FIBRINOID LEUKODYSTROPHY

Fibrinoid leukodystrophy, also known as Alexander disease, is a degenerative disorder in which patients gradually lose their capacity to function properly. This implies that ordinary skills like eating and walking deteriorate with time. A spontaneous gene mutation inside the GFAP gene may cause this disease, which means the abnormality arises without being acquired from the parents. 

TYPES

The types of fibrinoid leukodystrophy are the following:

    • Neonatal. This is a relatively unusual type of disorder that might manifest in the first month of birth.
    • Infantile. The infantile type may manifest symptoms between the ages of birth and four years. The majority of infantile-onset diagnoses are made during the first two years of life. 
    • Juvenile. The juvenile type often manifests between the ages of 4 and early adolescence. This is diagnosed in around 14% of children.
  • Adults. This type has the slowest progression and has the least common onset. This accounts for around 6% of all cases.  Because of the nature of Rosenthal fiber manifestation in fibrinoid leukodystrophy, several adult-onset cases are only detected by coincidence after autopsy.

 

SYMPTOMS

Alexander disease symptoms might vary. They are mostly determined by the age of onset. Among the symptoms are:

  • Learning difficulty
  • Spasms leading to eating difficulties
  • Increased head size
  • Brain enlargement
  • Mobility issues
  • Fluid in the brain or hydrocephalus
  • Seizures
  • Delayed development 
  • Speech difficulties
  • Mind regression 
  • Swallowing difficulties
  • Sleep difficulties
  • Unable to cough

DIAGNOSIS

Doctors often diagnose fibrinoid leukodystrophy based on the symptoms described. They will next obtain a blood sample for genetic testing. 

TREATMENT

Although there is no treatment for fibrinoid leukodystrophy, the symptoms are tolerable. Because there is no particular cure for the disease, doctors seek to manage the sickness in a supportive manner. Particularly, the treatment focuses on:

  • Speech therapy
  • General care
  • Dietary needs
  • Antiepileptic medications for controlling seizures
  • Antibiotics for any infections that may arise
  • Physical and occupational therapy

Furthermore, surgery may help to ease some of the symptoms of hydrocephalus. The operation involves putting a shunt into the brain to drain part of the fluid and alleviate pressure on the brain.

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