Su Yajie, Zhang Hui, Wang Huijun, Wu Bingbing, Yang Jiao, Zhou Wenhao, Li Long
Department of Neonatology, Children's Hospital of Fudan University, Shanghai, China.
Department of Neonatology, Children's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, China.
Front Pediatr. 2021 Oct 1;9:713458. doi: 10.3389/fped.2021.713458. eCollection 2021.
MEGDEL syndrome and -associated syndrome (SAS) are both rare congenital disorders with poor prognoses caused by gene mutations. We present the case of a 2-day-old girl with an unexplained abnormal liver function, feeding problem, and dystonia. Using next-generation sequencing, we identified two novel mutations in and a mutation in . Now, she is 15 months old and has the characteristics of SAS, such as downslanting palpebral fissures and delayed primary dentition. Besides the typical phenotypes of MEGDEL syndrome, such as hypertonia, failure to thrive, deafness, and motor regression, she has progressive cholestasis and is prone to high serum lactate after rehabilitation training and hypoglycemia with low ketone under starving conditions. These phenotypes substantially differ from the transient liver function abnormalities and hypoglycemia reported in the literature.
