Griscelli syndrome (GS) is a rare autosomal recessive disease with characteristic pigment distribution, and there are currently 3 types according to the underlying genetic defect and clinical features. We present the case of a girl born from consanguineous parents who presented with predominant neurologic symptoms, silvery hair and granulomatous skin lesions. Cerebral magnetic resonance revealed diffuse white matter lesions, and central nervous system (CNS) lymphocytic infiltration was suspected. The patient underwent haematopoietic stem cell transplantation with graft failure and autologous reconstitution. She developed elevated liver enzyme with a cholestatic pattern. Multiple liver biopsies revealed centrilobular cholestasis and unspecific portal inflammation that improved with immunomodulatory treatment. She was revealed to have an impaired cytotoxicity in NK cells and a decreased expression of RAB27A. However, no variants were found in the gene. All types of GS present with pigment dilution and irregular pigment clumps that can be seen through light microscopy in hair and skin biopsy. Dermic granulomas and immunodeficiency with infectious and HLH predisposition have been described in GS type 2 (GS2). Neurologic alterations might be seen in GS type 1 (GS1) and GS type 2 (GS2), due to different mechanisms. GS1 presents with neurologic impairment secondary to myosin Va role in neuronal development and synapsis. Meanwhile, GS2 can present with neurologic impairment secondary to SNC HLH. Clinical features and cytotoxicity might aid in differentiating GS1 and GS2, especially since treatment differs.

中文翻译：

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Griscelli综合征的诊断和治疗警告

Griscelli综合征（GS）是一种罕见的常染色体隐性遗传疾病，具有特征性的色素分布，根据潜在的遗传缺陷和临床特征，目前有3种类型。我们介绍了一个来自近亲父母的女孩，该女孩表现出主要的神经系统症状，银发和肉芽肿性皮肤病变。脑磁共振显示弥漫性白质病变，并怀疑有中枢神经系统（CNS）淋巴细胞浸润。该患者接受造血干细胞移植，移植失败并自体重建。她出现了胆汁淤积型肝酶升高。多次肝活检显示小叶胆汁淤积和非特异性门静脉炎症可通过免疫调节治疗得到改善。她被发现在NK细胞中具有受损的细胞毒性，并降低了RAB27A的表达。但是，在该基因中未发现任何变体。所有类型的GS都存在色素稀释和不规则的色素块，可以通过光学显微镜在头发和皮肤活检中看到。GS 2型（GS2）中描述了皮肤肉芽肿和具有感染性和HLH易感性的免疫缺陷。由于机制不同，可能在GS 1型（GS1）和GS 2型（GS2）中出现神经系统改变。GS1表现为继发于肌球蛋白Va在神经元发育和突触中继发的神经系统损害。同时，GS2可表现为继发于SNC HLH的神经系统损伤。临床特征和细胞毒性可能有助于区分GS1和GS2，尤其是由于治疗方法不同。