First Co-Occurrence of Griscelli Syndrome Type 2 and Neurofibromatosis Type 1

• Published in: Molecular syndromology Vol. 15; no. 3; p. 247
• Main Authors: Kendir-Demirkol, Yasemin, Yeter, Burcu, Yararbaş, Kanay
• Format: Journal Article
• Language: English
• Published: Switzerland 01.06.2024
• Subjects: Griscelli syndrome type 2; Rare genetic disorder; Neurofibromatosis type 1; NF1 gene; Co-occurrence; RAB27A gene
• ISSN: 1661-8769
• DOI: 10.1159/000536162

Griscelli syndrome type 2 (GS2) and neurofibromatosis type 1 (NF1) are both rare genetic disorders, but their coexistence has not been documented prior to this report. We present the case of a 4-year-old girl initially diagnosed with GS2 due to albinism and immunodeficiency, and later with NF1, manifested by the development of multiple café-au-lait macules (CALMs) and MRI findings. The patient was the second child of consanguineous parents and exhibited symptoms early, with silver-gray hair at birth and subsequent health complications at 9 months. GS2 was confirmed via the identification of a homozygous frameshift variant in the gene, and a de novo heterozygous splice site mutation in the gene established the NF1 diagnosis. Her treatment included hematopoietic stem cell transplantation and ongoing surveillance for NF1-associated complications. This case emphasizes the importance of considering the potential for concurrent rare genetic diseases in clinical evaluations, especially with progressive or evolving symptomatology.