Optic Nerve Enlargement in Infantile Form of Krabbe Disease

Castilha-Neto, Dimas; Monteiro, Letícia Fernandes; Peruchi, Mirella Maccarini; Filho, João Moreno; Scarlatelli-Lima, Aline; Lin, Jaime

doi:10.4081/cp.2012.e81

Cited by 2 publications

(1 citation statement)

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“…3 In our patient, the typical neuroimaging features of Krabbe's disease were associated with hypertrophy of the prechiasmatic intracranial segment of the bilateral optic nerves, which is an unusual associated finding. 4 Krabbe's disease usually presents within the first 6 months after birth. Most common clinical features include stiffness, increased tone of the body, fever, hyperirritability regression of milestones, and developmental delay.…”

Section: Case Descriptionmentioning

confidence: 99%

Optic Nerve Enlargement in Krabbe's Disease: A Case Report

Arora¹,

Goindi²

2020

AMEI's Current Trends in Diagnosis &Amp; Treatment

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Krabbe's disease is an autosomal recessive leukodystrophy that presents clinically with increased body tone, regression of milestones, excessive irritability, and inconsolable crying. The pathologic basis of the disease is abnormal myelin metabolism resulting from a deficiency in the galactosylceramidase enzyme with subsequent white matter destruction. Infantile form is the most common subtype, occurring at about 6 months of age. Here, we report a case of Krabbe's disease in which there was associated enlargement of the intracranial optic nerves. The purpose is to acknowledge various imaging features of Krabbe's disease on computed tomography (CT) scan and magnetic resonance imaging (MRI) and to have Krabbe's disease included as one of the differential diagnosis in children with enlargement of the optic nerves. Imaging findings with Krabbe's disease include areas of increased attenuation in the region of thalamus on CT scans, areas of abnormal signal in the white matter on MR images, and white matter volume loss. Hypertrophy of optic nerves is an unusual finding rarely seen in Krabbe's disease. The diagnosis of Krabbe's disease is challenging because of the large number of demyelinating diseases and leukodystrophies as well as the similarities between their clinical and imaging findings. Specific neuroimaging findings and clinicobiochemical correlation may help to establish this diagnosis.

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Section: Case Descriptionmentioning

confidence: 99%