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A 6-month-old presenting with hyperirritability, increased muscular tone, fever, and developmental arrest. Ax , axial; Cor , coronal.
(Courtesy Christopher Filippi, MD.)
This patient had normal development until 6 years of age and then experienced rapid onset of dementia, progressive neurologic decline, and adrenal insufficiency. Ax , axial; FLAIR , fluid attenuated inversion recovery.
This patient had ataxia, spasticity, and deterioration following minor head trauma and a febrile illness. Ax , axial.
This patient had behavioral changes, pyramidal signs, and ataxia. Ax , axial; FLAIR , fluid attenuated inversion recovery.
DESCRIPTION OF FINDINGS
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Case A: MRI reveals symmetric bilateral enlargement of the optic nerves with diffuse, symmetric periventricular white matter T1 hypointensity. Coronal T2-weighted imaging displays confluent, symmetric, deep periventricular hyperintensity that spares the subcortical U fibers.
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Case B: FLAIR and T2 MRI show symmetric, confluent, abnormal, high signal intensity in the parieto-occipital white matter with involvement of the splenium of the corpus callosum. On the postcontrast images, a leading edge of enhancement is identified. Proton magnetic resonance (MR) spectroscopy shows expected marked reduction of N-acetyl-aspartate (NAA) (2.0 ppm) and elevation of choline (3.2 ppm) within the affected region of the brain.
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Case C: An unenhanced axial CT image shows diffuse white matter hypoattenuation. This white matter abnormality is better appreciated on the T2-weighted images, which confirm an abnormal elevated signal in the cerebral white matter. T2-weighted images and a T1 postcontrast image at the level of the diencephalon show preservation of the ependyma with relatively normal size and morphology of the ventricles. No leading edge of enhancement is seen on postcontrast imaging.
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Case D: FLAIR and T2-weighted images show a confluent hyperintense signal in a tigroid pattern in the periventricular and deep white matter of the cerebral hemispheres, with sparing of the subcortical U fibers. Postcontrast imaging reveals no abnormal white matter enhancement. Proton MR spectroscopy shows marked reduction of NAA (2.0 ppm) and elevation of choline (3.2 ppm) within the affected region of the brain. No cerebellar or basal ganglia changes were noted (not shown).
Diagnosis
Case A
Krabbe disease
Case B
Classic childhood cerebral X-linked adrenoleukodystrophy
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