Bakare Muideen O, Ikegwuonu Nkeiruka N
Child and Adolescent Unit, Federal Neuro-Psychiatric Hospital, New Haven, Enugu, Enugu State, Nigeria.
J Med Case Rep. 2008 Feb 22;2:56. doi: 10.1186/1752-1947-2-56.
Hypomelanotic skin disorders like tuberous sclerosis and hypomelanosis of Ito that present with multiple systemic manifestations have been reported in association with childhood autism. Oculocutaneous albinism is another hypomelanotic skin disorder that rarely presents with multiple systemic manifestations. It is infrequently reported in association with childhood autism when compared to tuberous sclerosis and hypomelanosis of Ito.
This article reports a case of co-morbid childhood autism and oculocutaneous albinism in a 13-year old boy from Nigeria in Sub-Saharan Africa.
The observation in this case report and in two previous reports which documented association between oculocutaneous albinism and childhood autism both in the affected individuals and families of individuals with childhood autism, raises the question of a possible genetic and clinical association between oculocutaneous albinism and childhood autism. More family and genetic studies into the relationship between oculocutaneous albinism and childhood autism is desirable. This may provide useful clues into the etiology, prevention and management of childhood autism as well as oculocutaneous albinism.
像结节性硬化症和伊藤色素减退症这类伴有多种全身表现的色素减退性皮肤病已被报道与儿童自闭症有关。眼皮肤白化病是另一种色素减退性皮肤病，很少出现多种全身表现。与结节性硬化症和伊藤色素减退症相比，眼皮肤白化病与儿童自闭症相关的报道较少。
本文报告了一名来自撒哈拉以南非洲尼日利亚的13岁男孩同时患有儿童自闭症和眼皮肤白化病的病例。
本病例报告以及之前两份记录了眼皮肤白化病与儿童自闭症在患者及其自闭症患儿家庭中存在关联的报告中的观察结果，引发了眼皮肤白化病与儿童自闭症之间可能存在遗传和临床关联的问题。需要对眼皮肤白化病与儿童自闭症之间的关系进行更多的家庭和遗传学研究。这可能为儿童自闭症以及眼皮肤白化病的病因、预防和管理提供有用线索。
