ALEXANDER'S DISEASE
 
PEDBASE.org - The Pediatric Database - Detailed information of ALEXANDER'S DISEASE

  •  

    ALEXANDER'S DISEASE

     

    DEFINITION:

    A neurodegenerative disorder characterized by degeneration of CNS white matter and specific CNS pathological findings.

    EPIDEMIOLOGY:

    • incidence: rare
    • age of onset:
      • newborn to adulthood (depends on the Form)
    • risk factors:
      • sporadic

    PATHOGENESIS:

    1. Background

    • unknown etiology but thought to involve dysfunctional astrocytes

    PATHOLOGY:

    1. Rosenthal Fibres

    • refractile eosinophilic hyaline bodies found within the cytoplasm of astrocytes particularly in the subpial, subependymal, and perivascular regions
    • required for definite diagnosis but not pathognomonic as seen in other disorders as well, i.e., Neurofibromatosis, MS

    TYPES:

    Type I: Infantile Form
    Type II: Juvenile Form
    Type III: Adult Form

     

    CLINICAL FEATURES:

    1. Type I - Infantile Form

    • onset: mean of 6 months but can range from shortly after birth to 2 years of age
    • most common of the 3 variants and most are male
    • death in 2nd to 3rd years of age

    1. Neurological Manifestations

    • plateauing then delayed psychomotor development
    • movement disorders - spasticity
    • others - mental retardation, seizures, megalencephaly (+/- hydrocephalus) +/- increased ICP

    2. Type II - Juvenile Form

    • onset: 7-14 years of age

    1. Neurological Manifestations

    • plateauing then delayed psychomotor development
    • movement disorders - ataxia, spasticity
    • others
      • bulbar or pseudobulbar dysfunction - dysphagia, facial diplegia, nasal speech, nystagmus, ptosis, tongue atrophy
      • muscle weakness

    INVESTIGATIONS:

    1. Imaging Studies

    1. CT/MRI

    • progressive leukodystrophy
    • attenuation of affected areas initially then later low attenuation of affected areas

    2. Others

    1. EMG

    • delayed conduction velocities

    MANAGEMENT:

    1. Supportive

    • no treatment available
    • treat movement disorders and seizures

     

 

Pediatric Database - ALEXANDER'S DISEASE

 

Pediatric Organization - Pedbase [at] Gmail.com

 
1994 -2007 Pedbase.org 

Powered by Database of Pediatrics- ALEXANDER'S DISEASE