Avtor/Urednik		Zarate, Yuri A.; Vernon, Hilary J.; Bosanko, Katherine A.; Ramani, Praveen K.; Gokden, Murat; Writzl, Karin; Meznarič, Marija; Vipotnik-Vesnaver, Tina; Ramakrishnaiah, Raghu; Osredkar, Damjan
Naslov		Case report
Tip		članek
Vol. in št.		, št. Vol. 12
Leto izdaje		2021
Obseg		str. 1-6
ISSN		1664-8021 - Frontiers in genetics
Jezik		eng
Abstrakt		SATB2-associated syndrome (SAS) is an autosomal dominant neurogenetic multisystemic disorder. We describe two individuals with global developmental delay and hypotonia who underwent an extensive evaluation to rule out an underlying mitochondrial disorder before their eventual diagnosis of SAS. Although the strict application of the clinical mitochondrial disease score only led to the designationof "possible" mitochondrial disorder for these two individuals, other documented abnormalities included nonspecific neuroimaging findings on magnetic resonance imaging and magnetic resonance spectroscopy, decreased complex I activity on musclebiopsy for patient 2, and variation in the size and relative proportion of types of musclefibers in the muscle biopsies that were aligned with mitochondrial diseases. SAS should be in the differential diagnoses of mitochondrial disorders, and broad-spectrum diagnostic tests such as exome sequencing need to be considered early in the evaluation process of undiagnosed neurodevelopmental disorders.
Proste vsebinske oznake		SATB2 mitochondrial disease muscle biopsy SATB2 mitohondrijska bolezen mišična biopsija