Causes
Krabbe’s disease occurs due to a genetic mutation of chromosome 14inherited from both parents. This leads to deficiency of an enzyme called galactocerebrosidase that helps the myelin sheath to develop.
Clinical presentation
Infants are normal at birth. Symptoms begin at the age of 6 months. The child has fever, is extremely irritable, cries a lot and has feeding difficulties. There is slowing of mental and motor development, muscle weakness, spasticity and limb stiffness. The child experiences, difficulty when swallowing and progressive loss of vision and hearing. Eventually the child may develop complications like seizures, deafness, optic atrophy, optic nerve enlargement, blindness and paralysis.
Investigations
A blood test is carried out to look for galactosylceramidase levels. Imaging tests such as CT scan or MRI scan of the brain are performed. Nerve conduction studies are carried out. Eye and ear examinations are performed. Genetic testing can be done on the patient’s blood sample.
Treatment
There is no cure for this disease. The treatment consists of managing the symptoms by means of medications and physical therapy. Patients benefit from stem cell transplantation.
