Salazar-Cabrera A N, Matos-Martínez M, Sánchez-Villegas M C, Lázaro-Castillo L M, Méndez-León J, Martínez-Amigon J, Aguilar M, García-Escobar B
Servicio de Medicina Interna Pediátrica, Hospital General, México, D.F.
Bol Med Hosp Infant Mex. 1993 Jul;50(7):503-7.
It is presented a six-year-old girl with silvered hair syndrome, of Griscelli-Prunieras variety; hereditary sickness with regressive autosomic and distinguished by partial albinism and leukocytic alterations. She presented the acute phase of the sickness distinguished by: hepatosplenomegaly, thrombocytopenia, lymphadenopathy generalized, and systematic infection; it is corroborated how a hemophagocytic syndrome; during her evolution developed pancerebellar syndrome. By laboratory were corroborated: decrease phagocytosis, degranulation 0%, decrease of globulins gamma, neutropenia, skin test of PPD and Candidin negatives, there were not find the giant inclusions in bone marrow leukocyte and peripheric blood that are feature of Chediak-Higashi syndrome. Another alteration that was the distribution of mote of melanin on the hair that in the Griscelli-Prunieras syndrome are six times bigger in the Chediak-Higashi syndrome.
本文介绍了一名患有Griscelli-Prunieras型银发综合征的六岁女孩；这是一种常染色体隐性遗传性疾病，其特征为部分白化病和白细胞改变。她处于疾病急性期，表现为：肝脾肿大、血小板减少、全身性淋巴结病和系统性感染；证实存在噬血细胞综合征；在疾病进展过程中出现了全小脑综合征。实验室检查证实：吞噬作用降低、脱粒率为0%、γ球蛋白降低、中性粒细胞减少、PPD和念珠菌素皮肤试验阴性，未在骨髓白细胞和外周血中发现Chediak-Higashi综合征特有的巨大包涵体。另一个改变是毛发上黑色素颗粒的分布，在Griscelli-Prunieras综合征中，其颗粒大小是Chediak-Higashi综合征中的六倍。
