Casano Kelsey R, Ryan Maura E, Bicknese Alma R, Mithal Divakar S
Louisiana State University Health Sciences Center, School of Medicine, 3031 Magazine Street, Apt A, New Orleans, LA 70115, USA.
Northwestern University Feinberg School of Medicine, Department of Radiology, Chicago, IL, USA.
Radiol Case Rep. 2021 Jan 27;16(4):807-810. doi: 10.1016/j.radcr.2021.01.021. eCollection 2021 Apr.
3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a rare mitochondrial disorder of valine metabolism which may present with motor delay, hypotonia, ataxia, dystonia, seizures poor feeding, and organic aciduria. Neuroimaging findings include signal abnormalities of the deep gray matter, particularly the globus pallidi, and cerebral peduncles. We report a 15-month-old male patient with HIBCH deficiency who presented with paroxysmal tonic upgaze of infancy, motor delay, and hypotonia. MRI revealed characteristic bilateral, symmetric signal abnormalities in the basal ganglia and a mutation in HIBCH was confirmed with whole exome sequencing. HIBCH should be a consideration in patients with Leigh-like features, especially if neuroimaging changes primarily affect the globus pallidi. Recognition of this pattern may help guide targeted testing and expedite the diagnosis and treatment of this rare disease.
3-羟基异丁酰辅酶A水解酶（HIBCH）缺乏症是一种罕见的缬氨酸代谢线粒体疾病，可能表现为运动发育迟缓、肌张力减退、共济失调、肌张力障碍、癫痫、喂养困难和有机酸尿症。神经影像学检查结果包括深部灰质信号异常，尤其是苍白球和大脑脚。我们报告一名15个月大的HIBCH缺乏症男性患者，表现为婴儿期发作性强直性上视、运动发育迟缓及肌张力减退。MRI显示基底节区有特征性的双侧对称信号异常，全外显子测序证实HIBCH存在突变。对于具有Leigh样特征的患者，应考虑HIBCH缺乏症，尤其是神经影像学改变主要影响苍白球时。认识到这种模式可能有助于指导针对性检测，并加快这种罕见疾病的诊断和治疗。
