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首页> 外文期刊>Journal of child neurology >Neurometabolic disorder with microcephaly, dystonia, and central cyanosis masquerading as cerebral palsy
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Neurometabolic disorder with microcephaly, dystonia, and central cyanosis masquerading as cerebral palsy

机译：神经代谢紊乱伴小头畸形，肌张力障碍和中枢性紫osis伪装为脑性瘫痪

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摘要

Many neurodegenerative diseases can be misdiagnosed as cerebral palsy. The correct diagnosis is reached when the condition recurs in families or when there are specific clinical signs. The clinical and imaging features of 3 children, from 2 unrelated families, presenting with global developmental delay and dystonia are described, in whom the presence of cyanosis and methemoglobinemia confirmed the diagnosis of recessive hereditary methemoglobinemia type 2. Magnetic resonance imaging showed significant cerebellar atrophy in 2 of the 3 babies. In dark-skinned children, this condition is underdiagnosed, as mild cyanosis is difficult to detect. Screening for methemoglobinemia in children with dystonia, microcephaly, and progressive cerebellar atrophy can be helpful in identifying more cases. As there is no curative treatment for this autosomal recessive condition, the exact diagnosis offers the best chance for prenatal screening, by detecting deficient NADH - cytochrome b5 reductase enzyme activity or by identifying the specific mutation in cultured amniotic fluid cells.
机译：许多神经退行性疾病可被误诊为脑瘫。当病情在家庭中复发或出现特定的临床体征时，才能达到正确的诊断。描述了来自2个无关家庭的3名儿童的临床和影像学特征，表现为整体发育延迟和肌张力障碍，其中紫osis和高铁血红蛋白血症的存在证实了隐性遗传性高铁血红蛋白血症2型的诊断。磁共振成像显示小脑萎缩明显3个婴儿中的2个。在深色皮肤的儿童中，由于难以检测到轻度的紫osis，因此对这种疾病的诊断不足。筛查患有肌张力障碍，小头畸形和进行性小脑萎缩的儿童的高铁血红蛋白血症有助于发现更多病例。由于没有针对这种常染色体隐性遗传病的治疗方法，因此准确的诊断可通过检测NADH-细胞色素b5还原酶活性不足或鉴定培养的羊水细胞中的特定突变为产前筛查提供最佳机会。

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