Isolated pyramidal tract impairment in the central nervous system of adult-onset Krabbe disease with novel mutations in the GALC gene.

[krabbe disease]

This report describes a 60 -year -old female patient with Krabbe disease who presented with slowly progressive gait disturbance due to mild spastic paraplegia . Brain magnetic resonance imaging showed high -intensity lesions along the upper parts of the bilateral pyramidal tracts in fluid-attenuated inversion recovery images . Central motor conduction time was prolonged both in the upper and the lower extremities , while central sensory conduction time was normal . The reduced lymphocyte galactocerebrosidase (GALC ) activity and two novel mutations in the GALC gene , p .G 496 S and p .G 569 S , proved the diagnosis of Krabbe disease . Our findings show that adult-onset Krabbe disease is characterized by isolated pyramidal tract impairment in the central nervous system , both neurophysiologically and radiologically .

Diseases
Validation

Diseases presenting "year-old female patient" symptom

adrenal incidentaloma

aniridia

benign recurrent intrahepatic cholestasis

cowden syndrome

cushing syndrome

epidermolysis bullosa simplex

esophageal squamous cell carcinoma

holt-oram syndrome

krabbe disease

lamellar ichthyosis

liposarcoma

lymphangioleiomyomatosis

malignant atrophic papulosis

monosomy 21

neuralgic amyotrophy

oculocutaneous albinism

oligodontia

oral submucous fibrosis

proteus syndrome

pyomyositis

sneddon syndrome

thoracic outlet syndrome

triple a syndrome

von hippel-lindau disease

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