Different clinical presentation in a patient with two novel pathogenic variants of the FBXL4 gene.

CONCLUSION: We detected two novel variants of the FBXL4 gene. To the best of our knowledge, this is the first case in the literature that presented with gastrointestinal bleeding as an encephalomyopathic form of mitochondrial DNA depletion syndromes and for whom ketogenic diet was initiated due to intractable epilepsy, which was not reported in previous cases.
PMID: 32779419 [PubMed - in process]

Source: The Turkish Journal of Pediatrics - August 14, 2020 Category: Pediatrics Authors: Köse E, Köse M, Edizer S, Akışın Z, Yılmaz ZB, Şahin A, Genel F Tags: Turk J Pediatr Source Type: research