Optic nerve enlargement and leukodystrophy: an unusual finding of the infantile form of Krabbe disease

Abstract

EspEssamEnto dE vias óptiCas E LEuCodistrofia: um aChado pouCo frEqüEntE da forma infantiL da doEnça dE KrabbE

Original article Diagnostic difficulties in Krabbe disease: a report of two cases and review of literature

“…The findings in the spinal MRI in Patient 1 have already been described, at least in part: diffuse contrast enhancement of the nerve roots in the lumbar and low thoracic spine, although we also found enhancement of the meninges along the spinal cord and on the ventral surface of the medulla oblongata [9].…”

“…This patient presented with another finding typical of Krabbe disease: thickening of the optic chiasm and prechiasmatic sections of the optic nerves. This finding is attributed to the accumulation of globoid cells and is not reported in other leukodystrophies [9,11,28].…”

“…Elevation of myoinositol and choline reflects demyelination, proliferation of glia and astrocytosis. Decrease in N-acetylaspartate is caused by loss of axons [1,9].…”

Optic Nerve Enlargement in Infantile Form of Krabbe Disease

“…4 Great heterogeneity may occur with radiological examinations of patients with KD varying from normal brain magnetic resonance imaging (MRI), 1 with spinal cord enlargement 4 and optic nerve enlargement. 5 We present on a case of infantile KD with MRI showing white matter, thalamic and basal ganglia lesions associated with an enlargement of the optic nerves bilaterally. 5 …”

“…5 We present on a case of infantile KD with MRI showing white matter, thalamic and basal ganglia lesions associated with an enlargement of the optic nerves bilaterally. 5 …”