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SPECIALIST ANSWERS

Question

Any effective therapy for leukodystrophy? except for Lorenzo's oil (in select cases). How to control seizures in them? Most importantly how to apprach to manage and prognosticate such kids? This site does not have single search result on it?

Answer

There are various types of leukodystrophies namely:

The Leukodystrophies (in alphabetical order)
The known leukodystrophies are listed below.

18q Syndrome with deficiency of myelin basic protein

Acute disseminated encephalomyeolitis (ADEM)

Acute Disseminated Leukoencephalitis

Acute Hemorrhagic Leukoencephalopathy

Adrenoleukodystrophy (ALD)

Adrenomyeloneuropathy (AMN)

Aicardi-Goutieres Syndrome

Alexander Disease

Adult-onset Autosomal Dominant Leukodystrophy (ADLD)

Autosomal Dominant Diffure Leukoencephalopathy with neuroaxonal spheroids

Autosomal Dominant late-onset leukoencephalopathy

Childhood Ataxia with diffuse CNS Hypomyelination (CACH or Vanishing White Matter Disease)

Canavan Disease

Cerebral Autosomal Dominant Arteropathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)

Cerebrtendinous Xanthomatosis (CTX)

Craniometaphysical dysplasia with leukoencephalopathy

Extensive Cerebral White Matter abnormality without clinical symptoms

Familial adult-onset leukodystrophy manifesting as cerebellar ataxia and dementia

Familial leukodystrophy with adult onset dementia and abnormal glycolipid storage

Globoid Cell Leukodystrophy (Krabbe Disease)

Hereditary adult onset leukodystrophy simulating chronic progressive multiple sclerosis

Lipomembranous osteodysplasia with leukodystrophy (Nasu Disease)

Metachromatic Leukodystrophy (MLD)

Megalencephalic leukodystrophy with subcortical cysts (MLC)

Neuroaxonal leukoencephalopathy with axonal spheroids

Oculodetatoldigital Dysplasia with cerebral white matter abnormalities

Orthochormatic leukodystrophy with pigmented glia

Ovarioleukodystrophy Syndrome

Pelizaeus Merzbacher Disease (X-linked spastic paraplegia)

Refsum Disease

Sjogren-Larssen Syndrome

Sudanophilic Leukodystrophy

Van der Knaap Syndrome (Vacuolating Leukodystrophy with Subcortical Cysts or MLC)

Vanishing White Matter Disease (Childhood ataxia with diffuse central nervous system hypomyelination, or CACH)

X-linked Adrenoleukodystrophy (X-ALD)

Zellweger Spectrum: Zellweger Syndrome, Neonatal Adrenoleukodystrophy, and Infantile Refsum Disease

Management is supportive. BMT may be useful in X-linked adrenoleukodystrophy, metachromatic leukodystrophy.


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