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Summary
KRABBE DISEASE
LEUKODYSTROPHY, GLOBOID CELL TYPE
245200
OMIM = Online Medalian Inheritance of Men
487
14q31.3
  • bone marrow transplantation
  • hemopoietic stem cell transplantation
  • morphine
  • no specific treatment
  • supportive/symptomatic therapy
rare (1:100.000)
high frequency in Israel, 1:50000 in Sweden
autosomal recessive
symptoms
blindness, visual loss, visual impairment
cerebral atrophy
defect of deep tendon reflexes
early death
failure to thrive
feeding difficulties, poor feeding
fever
hearing defect, deafness
hyperacusis
hypertonia, spasticity
irritability
mental retardation
motor retardation
onset, infancy
opisthotonus
optic atrophy
peripheral neuropathy
progressive neurologic defect
respiratory insufficiency
seizures
vomiting
laboratory finding
Galactosylceramidase 100.00decreased activityfibroblasts
Galactosylceramidase 100.00decreased activityleucocytes
Protein, total, spinal fluid 10.0030.00increasedcerebrospinal fluid
SEP (sensory evoked potentials), abnormal -
CT, brain, abnormalities -
MRI, brain, white matter abnormalities -
EMG abnormalities -
VEP (visual evoked potentials), abnormal -
AEP (auditory evoked potentials), abnormal -
Literature
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