Dias R P, Buchanan C R, Thomas N, Lim S, Solanki G, Connor S E J, Barrett T G, Kapoor R R
Department of Paediatric Endocrinology and Diabetes, Birmingham Children's Hospital, Birmingham, B4 6NH, UK.
Department of Child Health, King's College Hospital, London, SE5 9RS, UK.
Orphanet J Rare Dis. 2016 Feb 10;11:14. doi: 10.1186/s13023-016-0397-z.
Wolcott-Rallison Syndrome is the commonest cause of neonatal diabetes in consanguineous families. It is associated with liver dysfunction, epiphyseal dysplasia, and developmental delay. It is caused by mutations in eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3).We report 4 children with WRS and Os Odontoideum resulting in significant neurological compromise. This cervical spine abnormality has not previously been described in this syndrome. This additional evidence broadens the clinical spectrum of this syndrome and confirms the role of EIF2AK3 in skeletal development. Furthermore, Os Odontoideum needs to be actively screened for in WRS patients to prevent neurological and respiratory compromise.
沃尔科特-拉利森综合征是近亲家庭中新生儿糖尿病最常见的病因。它与肝功能障碍、骨骺发育异常和发育迟缓有关。它是由真核生物翻译起始因子2-α激酶3（EIF2AK3）突变引起的。我们报告了4例患有沃尔科特-拉利森综合征和齿状突缺如的儿童，这导致了严重的神经功能损害。这种颈椎异常此前在该综合征中尚未有描述。这一额外证据拓宽了该综合征的临床谱，并证实了EIF2AK3在骨骼发育中的作用。此外，需要对沃尔科特-拉利森综合征患者积极筛查齿状突缺如，以预防神经和呼吸功能损害。
