Authors: O. Kilic, D. Ay Tuncel, B.S. Gorkem, A. Ozcan, S. Akyol, O.O. Yuregir, O. Pamukcu, E. Unal, M. Karakukcu, T. Patıroglu
Published: 2019-06-17
DOI: 10.1097/01.hs9.0000565964.82625.95
Source: Full article
Background:Hemophagocytic syndrome is often fatal in Griscelli syndrome type 2, and the only cure is hematopoietic stem cell transplantation.Aims:We aimed to emphasize the importance of sinus Bradycardia as a sign of Central Nervous System Involvement in a Child with Griscelli Syndrome Type 2Methods:A 6‐year‐old female Syrian refugee with gray hair was referred to Erciyes University for hematopoietic stem cell transplantation (HSCT) for Griscelli syndrome type 2. Her parents were consanguineous, and one of her siblings had the similar hair color and died when she was 9 months old.Blood count analyses revealed a hemoglobin of 5 gr/dl, leukocyte count of 810x109/L and platelet count of 2x109/L. Bone marrow aspiration and biopsy showed hemophagocytosis with normal cellularity. Sinus bradycardia was detected on the first day of her admission on ECG (50/min). Because of sinus bradycardia, a cranial magnetic resonance imaging (MRI) was done. A homozygous pathogenic c.514_518delCAAGC (p.Gln172Asnfs∗2) (pQ172Nfs∗2) variant was detected in the molecular analysis of RAB27A gene.Results:After the diagnosis of Griscelli syndrome type 2, she was treated according to the HLH 2004 protocol with additional intrathecal chemotherapy. The bradycardia recovered in three days. Six weeks after this treatment the patient showed complete improvement but her parents refused further treatments.Summary/Conclusion:Different types of arrhythmia can be seen in different types of diseases that may affect the CNS. According to best of our knowledge, this is the first reported case of a child with Griscelli syndrome type 2 who presented sinus bradycardia as a sign of CNS involvement. It should be considered that sinus bradycardia in a child with partial oculocutaneous albinism may be an important predictor for CNS involvement of GS‐2.