Long term follow-up in two siblings with Sengers syndrome: Case report.

Autor: Panicucci C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Via G. Gaslini, 5, I-16147, Genova, Italy., Schiaffino MC; Pediatric Clinic Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy., Nesti C; Molecular Medicine, IRCCS Stella Maris Foundation, Pisa, Italy., Derchi M; Cardiology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy., Trocchio G; Cardiology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy., Stagnaro N; Radiology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy., Priolo E; Ophthalmology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy., Zara F; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Department of Neurology, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy., Santorelli FM; Molecular Medicine, IRCCS Stella Maris Foundation, Pisa, Italy., Bruno C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Via G. Gaslini, 5, I-16147, Genova, Italy. claudiobruno@gaslini.org.; Department of Neurology, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy. claudiobruno@gaslini.org.
Jazyk: angličtina
Zdroj: Italian journal of pediatrics [Ital J Pediatr] 2022 Oct 17; Vol. 48 (1), pp. 180. Date of Electronic Publication: 2022 Oct 17.
DOI: 10.1186/s13052-022-01370-y
Abstrakt: Background: Sengers syndrome is characterized by congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy, and lactic acidosis associated with mutations in AGK gene. Clinical course ranges from a severe fatal neonatal form, to a more benign form allowing survival into adulthood, to an isolated form of congenital cataract. Thus far few reported cases have survived the second decade at their latest examination, and no natural history data are available for the disease.
Case Presentation: Here we provide a 20-year follow-up in two siblings with a benign form of Sengers syndrome, expanding the phenotypical spectrum of the disease by reporting a condition of ovarian agenesis.
Conclusion: To our knowledge, this report provides the first longitudinal data of Sengers syndrome patients.
(© 2022. The Author(s).)
Databáze: MEDLINE
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