Neuro Diseases: Krabbe Globoid Cell Leukodystrophy

Introduction

Krabbe Globoid Cell Leukodystrophy (KGCL) is an example of white matter diseases of the CNS. CNS, the abbreviation for the Central Nervous System includes the brain & spinal cord so the above disease can involve the brain, or the spinal cord or both of them together but generally the brain is almost always involved with this type of leukodystrophy. Please see that KGCL is an unofficial abbreviation for this condition and used here since the disease name is very lengthy.

For a more elaborative discussion on Leukodystrophies (white matter diseases) including the introduction, general clinical manifestations (symptoms & signs), diagnosis and treatment etc please click on Leukodystrophy .

What causes the KGCL?

It is a genetically mediated degenerative neurological disorder and results due to a mutation of a gene called GALC on chromosome 14. This gene normally codes for an enzyme by name galactocerebrosidase, and due to mutation of this gene a deficiency of this enzyme takes place and results in the above mentioned leukodystrophy.

Types & clinical manifestations

There are infantile, juvenile & adult variants of this disease and infantile type is the commonest & the most typical form. The affected kids are most often normal at birth and the disease starts manifesting after few months of birth. In addition to the usual leukodystrophy manifestations, fever, seizures etc can occur too. To learn more on the usual leukodystrophies you may click on the above provided link.

Diagnosis

The diagnosis is established based on clinical symptoms & signs, biopsy demonstrating multinucleate giant cells called globoid cells, genetic tests, enzyme estimation etc.

Treatment & prognosis of KGCL

Being a degenerative neurological disorder the KGCL patients are expected to progressively deteriorate and the neurological manifestations include progressive dementia, gait difficulties, visual deficits, seizures etc. The treatment is limited to supportive & symptomatic options for example treating the seizures, physical therapy, occupational therapy, speech therapy etc depending upon the deficits of the individual patient. There are no curative treatments available as of now however there are couple of potential curative treatments for the future like bone marrow transplantation, cord blood transplantation etc and currently these treatments are at research level.

A neurologist (pediatric and/or adult) is frequently involved in the care of KGCL patients.



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