Clinical and neuroimaging findings of Cree leukodystrophy: a retrospective case series.
OBJECTIVE
CLD is a rapidly progressive and invariably fatal neurodegenerative disorder. We describe clinical and neuroimaging findings in 5 infants with CLD.


METHODS
Retrospective review of medical records of infants with CLD from the past 11 years at our institution was performed. Relevant clinical and demographic data were recorded. Specific attention was directed toward postmortem examination findings and genetic testing. CT and MR imaging results were reviewed.


RESULTS
Five Cree infants were diagnosed with CLD. CT demonstrated bilateral symmetric hypoattenuation of the white matter and globus pallidus. MR imaging demonstrated corresponding T2 hyperintensity in these regions and abnormal signal intensity in the thalami and substantia nigra. Symmetric restricted diffusion in the deep white matter was seen. MRS demonstrated decreased NAA, elevated choline, and the presence of lactate. Postmortem examination in 1 infant showed corresponding poor myelination in the brain stem, cerebellum, deep gray structures, and the cerebral hemispheres. Genetic testing in 2 infants revealed homozygous mutations in the eIF2B5 gene.


CONCLUSIONS
Neuroimaging in CLD is striking and is an important tool in diagnosing CLD. Extensive white matter involvement as well as involvement of the globus pallidus and patchy involvement of the thalami and substantia nigra are characteristic. MRS findings are compatible with destruction of normal brain parenchyma with evidence of anaerobic metabolism in the regions of demyelination. Clinical suspicion of VWM in a Native American infant from this region should prompt the consideration of CLD with appropriate imaging work-up and genetic testing.
Harder
S
S
Department of Radiology, Loma Linda University Medical Center, Loma Linda, CA, USA.
Gourgaris
A
A
Frangou
E
E
Hopp
K
K
Huntsman
R
R
Lowry
N
N
Seshia
S
S
Lemire
E
E
Robinson
C
C
Tynan
J
J
D001259:Ataxia / Q000151:congenital / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D020717:Eukaryotic Initiation Factor-2B / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007198:Indians, North American / Q000235:genetics; D007223:Infant; D056784:Leukoencephalopathies / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009413:Nerve Fibers, Myelinated / Q000000981:diagnostic imaging / Q000473:pathology; D012189:Retrospective Studies; D012525:Saskatchewan; D014057:Tomography, X-Ray Computed; D014157:Transcription Factors / Q000235:genetics
D020717:Eukaryotic Initiation Factor-2B; D014157:Transcription Factors; C101003:ELF2 protein, human