The Chédiak-Higashi Syndrome: CT and MR Findings

Overview

Journal Pediatr Radiol

Specialty Pediatrics

Date 1994 Jan 1

PMID 7800448

Citations 5

Authors

R Ballard

R D Tien

V Nohria

V Juel

Affiliations

Soon will be listed here.

Abstract

Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive disorder postulated to result from lack of regulation of fusion of the primary lysosomes. In this report we present the MR and CT features of the brain in a patient with known CHS. These findings include diffuse atrophy of the brain with diffuse periventricular decreased density identified with CT, as well as increased signal on the T2-weighted images and lack of enhancement on the T1-weighted images in the periventricular and corona radiata regions.

Citing Articles

Novel MRI Finding of Bilateral Globus Pallidal Involvement in Accelerated Phase of Chédiak -Higashi Syndrome.

Kekatpure M, Bhat V Ann Indian Acad Neurol. 2020; 23(1):126-129.

PMID: 32055136 PMC: 7001451. DOI: 10.4103/aian.AIAN_213_19.

Clinical and imaging considerations in primary immunodeficiency disorders: an update.

Wu E, Ehrlich L, Handly B, Frush D, Buckley R Pediatr Radiol. 2016; 46(12):1630-1644.

PMID: 27655432 PMC: 5083248. DOI: 10.1007/s00247-016-3684-x.

Chédiak-Higashi syndrome: brain MRI and MR spectroscopy manifestations.

Lolli V, Ares G, Pruvo J, Abou Chahla W, Jissendi-Tchofo P Pediatr Radiol. 2015; 45(8):1253-7.

PMID: 25875633 DOI: 10.1007/s00247-014-3256-x.

Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease.

Weisfeld-Adams J, Mehta L, Rucker J, Dembitzer F, Szporn A, Lublin F Orphanet J Rare Dis. 2013; 8:46.

PMID: 23521865 PMC: 3610301. DOI: 10.1186/1750-1172-8-46.

Genetic defects in Chediak-Higashi syndrome and the beige mouse.

Spritz R J Clin Immunol. 1998; 18(2):97-105.

PMID: 9533653 DOI: 10.1023/a:1023247215374.

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