Yamaguchi T, Osada Y
Department of Urology, Miyazaki Medical College.
Hinyokika Kiyo. 1987 Nov;33(11):1913-6.
A 6-year-old boy whose chief complaint was right undescended testis was referred to our clinic. He had mental retardation, prominent and widely spaced eyes, large and low-set ears, micrognathia, hyperpigmentation and enlarged genitalia. Therefore, he was diagnosed to have Leprechaunism. Leprechaunism is rare and few studies dealing with this disease have been reported in Japan. With a review of the literature, we briefly discuss about the clinical features of Leprechaunism.
一名6岁男孩因主要诉求为右侧隐睾被转诊至我院。他有智力发育迟缓、眼距宽且突出、耳朵大且位置低、小颌畸形、色素沉着和生殖器增大。因此,他被诊断为先天性全身脂肪代谢障碍。先天性全身脂肪代谢障碍很罕见,在日本鲜有关于该疾病的研究报道。通过文献回顾,我们简要讨论先天性全身脂肪代谢障碍的临床特征。