication, whereas other cases were fatal. Reports mostly focused on the diagnosis of ANE with H1N1 infection, rather than functional recovery. We report a case of ANE with H1N1 infection in a 4-year-old Korean girl who rapidly developed fever, seizure, and altered mentality, as well as had neurologic sequelae of ataxia, intentional tremor, strabismus, and dysarthria. Brain magnetic resonance imaging showed lesions in the bilateral thalami, pons, and left basal ganglia. To our knowledge, this is the first report of ANE caused by H1N1 infection and its long-term functional recovery in Korea.
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PMID:Novel Influenza A (H1N1)-Associated Acute Necrotizing Encephalopathy: A Case Report. 2370 27

Meige syndrome is a relatively rare type of oral facial dystonia. The dominant symptoms involve involuntary eye blinking and chin thrusting. Some patients may experience excessive tongue protrusion, squinting, muddled speech, or uncontrollable contraction of the platysma muscle. A 44-year-old Japanese male was suffering from schizophrenia. The initial presentation of his psychosis consisted of auditory hallucinations, delusions of persecution, psychomotor excitement, loosening association, and restlessness. After being prescribed several antipsychotic drugs, risperidone was started and gradually increased to 4 mg/day. The above symptoms were relieved, particularly auditory hallucination and excitement were promptly improved. Persecutory delusion, however persisted, and deteriorated. At one year after the start of this risperidone regimen, he exhibited severe blepharospasm symptoms (increased rate of eye blinking, light sensitivity) and oromandibular symptoms (trismus, jaw pain, dysarthria). He was diagnosed with Meige syndrome. His antipsychotic drug was changed from risperidone to paliperidone. Two months after switching from risperidone to paliperidone, his eye blinking, light sensitivity, jaw pain, and trismus gradually improved, although the dysarthria persisted. Six months after starting paliperidone, his symptoms of Meige syndrome were completely remitted. He has been well without relapse at 12 mg/day of paliperidone. The case suggests that Meige syndrome is relieved by changing from risperidone to paliperidone. The precise mechanism of the relief remains, however, unknown.
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PMID:Marked Improvement of Meige Syndrome in a Japanese Male Patient with Schizophrenia After Switching from Risperidone to Paliperidone: A Case Report. 2762 71

Left ventricular hypertrabeculation/noncompaction is a myocardial abnormality of unknown etiology/pathogenesis, which is frequently associated with neuromuscular disorders or chromosomal defects. LVHT in association with a MYOT mutation has not been reported. The patient is a 72-year-old male with a history of strabismus in childhood, asymptomatic creatine-kinase elevation since age 42 years, slowly progressive lower limb weakness since age 60 years, slowly progressive dysarthria and dysphagia since age 62 years, and recurrent episodes of arthralgias and myalgias since age 71 years. He also had arterial hypertension, diverticulosis, hyperlipidemia, coronary heart disease, and a hiatal hernia with reflux esophagitis. Clinical exam revealed mild quadruparesis and proximal wasting of the legs. Whole exome sequencing revealed a known variant in the MYOT gene. Muscle biopsy, previously assessed as inclusion body myopathy, was compatible with the genotype after revision. Cardiologic work-up revealed a left anterior hemiblock, mild myocardial thickening, and noncompaction. This case shows that myotilinopathy may manifest as a multisystem disease, including noncompaction.
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PMID:Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T. 3250 53

Phosphatidylinositol Glycan Anchor Biosynthesis class H (PIGH) is an essential player in the glycosylphosphatidylinositol (GPI) synthesis, an anchor for numerous cell membrane-bound proteins. PIGH deficiency is a newly described and rare disorder associated with developmental delay, seizures and behavioral difficulties. Herein, we report three new unrelated families with two different bi-allelic PIGH variants, including one new variant p.(Arg163Trp) which seems associated with a more severe phenotype. The common clinical features in all affected individuals are developmental delay/intellectual disability and hypotonia. Variable clinical features include seizures, autism spectrum disorder, apraxia, severe language delay, dysarthria, feeding difficulties, facial dysmorphisms, microcephaly, strabismus, and musculoskeletal anomalies. The two siblings homozygous for the p.(Arg163Trp) variant have severe symptoms including profound psychomotor retardation, intractable seizures, multiple bone fractures, scoliosis, loss of independent ambulation, and delayed myelination on brain MRI. Serum iron levels were significantly elevated in one individual. All tested individuals with PIGH deficiency had normal alkaline phosphatase and CD16, a GPI-anchored protein (GPI-AP), was found to be decreased by 60% on granulocytes from one individual. This study expands the PIGH deficiency phenotype range toward the severe end of the spectrum with the identification of a novel pathogenic variant.
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PMID:PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations. 3315 47


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