Abu Ghedda Sedra, Alkadamani Sedra, Sabouni Rami, Mahmoud Jaber
Faculty of Medicine, Aleppo University, Aleppo.
Faculty of Medicine, Damascus University.
Ann Med Surg (Lond). 2024 Aug 14;86(10):6164-6168. doi: 10.1097/MS9.0000000000002462. eCollection 2024 Oct.
Griscelli syndrome (GS) is a rare autosomal recessive genetic disorder that primarily manifests as hair and skin hypopigmentation, with three types differentiated by their specific genetic defects as well as by their clinical features. Clinically, GS type 1 is characterized by early neurological alterations, while GS type 2 is characterized by immunodeficiency and could present with neurological symptoms, and type 3 is characterized by a chromosomal anomaly without a specific clinical profile besides hypopigmentation. This article details the challenges faced in the diagnosis of a patient with GS who presents with neurological symptoms followed by immunological deficits.
A 7-month-old female presented with complaints of developmental delay following an otitis media infection. Upon examination, she exhibited signs of psychomotor developmental regression and had pale bronze skin and silvery-gray hair, as well as hepatosplenomegaly. The examination of her hair shaft revealed a pattern consistent with GS. During her hospitalization, the patient developed an intermittent fever and signs of hemophagocytic lymphohistiocytosis (HLH). She subsequently developed recurrent seizures treated with phenytoin and Aciclovir. Shortly she succumbed to respiratory distress syndrome and multisystem failure.
The presence of HLH confirms the type of GS. However, in some cases, the HLH criteria could not be fulfilled, presenting a diagnostic challenge.
The genetic examination is the only way to differentiate GS type 1 from type 2. However, when it is not available, the presence of specific symptoms and features may assist in the classification. Furthermore, treatments should be administered when GS type 2 is suspected since they have the potential to improve life quality through treating HLH, delaying and altering the neurological symptoms.
格里塞利综合征（GS）是一种罕见的常染色体隐性遗传病，主要表现为毛发和皮肤色素减退，根据其特定的基因缺陷和临床特征可分为三种类型。临床上，1型GS的特征是早期出现神经学改变，2型GS的特征是免疫缺陷，可能伴有神经学症状，3型GS的特征是染色体异常，除色素减退外无特定临床特征。本文详细介绍了一名出现神经学症状并伴有免疫缺陷的GS患者在诊断过程中面临的挑战。
一名7个月大的女性因中耳炎感染后出现发育迟缓前来就诊。检查发现，她有精神运动发育倒退的迹象，皮肤呈淡青铜色，头发为银灰色，且肝脾肿大。对她的毛干进行检查，发现其模式与GS相符。在住院期间，该患者出现间歇性发热和噬血细胞性淋巴组织细胞增生症（HLH）的迹象。随后她出现了复发性癫痫，接受了苯妥英钠和阿昔洛韦治疗。不久后，她因呼吸窘迫综合征和多系统衰竭而死亡。
HLH的存在证实了GS的类型。然而，在某些情况下，无法满足HLH的标准，这带来了诊断挑战。
基因检查是区分1型GS和2型GS的唯一方法。然而，在无法进行基因检查时，特定症状和特征的存在可能有助于分类。此外，当怀疑为2型GS时应进行治疗，因为通过治疗HLH、延迟和改变神经学症状，有可能提高生活质量。
