Wishbone sign in GM1 type III gangliosidosis Agarwal, Ayush; Garg, Divyani; Rajan, Roopa ...
Annals of the Indian Academy of Neurology,
07/2023, Letnik:
26, Številka:
4
Journal Article
Katz-Wachtel phenomenon is an electrocardiogram (ECG) sign demonstrating large equiphasic precordial QRS complexes indicative of biventricular hypertrophy. This sign is most commonly seen in children ...with congenital heart disease and is rarely described in adults. We report a case where this ECG sign was noted in an adult with dilated cardiomyopathy and discuss the possible mechanisms for this unusual finding.
4 Exome sequencing studies identified multiple causative mutations in the sacsin molecular chaperone gene (SACS) on chromosome 13q. Genetic testing for Friedreich's ataxia and Spinocerebellar ataxia ...was negative. 2D-Echocardiography, serum albumin, lipid profile, and alpha fetoprotein were normal. Clinical exome (targeted SACS gene) sequencing revealed a heterozygous pathogenic non-sense mutation on exon 10 of SACS gene (C,4232T > G) resulting in a stop codon and premature truncation of the protein.
Glutaric aciduria type 1 is an autosomal recessive disorder caused by mutations in GCDH gene on chromosome 19 leading to the deficiency of glutaryl-CoA dehydrogenase which causes an abnormal ...metabolism of lysine, hydroxylysine and tryptophan with resultant accumulation of glutaric acid and 3-hydroxy glutaric acid. Usual presentations include macrocephaly with recurrent dystonic episodes, along with developmental regression. The diagnosis is based on characteristic magnetic resonance imaging finding of widening of sylvian fissures and urinary tandem mass spectroscopic analysis of excess glutarylcarnitine and hydroxyglutaric acid. Management includes lysine-free diet and carnitine supplementation.
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