A Case of Chediak-Higashi Syndrome Presented with Hemophagocytic Lymphohistiocytosis

Abstract

Chediak Higashi syndrome, is a rare autosomal recessive disorder characterised by oculocutaneus albinism, recurrent respiratory system infections and other pyogenic infections. Hemophagocytic lymphohistiocytosis can develop in any time of the life in patients with Chediak Higashi syndrome. A 14-month-old girl patient was diagnosed as hemophagocytic lymphohistiocytosis with the laboratory findings of pancytopenia, high levels of triglyceride and ferritin, hypofibrinogenemia, low ratio of natural killers in lymphocyte subtypes, and with determined macrophages that made hemophagocytosis in recurrent bone marrow aspirates. The treatment protocol of hemophagocytic lymphohistiocytosis 2004 was administered. During the maintenance treatment, recurrence was developed. In the second bone marrow examination, the diagnosis of Chediak Higashi syndrome was made with determined intracytoplasmic giant granules. Hair analysis result was meaningful for Chediak Higashi syndrome. In this report, we would like to emphasize the condition that especially in early infants, Chediak Higashi syndrome presenting with hemophagocytic lymphohistiocytosis may be misdiagnosed because of the uncertain clinical findings and this can be the result of resistance to treatment. Keywords: Albinism, Chediak Higashi syndrome, Hemophagocytic lymphohistiocytosis ÖZET Hemofagositik Lenfohistiositoz Klini¤i ile Prezente Chediak-Higashi Sendromu OlgusuChediak Higashi sendromu (CHS) nadir görülen otozomal resesif bir hastal›kt›r. Hastal›k okülokutanöz albinizm ile tekrarlayan solunum sistemi ve di¤er piyojenik enfeksiyonlar ile karekterizedir. CHS'li hastalarda hayat›n herhangi bir döneminde hemofagositik lenfohistiositoz geliflebilir. On dört ayl›k k›z hasta pansitopeni, trigliserit ve ferritin düzeylerinin yüksek olmas›, hipofibrinojenemi, lenfosit alt tiplendirmesinde do¤al öldürücü hücre oranlar›n›n düflük gelmesi ve tekrarlayan kemik ili¤i incelemesinde hemofagositoz yapm›fl makrofajlar görülmesi üzerine hemofagositik lenfohistiositoz olarak kabul edildi. Hemofagositik lenfohistiositoz (HLH 2004) tedavi protokolü baflland›. Olgu idame tedavisi aflamas›nda iken nüks etti. ‹kinci kemik ili¤i incelemesinde intrastoplazmik dev granüllerin görülmesi ile CHS tan›s› kondu. Bak›lan saç analizi CHS ile uyumlu bulundu. Bu makale ile hemofagositik lenfohistiositoz tan›s›nda özellikle erken bebeklikte klini¤in tam olarak ortaya ç›kmamas› nedeni ile CHS'nin atlanababilece¤i ve bu olgular›n tedaviye dirençlerinin önemli bir problem oluflturdu¤unun vurgulanmas› amaçlan-m›flt›r.

Chediak–Higashi Syndrome Presented as Accelerated Phase: Case Report and Review of the Literature

“…Typically patients with CHS present at an early age with recurrent pyogenic infection, partial oculo-cutaneous albinism, mild coagulation defect and progressive peripheral neuropathy [3,13,14]. There is recurrent infection especially pulmonary infection such as pneumonia in CHS patients.…”

“…Furthermore, Staphylococcus aureus, Beta-Hemolytic Streptococci and Pneumococcal spices are more common pathogens. Partial oculocutaneous albinism is prominent and has been seen in skin, hair and eyes [1,14,16]. However, it can be presented completely, partially or absent.…”

“…Hemophagocytic syndrome results from an inappropriate stimulation of macrophages in bone marrow and lymphoid organs, leading to phagocytosis of blood cells and production of high amounts of pro-inflammatory cytokines. It is characterized by clinical criteria (fever, hepatosplenomegaly, lymphadenopathy), biological features (pancytopenia, low fibrinogen, high plasma triglycerids, high ferritin and abnormal hepatic tests) and a diffuse lymphohistiocytic infiltration of the liver, spleen, lymph nodes, bone marrow and central nervous system [14,[16][17][18][19].…”

Chediak-Higashi Syndrome: A Case Report of a Girl Without Silvery Hair and Oculocutaneous Albinism Presenting with Hemophagocytic Lymphohistiocytosis

“…Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive inherited disorder characterized by variable degrees of oculocutaneous albinism, severe immune deficiency and unassociated lymphoproliferative syndrome, and intracytoplasmic giant granules in leukocytes, monocytes, platelets, melanocytes, and erythroid precursors [ 1 , 2 , 3 , 4 , 5 ]. CHS is caused by mutations in the lysosomal trafficking regulator gene (LYST) [ 3 , 6 ].…”

Innovative Formula for Management of Dermatological Disorders Associated with Chediak Higashi

“…Bleeding regards to defective platelet intracellular granules and functions [1]. Petechial rashes were reported [4].…”