Tayal Anshula, Elwadhi Aman, Sharma Suvasini, Patra Bijoy
Department of Pediatrics, Lady Hardinge Medical College, Kalawati Saran Children's Hospital, New Delhi, India.
J Pediatr Neurosci. 2020 Jan-Mar;15(1):57-59. doi: 10.4103/JPN.JPN_141_18. Epub 2020 Mar 18.
Menkes disease is an X-linked neurodegenerative disease caused by mutation in gene, which codes for copper-transporting ATPase. It usually presents in early infancy with neuro-regression, hypotonia, seizures, and kinky hair. Magnetic resonance imaging (MRI) of the brain shows cerebral atrophy, subdural effusions, and tortuous cerebral blood vessels.
We report the case of a 7-month-old boy who presented with global developmental delay, seizures, and increasing head size since 2 months of age and history of sibling death. He had macrocephaly, sparse, hypopigmented hair, seborrheic dermatitis of scalp, hypotonia, and brisk reflexes. Brain MRI was suggestive of megalencephalic leukodystrophy. Careful reexamination of films revealed tortuous blood vessels. Serum copper and ceruloplasmin levels were significantly reduced, leading to diagnosis of Menkes disease.
This case exemplifies a rare presentation of Menkes disease, simulating a leukodystrophy with macrocephaly. Tortuosity of cerebral blood vessels is an important finding, which can help in differentiating Menkes disease from white matter disorders.
门克斯病是一种X连锁神经退行性疾病，由编码铜转运ATP酶的基因突变引起。通常在婴儿早期出现神经功能倒退、肌张力减退、癫痫发作和卷发。脑部磁共振成像（MRI）显示脑萎缩、硬膜下积液和迂曲的脑血管。
我们报告了一名7个月大男孩的病例，该男孩自2个月大起出现全面发育迟缓、癫痫发作且头围不断增大，并有同胞死亡史。他有巨头畸形、头发稀疏、色素减退、头皮脂溢性皮炎、肌张力减退和反射亢进。脑部MRI提示巨脑性白质营养不良。对影像进行仔细复查发现有迂曲的血管。血清铜和铜蓝蛋白水平显著降低，从而诊断为门克斯病。
本病例体现了门克斯病的一种罕见表现，类似伴有巨头畸形的白质营养不良。脑血管迂曲是一项重要发现，有助于将门克斯病与白质疾病相鉴别。
