Pascual-Castroviejo I, López-Rodriguez L, de la Cruz Medina M, Salamanca-Maesso C, Roche Herrero C
Paediatric Neurology Service, Hospital Infantil, La Paz, Madrid, Spain.
Can J Neurol Sci. 1988 May;15(2):124-9. doi: 10.1017/s0317167100027475.
We studied 34 Spanish children with hypomelanosis of Ito. This disease has an incidence of 1 per 1000 new patients consulting a paediatric neurological service, or 1 per 8000-10,000 unselected patients in a children's hospital. About 94% of our patients show noncutaneous abnormalities. Mental retardation (IQ below 70) was present in 64.7%; another 14.7% had an IQ between 70 and 90, usually associated with poor school performance. Four children exhibited autistic behaviour. Seizures of various types were present in 53% of cases. Other skin alterations in addition to the typical hypomelanosis were observed in 38% of our cases: café-au-lait spots, angiomatous nevi, nevus marmorata, nevus of Ota, Mongolian blue spot, heterochromia of the iris or hair, and other nonspecific pigmentations. Other associated disorders occur inconsistently and include macrocephaly, microcephaly, hémihypertrophy, kyphoscoliosis, coarse facial features, genital anomalies, inguinal hernia, congenital heart disease, hypertelorism, and abnormalities of the teeth, feet and eyes. Autosomal dominant inheritance is demonstrated in some but not all cases.
我们研究了34名患有伊藤色素减退症的西班牙儿童。这种疾病在每1000名咨询儿科神经科服务的新患者中的发病率为1例，或在儿童医院每8000 - 10000名未经过筛选的患者中的发病率为1例。我们的患者中约94%表现出非皮肤异常。智力迟钝（智商低于70）的患者占64.7%；另有14.7%的患者智商在70至90之间，通常伴有学业成绩不佳。4名儿童表现出自闭行为。53%的病例出现了各种类型的癫痫发作。在我们38%的病例中观察到除典型色素减退症之外的其他皮肤改变：咖啡斑、血管瘤性痣、大理石样痣、太田痣、蒙古斑、虹膜或毛发异色以及其他非特异性色素沉着。其他相关疾病的发生并不一致，包括巨头畸形、小头畸形、半身肥大、脊柱侧弯、面容粗糙、生殖器异常、腹股沟疝、先天性心脏病、眼距过宽以及牙齿、足部和眼部异常。常染色体显性遗传在部分但并非所有病例中得到证实。
