Ghosh Sangita, Chaudhuri Soumik
PGIMS, Rohtak, Haryana, India.
Dermatol Online J. 2012 Nov 15;18(11):4.
Menkes kinky hair syndrome, also known as trichopoliodystrophy, is a rare X-linked recessive, progressive neurodegenerative disorder characterized clinically by progressive psychomotor impairment, treatment-refractory seizures, and hair shaft abnormalities, most commonly pilli torti. The condition is related to a mutation in a copper transporting gene, located in the X-chromosome, resulting in deficiency of copper dependent enzymes. The diagnosis can be confirmed by a low plasma level of copper and ceruloplasmin. The prognosis of classical Menkes disease is poor. We report a case of Menkes kinky hair disease with characteristic clinical, laboratory, and radiological findings with significant macrocephaly (above 95th percentile for age). Reporting of this case is of significance because of its rarity and association with significant macrocephaly.
门克斯卷发综合征，又称毛发硫营养不良，是一种罕见的X连锁隐性进行性神经退行性疾病，临床特征为进行性精神运动障碍、难治性癫痫发作和毛干异常，最常见的是扭发。该病与位于X染色体上的铜转运基因突变有关，导致铜依赖性酶缺乏。血浆铜和铜蓝蛋白水平降低可确诊。经典型门克斯病的预后较差。我们报告一例门克斯卷发综合征病例，具有特征性的临床、实验室和影像学表现，伴有明显的巨头症（年龄超过第95百分位）。报告该病例具有重要意义，因其罕见且与明显的巨头症相关。
