Abstract
Leukodystrophies are a rare group of genetic disorders that affect white matter of the central and peripheral nervous system. We present a clinical case of X-linked adrenoleukodystrophy (X-ALD) in a 9-year old male patient. The patient initially presented with neuropsychiatric symptoms characterized by impulsiveness, hyperactivity, and loss of reading and writing abilities. MRI scan showed a frontal involvement of both cerebral hemispheres. Based on this experience, we recommend that patients with hyperactivity and impulsiveness, and loss of previously acquired abilities such as reading and writing should be thoroughly evaluated to rule out the presence of X-ALD. After making the diagnosis with a complete serum fatty acid profile accompanied by the radiologic findings aforementioned, the patient underwent bone marrow transplant, without a favorable outcome after one year of follow-up.
Highlights
IntroductionIt results from brain injury that occurs during central nervous system development
One study looking at prevalence of low bone mineral density (BMD) in the distal femur of cerebral palsy (CP) patients found up to 77% of patients had z-score lower than -2 [5]
As CP patients enter adulthood they are at increased risk of pathologic fractures
Summary
It results from brain injury that occurs during central nervous system development. Life expectancy in this population is shorter than the overall population but has been increasing over the past few decades. Gastrointestinal reflux, aspiration syndromes, muscle contractures, and seizures are just a few problems associated with CP [1]. These problems follow these patients into their adulthood. In addition to the aforementioned medical complications, CP patients are at increased risk of developing osteoporosis. Osteoporosis leads to increased morbidity and mortality in this population.
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