Department of Diagnostic Imaging, Institute of Mother and Child, Kasprzaka 17a, 01-211, Warsaw, Poland.
Department of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, Warsaw, Poland.
BMC Pediatr. 2021 Mar 27;21(1):146. doi: 10.1186/s12887-021-02603-5.
Most white matter diseases present on magnetic resonance imaging as focal or diffuse T2-hyperintensities. However, in a few of them, radially oriented stripes of low (relatively normal) signal intensity are observed within diffusely affected T2-hyperintense cerebral white matter and are called "tigroid pattern" in the literature. The fornix is a tiny white matter fibers bundle playing crucial role in cognitive functioning, easily overlooked on magnetic resonance imaging and not described in inborn errors of metabolism.
We present a case of glutaric aciduria type 1 with a follow-up of over nine years. The course of the disease is presented in three magnetic resonance scans at the age of 8 and 21 months, and 10 years, with diffusion restriction in the fornix in scan 1 and 2 and with tigroid pattern in scan 3. Despite appropriate diet and supplementation, injury of white matter progressed achieving diffuse stage with tigroid pattern. Psychological tests revealed deficits in patient's specific cognitive skills, most likely related to damage to the fornix.
To our knowledge, this is the first report of tigroid pattern of white matter involvement in glutaric aciduria type 1 and the first report of forniceal injury in this disease which seems to be correlated with patient's low functioning in all kinds of memory skills, previously not reported in glutaric aciduria type 1.
大多数脑白质疾病在磁共振成像上表现为局灶性或弥漫性 T2 高信号。然而，在其中一些疾病中，弥漫性 T2 高信号脑白质内可见到呈放射状排列的低信号强度条纹，在文献中称为“虎纹状模式”。穹窿是一种微小的白质纤维束，在认知功能中起着至关重要的作用，在磁共振成像上容易被忽视，并且在代谢性疾病中没有描述。
我们报告了一例 1 型戊二酸尿症的病例，随访时间超过 9 年。疾病的病程在 8 个月、21 个月和 10 岁时的 3 次磁共振扫描中呈现，在扫描 1 和 2 中存在穹窿的弥散受限，扫描 3 中存在虎纹状模式。尽管进行了适当的饮食和补充治疗，白质损伤仍在进展，达到弥漫性阶段并出现虎纹状模式。心理测试显示患者存在特定认知技能的缺陷，这很可能与穹窿损伤有关。
据我们所知，这是首例 1 型戊二酸尿症脑白质虎纹状模式受累的报告，也是首例该疾病穹窿损伤的报告，与患者在各种记忆技能方面的功能低下有关，而这在 1 型戊二酸尿症中以前没有报道过。
