Chediak-Higashi症候羣之一病例報告

A Case Report of Chediak-Higashi Syndrome

陳五常(Wu-Charng Chen) ； 陳德輝(Teh-Huei Chen) ； 錢陵梅(Ling-Mei Chien)

《Acta Paediatrica Sinica》 24卷3期 (1983/09) Pp. 188-192

摘要

本文報告1例Chediak-Higashi症候羣。病兒爲18個月大女嬰，因發燒及腹脹約20天而住院。此女嬰之父母爲姨表通婚。1歲以內經常有呼吸道感染，並曾在頸部及右側臀部長過癤子。外觀上可見頭髮柔細，呈銀灰色，皮膚呈白化症樣，眼底及虹膜都有色素脫失，肝脾極度腫大。血液像顯示全部血球減少。血液抹片發現白血球細胞質內有異常的大型顆粒。多形核白血球缺乏趨化能力。故診斷爲Chediak-Higashi症候羣。住院期間曾給予大量類固醇及維他命C治療，但無顯著效果。

並列摘要

A case of Chediak-Higashi syndrome is reported. The patient was an 18-month-old female baby with the chief complaints of persistent high fever and abdominal distention for 20 days. Her parents were related to be first cousins. Frequent respiratory tract infections and furunculosis were noted during the first year of life. Physical examination revealed silver gray tinted hair, oculocutaneous albinism and marked hepatosplenomegaly. Laboratory examination showed normal serum immunoglobulin levels except high IgM, and normal lymphoproliferative response to phytomitogens and the presence of large abnormal granules in leukocytes and absent chemotactic activity of neutrophils. The patient did not respond to large dose of corticosteroid and vitamin C, and died two months later.

並列關鍵字

Chediak-Higashi syndrome