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- Title
NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy.
- Authors
Lipiński, Patryk; Greczan, Milena; Piekutowska-Abramczuk, Dorota; Jurkiewicz, Elżbieta; Bakuła, Agnieszka; Socha, Piotr; Jankowska, Irena; Rokicki, Dariusz; Tylki-Szymańska, Anna
- Abstract
Biallelic pathogenic variants in the neuroblastoma amplified sequence (NBAS) gene were firstly (2015) identified as a cause of fever-triggered recurrent acute liver failure (RALF). Since then, some patients with NBAS deficiency presenting with neurologic features, including a motor delay, intellectual disability, muscular hypotonia and a mild brain atrophy, have been reported. Here, we describe a case of pediatric patient diagnosed with NBAS deficiency due to a homozygous c.2809C > G, p.(Pro937Ala) variant presenting with RALF with severe hyperammonemia, acquired microcephaly and progressive brain atrophy. Not reported in the literature findings include severe hyperammonemia during ALF episode, and neurologic features in the form of acquired progressive microcephaly with brain atrophy. The latter raises the hypothesis about a primary neurologic phenotype in NBAS deficiency.
- Subjects
CEREBRAL atrophy; LIVER failure; CHILD patients; MICROCEPHALY; HYPERAMMONEMIA; BRAIN abscess
- Publication
Metabolic Brain Disease, 2021, Vol 36, Issue 7, p2169
- ISSN
0885-7490
- Publication type
Article
- DOI
10.1007/s11011-021-00827-z