- Alexanders leukodystrophy
- Megalencephaly in infancy accompanied by progressive spasticity and dementia
Your QuestionMy step-daughter was diagnosed with Alexander Disease less than a year ago. She is 2 years old. We were recently told that the disease is spreading to her pituitary gland. What impact will this have on the progression of the disease?
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The infantile form is the most common type of Alexander disease. It has an onset during the first two years of life. Usually there are both mental and physical developmental delays, followed by the loss of developmental milestones, an abnormal increase in head size, and seizures. The juvenile form of Alexander disease is less common and has an onset between the ages of two and thirteen. These children may have excessive vomiting, difficulty swallowing and speaking, poor coordination, and loss of motor control. Adult-onset of Alexander disease is rare, but has been reported. The symptoms sometimes mimic those of Parkinson’s disease or multiple sclerosis.
Alexander disease is also characterized by abnormal protein deposits known as Rosenthal fibers. These deposits are found in specialized cells called astroglial cells, which support and nourish other cells in the brain and spinal cord.
The United Leukodystrophy Foundation provides additional details related to the symptoms of this condition.
What impact might involvement of Alexander disease in the pituitary play in the disease process?
The case was characterized by early (late infantile) onset with seizures and asymmetric ventriculomegaly. Mild psychomotor delay was noted to be progressive. Over time, hemiparesis (weakness on one side of the body) and spasticity developed. Extracellular aggregates containing glial fibrillary acidic protein (GFAP) - Rosenthal fibers - were identified in neurohypophyseal pituicytes (a pituicyte is a glial cell of the posterior pituitary). The child died at age 12 after an aspiration episode. To read more about the case study, click here.
You can access this and other relevant articles on Alexander disease through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher’s Web site. Using 'Alexander disease[ti]' as your search term should help you locate articles. Use the advanced search feature to narrow your search results. Click here to view a search.
The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link . You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.
- Alexander Disease. United Leukodystrophy Foundation. 2011; http://www.ulf.org/types/Alexander.html. Accessed 9/21/2011.
- Alexander disease. National Institute of Neurological Disorders and Stroke (NINDS). 2010; http://www.ninds.nih.gov/disorders/alexander_disease/alexander_disease.htm. Accessed 9/21/2011.
- Alexander disease. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition=alexanderdisease. Accessed 9/21/2011.