| Abstract [eng] |
X–linked adrenoleukodystrophy is a rare peroxisomal disease inherited with X chromosome. The disease damages tissues in the brain and adrenal glands. X–linked adrenoleukodystrophy is caused by a mutation in the ABCD1 gene which impairs a degradation of very long chain fatty acids. The incidence of X–linked adrenoleukodystrophy is estimated to be around 1 in 20 000 individuals worldwide. Most severe form is childhood cerebral X–linked adrenoleukodystrophy which appears between ages of 3 and 10. The diagnosis is made through blood tests that measures the levels of very long chain fatty acids and magnetic resonance imaging with typical lesions. In early stages the main treatment is the allogeneic stem cell transplantation. Here is a case report of a 7 years old boy who was admitted to hospital due to episodes of strabismus, behavioural changes, auditory processing problems and walking difficulties. During the assessment it was discovered that his grandmother had a history of uncertain demyelinating disorder. The patient had elevated concentrations of very long chain fatty acids and specific changes in magnetic resonance imaging, scoring 16 out of 34 points on the Loes scale, which was indicative of X-linked adrenoleukodystrophy. Due to advanced neurologic impairment, this patient did not undergo allogeneic stem cells transplantation and instead received supportive care. |
