Clinical and Neuroimaging Findings of Cree Leukodystrophy: A Retrospective Case Series

S. Harder; A. Gourgaris; E. Frangou; K. Hopp; R. Huntsman; N. Lowry; S. Seshia; E. Lemire; C. Robinson; J. Tynan

doi:10.3174/ajnr.A2108

American Journal of Neuroradiology

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Fig 1.
Infant 2, an 11-month-old Cree girl with hypotonia and developmental regression. A−C, Axial CT images demonstrate diffuse bilateral symmetric hypoattenuation of the cerebral and cerebellar white matter. D−F, Axial T2 images demonstrate bilateral symmetric T2 hyperintensity of the cerebral white matter, substantia nigra (small white arrow), and globus pallidus (large white arrow), with involvement of the thalami (black arrow) and sparing of the caudate nuclei, red nucleus, and putamen.
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Fig 2.
Infant 5, an 8-month-old Cree girl with hypotonia and developmental regression. Axial FLAIR image demonstrates diffusely hypointense white matter with scattered linear and punctate foci of increased signal intensity.
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Fig 3.
Infant 4, an 8-month-old Cree boy with lethargy, hypotonia, and seizures. A and B, Axial b=1000 (A) and ADC maps (B) demonstrate regions of diffusion restriction in the corpus callosum (white arrows) and posterior subcortical U-fibers (small white arrows). C and D, T2 (C) and FLAIR (D) images are provided for comparison.
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Fig 4.
Infant 4, an 8-month-old Cree boy with lethargy, hypotonia, and seizures. Multivoxel PRESS acquisitions (TR/TE = 3000/144 ms). A voxel in the region of the splenium of the corpus callosum demonstrates diminished NAA, minimally elevated choline, and a lactate peak.

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Table 1:

Clinical details of presented cases

Infant	Age at Onset (mo)	Sex	Family History	Disease Duration (Survival)	Neuroimaging Performed	Other Tests
1	7	F	Negative	2 months	MRI	None
2	11	F	Negative	9 days	CT, MRI	Postmortem
3^a	5	F	Negative	5 months	CT, MRI	None
4	8	M	Negative	6 months	CT, MRI, MRS	DNA
5^a	8	F	Positive	12 days	CT, MRI, MRS	DNA

a Denotes siblings.

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Table 2:

Variably hyperintense brain structures on T2-weighted MRI of 5 infants with known CLD

Brain Structure	Infant 1	Infant 2	Infant 3	Infant 4	Infant 5	Total (%)
Putamen	No	No	Yes (patchy)	No	No	1 (20)
Caudate nuclei	No	No	No	No	Yes (patchy)	1 (20)
Thalami	Yes (patchy)	Yes (patchy)	Yes (patchy)	No	Yes (patchy)	4 (80)
Substantia nigra	No	Yes (patchy)	Yes (mild/patchy)	Yes (patchy)	Yes (mild/patchy)	4 (80)

Note:—In all infants, MR imaging demonstrated abnormal signal in the cerebral subcortical white matter, external capsule, extreme capsule, corpus callosum, corticospinal tracts, cerebellum, globus pallidus, midbrain, and pons.