{
    "abstract": "Griscelli syndrome (GS) is a rare genetic disorder characterized by oculocutaneous albinism and variable immune dysfunction. Among three distinct types of GS, occurring due to different genetic mutations; GS type 1 presents with neurological manifestations, hemophagocytic lymphohistiocytosis (HLH) generally develops in GS type 2, and GS type 3 primarily exhibits oculocutaneous albinism. HLH, a life-threatening condition with excessive immune activation, may occur secondary to various triggers, including infections, and develop in different tissues, as well as in the testis, similar to Erdheim-Chester disease.\nAfter referral at 19 days of age with restlessness, left testicular swelling, and erythema, an infant was diagnosed with bilateral hydrocele with left testicular torsion by testicular ultrasound, leading to a left orchiectomy. Pathology showed testicle and spermatic cord hemorrhagic necrosis. A week later, the infant presented with right testicular swelling and hepatosplenomegaly. He had silvery gray hair. We administered broad-spectrum antibiotics for increased acute phase reactants. Viral panels, including cytomegalovirus and Epstein-Barr virus, were negative. Laboratory findings indicated cholestasis and disseminated intravascular coagulation. Bone marrow aspiration revealed hemophagocytosis and increased histiocytes. Microscopic hair examination supported the diagnosis of GS. Sanger sequencing revealed the homozygous mutation c.217T>G (p.W73G) in RAB27A.\nPrompt diagnosis and treatment of HLH are crucial to prevent progression to multi-organ failure and death. This case highlights the diverse tissue involvement and diagnostic challenges in Griscelli syndrome type 2.",
    "authors": [
        {
            "affiliation": "Faculty of Medicine, Hacettepe University, Ankara, T\u00fcrkiye.",
            "firstname": "Taha",
            "initials": "T",
            "lastname": "Solako\u011flu"
        },
        {
            "affiliation": "Department of Medical Biochemistry, Hacettepe University Faculty of Medicine, Ankara, T\u00fcrkiye.",
            "firstname": "Gamze",
            "initials": "G",
            "lastname": "S\u00f6nmez"
        },
        {
            "affiliation": "Department of Medical Biochemistry, Hacettepe University Faculty of Medicine, Ankara, T\u00fcrkiye.",
            "firstname": "Ate\u015f",
            "initials": "A",
            "lastname": "Kutay Tenekeci"
        },
        {
            "affiliation": "Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, T\u00fcrkiye.",
            "firstname": "Hira",
            "initials": "H",
            "lastname": "Altunb\u00fcker"
        },
        {
            "affiliation": "Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, T\u00fcrkiye.",
            "firstname": "Halil Tuna",
            "initials": "HT",
            "lastname": "Akar"
        },
        {
            "affiliation": "Division of Pediatric Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, T\u00fcrkiye.",
            "firstname": "Feyzi \u0130lhan",
            "initials": "F\u0130",
            "lastname": "Tezcan"
        },
        {
            "affiliation": "Division of Pediatric Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, T\u00fcrkiye.",
            "firstname": "Deniz",
            "initials": "D",
            "lastname": "Cagdas"
        }
    ],
    "conclusions": "Prompt diagnosis and treatment of HLH are crucial to prevent progression to multi-organ failure and death. This case highlights the diverse tissue involvement and diagnostic challenges in Griscelli syndrome type 2.",
    "copyrights": null,
    "doi": "10.24953/turkjpediatr.2024.4602",
    "journal": "The Turkish journal of pediatrics",
    "keywords": [
        "RAB27A",
        "griscelli syndrome",
        "hemophagocytic lymphohistiocytosis",
        "local HLH",
        "newborn",
        "testicular torsion"
    ],
    "methods": null,
    "publication_date": "2025-01-14",
    "pubmed_id": "39807742",
    "results": null,
    "title": "Griscelli syndrome: Erdheim-Chester disease-like local presentation progressing to accelerated phase.",
    "xml": "<Element 'PubmedArticle' at 0x788501d138d0>"
}