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.
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Sung JH, Meyers JP, Stadlan EM et al (1969) Neuropathological changes in Chédiak-Higashi disease. J Neuropathol Exp Neurol 28:86–118
Henter JI, Elinder G (1992) Cerebromeningeal haemophagocytic lymphohistiocytosis. Lancet 339:104–107
Janka GE, Schneider EM (2004) Modern management of children with haemophagocytic lymphohistiocytosis. Br J Haematol 124:4–14
Herman TE, Lee BC (1999) Accelerated phase of Chédiak-Higashi syndrome diffuse white-matter-enhancing lesions. Pediatr Radiol 29:527–529
Ballard R, Tien RD, Nohria V et al (1994) The Chédiak-Higashi syndrome: CT and MR findings. Pediatr Radiol 24:266–267
Kondo N, Shimozawa N, Asano J et al (1994) Chediak-Higashi syndrome with cerebellar cortical atrophy detected by MRI. Clin Genet 46:4339–4440
Rego I, Severino M, Micalizzi C et al (2012) Neuroradiologic findings and follow-up with magnetic resonance imaging of the genetic forms of haemophagocytic lymphohistiocytosis with CNS involvement. Pediatr Blood Cancer 58:810–814
Henter JI, Nennesmo I (1997) Neuropathological findings and neurological symptoms in 23 children with hemophagocytic lymphohistiocytosis. J Pediatr 130:358–365
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Lolli, V., Soto Ares, G., Pruvo, JP. et al. Chédiak-Higashi syndrome: brain MRI and MR spectroscopy manifestations. Pediatr Radiol 45, 1253–1257 (2015). https://doi.org/10.1007/s00247-014-3256-x
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DOI: https://doi.org/10.1007/s00247-014-3256-x