Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two young females with severe morbid obesity presented with Wernicke's syndrome after Roux-en-Y gastro-jejunum bypass had been performed. The first patient had recurrent vomiting and dyplopia two months post-surgery. Physical examination indicated bilateral ophthalmoparesia with conserved convergence and ataxia. The second patient had frequent vomiting episodes over the previous three months together with lower limb hypotonia, myoclonia and generalised tonicoclonic seizures on two occasions within one year of surgery. In both cases routine blood test, ion levels (sodium, potassium, calcium, phosphates), electroencephalogram and CT scan were normal. Thiamine therapy was instigated on the basis of clinical intuition and the first patient achieved complete remission within 24 hours while the second improved gradually in that two years later only mild lower limb hypotonia and a slight cognitive deficit remains. Erythrocyte transketolase activity determinations were abnormal on two separate occasions for this second patient. Vitamin B1 determinations were not available for the first patient. In conclusion, the restriction in energy intake and the persistent vomiting together with malabsorption induced by the surgical intervention could explain the vitamin deficiency causing Wernicke's encephalopathy. This indicates a need for close monitoring and systematic vitamin supplementation in those patients who undergo bariatric surgery.
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PMID:Wernicke's syndrome after bariatric surgery. 1103 Oct 78

We identified six patients presenting with a strikingly similar clinical phenotype of profound syndromic intellectual disability of unknown etiology. All patients lived in the same village. Extensive genealogical work revealed that the healthy parents of the patients were all distantly related to a common ancestor from the 17th century, suggesting autosomal recessive inheritance. In addition to intellectual disability, the clinical features included hypotonia, strabismus, difficulty to fix the eyes to an object, planovalgus in the feet, mild contractures in elbow joints, interphalangeal joint hypermobility and coarse facial features that develop gradually during childhood. The clinical phenotype did not fit any known syndrome. Genome-wide SNP genotyping of the patients and genetic mapping revealed the longest shared homozygosity at 3p22.1-3p21.1 encompassing 11.5 Mb, with no other credible candidate loci emerging. Single point parametric linkage analysis showed logarithm of the odds score of 11 for the homozygous region, thus identifying a novel intellectual disability predisposition locus. Whole-genome sequencing of one affected individual pinpointed three genes with potentially protein damaging homozygous sequence changes within the predisposition locus: transketolase (TKT), prolyl 4-hydroxylase transmembrane (P4HTM), and ubiquitin specific peptidase 4 (USP4). The changes were found in heterozygous form with 0.3-0.7% allele frequencies in 402 whole-genome sequenced controls from the north-east of Finland. No homozygotes were found in this nor additional control data sets. Our study facilitates clinical and molecular diagnosis of patients with this novel autosomal recessive intellectual disability syndrome. However, further studies are needed to unambiguously identify the underlying genetic defect.
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PMID:Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome. 2507 63