Diagnostic and therapeutic caveats in Griscelli syndrome
Por:
Castaño-Jaramillo L.-M., Lugo-Reyes S.O., Cruz Muñoz M.E., Scheffler-Mendoza S.C., Duran McKinster C., Yamazaki-Nakashimada M.A., Espinosa-Padilla S.E., Saez-de-Ocariz Gutierrez M.D.M.
Publicada:
1 ene 2021
Resumen:
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. © 2021 The Scandinavian Foundation for Immunology
Filiaciones:
Castaño-Jaramillo L.-M.:
Clinical Immunology Department, Instituto Nacional de Pediatría, Mexico City, Mexico
Lugo-Reyes S.O.:
Immunodeficiencies Research Unit, Instituto Nacional de Pediatría, Mexico City, Mexico
Cruz Muñoz M.E.:
Molecular Immunology Laboratory. Faculty of Medicine, Universidad Autonoma del Estado de Morelos, Cuernavaca, Mexico
Scheffler-Mendoza S.C.:
Clinical Immunology Department, Instituto Nacional de Pediatría, Mexico City, Mexico
Duran McKinster C.:
Dermatology Department, Instituto Nacional de Pediatria, Mexico City, Mexico
Yamazaki-Nakashimada M.A.:
Clinical Immunology Department, Instituto Nacional de Pediatría, Mexico City, Mexico
Espinosa-Padilla S.E.:
Immunodeficiencies Research Unit, Instituto Nacional de Pediatría, Mexico City, Mexico
Saez-de-Ocariz Gutierrez M.D.M.:
Dermatology Department, Instituto Nacional de Pediatria, Mexico City, Mexico
All Open Access; Bronze
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