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目的总结ABCD1基因新突变导致肾上腺脑白质营养不良1例的临床、影像及病理特点。方法详细收集该患者家系成员的临床资料;先证者行左侧顶叶立体定向脑组织病理检查;先证者及其父母、弟弟行ABCD1基因筛查。结果先证者:(1)男性,11岁,少年起病,早期表现为进行性认知功能减退;本次卒中样发作起病,主要表现为突发喷射性呕吐伴低热,后出现言语含糊、右侧肢体偏瘫、头痛及视力下降。(2)血皮质醇降低,超长链脂肪酸增高。(3)头颅MRI示颞顶枕叶及胼胝体非对称性病灶,左侧为著。(4)左侧顶叶病变脑活检病理可见正常白质结构消失,髓鞘片状脱失,轴索大部分缺失及反应性星形细胞增生;小血管周围可见以T淋巴细胞浸润为主的淋巴套。(5)先证者ABCD1基因c.1493-1496del的核苷酸半合子变异,其母亲ABCD1基因c.1493-1496del的核苷酸杂合变异,其父亲和弟弟未发现ABCD1基因变异。结论 ABCD1基因c.1493-1496del新突变可导致肾上腺脑白质营养不良,该新发突变基因可能导致较独特的临床和影像学特征,病理特点表现为小血管周围淋巴套样炎细胞浸润及髓鞘片状脱失。
Objective To summarize the clinical, imaging and pathological features of 1 case of adrenoleukodystrophy caused by a new mutation of ABCD1 gene. Methods The clinical data of family members of this patient were collected in detail. The probands were stereotactic brain histopathological examination of left parietal lobe. The probands and their parents and younger brothers underwent ABCD1 gene screening. The results of probands: (1) male, 11 years old, juvenile onset, early manifestations of progressive cognitive decline; this onset of stroke-like onset, mainly for the sudden jet vomiting with fever, vague vague , Hemiplegia on the right limb, headache and decreased vision. (2) lower blood cortisol, ultra-long-chain fatty acids increased. (3) head MRI showed temporal top occipital lobe and corpus callosum asymmetric lesions, on the left. (4) The pathology of left parietal lobe lesions biopsy shows that the normal white matter structure disappears, the myelin sheath is absent, most of the axons are devoid and reactive astrocytic hyperplasia. The small blood vessels can be seen around the lymphocytes infiltrated with T lymphocytes set. (5) Nucleotide heterozygosity variation of c.1493-1496del in ABCD1 gene of the proband, nucleotide heterozygosity variation of c.1493-1496del in ABCD1 gene of mother, and no mutation in ABCD1 gene in father and brother. CONCLUSION: The novel c.1493-1496del mutation of ABCD1 gene can cause adrenoleukodystrophy. The novel mutation gene may cause more unique clinical and radiological features. The pathological features are the infiltration of lymphocytes around lymphocytes and myelin sheath Flake loss.