Pediatr Radiol DOI 10.1007/s00247-014-3256-x
CASE REPORT
Chédiak-Higashi syndrome: brain MRI and MR spectroscopy manifestations Valentina Lolli & Gustavo Soto Ares & Jean-Pierre Pruvo & Wadih Abou Chahla & Patrice Jissendi-Tchofo
Received: 15 April 2014 / Revised: 4 November 2014 / Accepted: 26 November 2014 # Springer-Verlag Berlin Heidelberg 2015
Abstract Chédiak-Higashi syndrome is a rare inherited metabolic disorder characterized by partial oculocutaneous albinism, immunodeficiency, and neurological dysfunction. We present the brain magnetic resonance imaging (MRI) and MR spectroscopy (MRS) findings obtained during the accelerated phase of the disorder in an 8-year-old. The brain MRI manifestations at recurrences 15 months and 24 months later are reported as well. Keywords Chédiak-Higashi syndrome . Hemophagocytic lymphohistiocytosis . Oculocutaneous albinism . Magnetic resonance imaging (MRI) . MR spectroscopy (MRS) . Child
lysosomes and abnormal aggregation. Anomalous giant granules are also found in melanocytes, fibroblasts, renal tubular cells, type II pneumocytes, hepatocytes, and neurons [1]. To date, approximately 200 cases of Chédiak-Higashi syndrome have been reported in the literature. Documented neuroimaging studies of the condition are few. We present the brain magnetic resonance imaging (MRI) and MR spectroscopy (MRS) findings obtained during the accelerated phase of the disorder in an 8-year-old. The brain MRI manifestations at recurrences 15 months and 24 months after the first event are reported as well.
Case report Introduction Chédiak-Higashi syndrome is a rare autosomal recessive disorder caused by mutation of the lysosomal trafficking regulator (LYST) gene, located on chromosome 1q42–44. The hallmark of the disorder is the presence of large peroxidase-positive cytoplasmic inclusions in white blood cells on the peripheral blood smear, formed through a combined process of impaired regulation in the fusion of primary V. Lolli (*) : G. Soto Ares : J.
CASE REPORT
Chédiak-Higashi syndrome: brain MRI and MR spectroscopy manifestations Valentina Lolli & Gustavo Soto Ares & Jean-Pierre Pruvo & Wadih Abou Chahla & Patrice Jissendi-Tchofo
Received: 15 April 2014 / Revised: 4 November 2014 / Accepted: 26 November 2014 # Springer-Verlag Berlin Heidelberg 2015
Abstract Chédiak-Higashi syndrome is a rare inherited metabolic disorder characterized by partial oculocutaneous albinism, immunodeficiency, and neurological dysfunction. We present the brain magnetic resonance imaging (MRI) and MR spectroscopy (MRS) findings obtained during the accelerated phase of the disorder in an 8-year-old. The brain MRI manifestations at recurrences 15 months and 24 months later are reported as well. Keywords Chédiak-Higashi syndrome . Hemophagocytic lymphohistiocytosis . Oculocutaneous albinism . Magnetic resonance imaging (MRI) . MR spectroscopy (MRS) . Child
lysosomes and abnormal aggregation. Anomalous giant granules are also found in melanocytes, fibroblasts, renal tubular cells, type II pneumocytes, hepatocytes, and neurons [1]. To date, approximately 200 cases of Chédiak-Higashi syndrome have been reported in the literature. Documented neuroimaging studies of the condition are few. We present the brain magnetic resonance imaging (MRI) and MR spectroscopy (MRS) findings obtained during the accelerated phase of the disorder in an 8-year-old. The brain MRI manifestations at recurrences 15 months and 24 months after the first event are reported as well.
Case report Introduction Chédiak-Higashi syndrome is a rare autosomal recessive disorder caused by mutation of the lysosomal trafficking regulator (LYST) gene, located on chromosome 1q42–44. The hallmark of the disorder is the presence of large peroxidase-positive cytoplasmic inclusions in white blood cells on the peripheral blood smear, formed through a combined process of impaired regulation in the fusion of primary V. Lolli (*) : G. Soto Ares : J.
