Article Figures & Data
Figures
- Fig 1.
Patient 1, who had GM1.
A and B, In vivo transverse T2-weighted image (A) and postmortem coronal 3D FLAIR image (B) show a diffuse and symmetric increase in signal intensity in the cerebral white matter, with radial stripes of low signal intensity (arrows).
C and D, Photomicrograph (hematoxylin and eosin, original magnification ×1.5) of a matched histopathologic section (C) and magnified view (Luxol fast blue, original magnification ×75) of the small box in C (D) reveal perivenular areas of relatively normal density of myelin sheaths (blue in D) in the hypomyelinated central white matter (top left and bottom right in D); these areas corresponding to the hypointense stripes on MR imaging.
- Fig 2.
Patient 2, who had MLD.
A and B, In vivo transverse T2-weighted image (A) and postmortem coronal 3D FLAIR image (B) show a hyperintense centrum semiovale with radially oriented stripes of hypointense signal intensity (arrows).
C, Photomicrograph (Luxol fast blue, original magnification ×1) demonstrates a profound absence of myelin throughout the centrum semiovale with some sparing of the areas of subcortical U fibers.
D and E, Magnified views of hematoxylin and eosin (D, original magnification ×37.5) and Luxol fast blue (E, original magnification ×75) stains of the small box in C show that the hypointense linear bands correspond with numerous eosinophilic granule containing glial cells and macrophages (arrowheads) around venules (v) and myelin (blue stripes in E).
- Fig 3.
Patient 3, who had GLD.
A and B, In vivo transverse T2-weighted image (A) and postmortem coronal 3D FLAIR image (B) show an atrophic brain with hyperintense white matter and linear areas of hypointense signal intensity, extending from the cerebral cortex to the ventricular wall (arrow).
C and D, Photomicrograph of hematoxylin and eosin stain (C, original magnification, ×1.5) and magnified view of CD68 stain (D, original magnification ×37.5) of the small box in C show perivascular clustering of multinucleated globoid cells (arrowheads, v = venule).
E, MBP stain (original magnification ×75) shows almost complete absence of myelin sheaths (arrow).
Tables
Summary of clinical characteristics of patients
Patient/Sex Disorder Age at MR Imaging Neurologic details 1/M Infantile GM1 0 y 7 mo Presented at age 5 mo with a failure to thrive; progressively deteriorated, with hypotonia, poor head control and poor visual contact, and died at age 13 mo 2/F MLD 17 y 0 mo Symptoms started at age 16 y, with walking and learning problems; died 1 mo after bone marrow transplantation at age 18 y 3 mo 3/F GLD 0 y 6 mo, 0 y 11 mo Feeding difficulties and poor visual response at age 3 mo; developed hypertonia, increased irritability and epilepsy; condition deteriorated rapidly and died at 1 y of age
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