ХАЛҚАРО ИЛМИЙ-АМАЛИЙ КОНФЕРЕНЦИЯ
«ПРЕВЕНТИВ ПЕДИАТРИЯ»-2024
X-ADRENOLEUKODYSTROPHY
Rakhmonova E.Kh., clinic resident; Gulyamova M.K., PhD.
Center for the Development of Professional Qualification of Medical Workers
Relevance:
X-linked adrenoleukodystrophy (X-ALD) belongs to peroxisomal disorders
which damages the central or peripheral nervous system and/or the adrenal cortex. The
pathogenesis is based on mutation in the ABCD1 gene, causing ineffective P-oxidation of fatty
acids following a decrease in the activity of acetyl-CoA, leading to accumulation of very long
chain fatty acids in tissues. Most commonly presents in males.
There are several phenotypes of disease: cerebral adrenoleukodystrophy (CALD),
adrenomyeloneuropathy (AMN) and isolated adrenocortical insufficiency (IAI). CALD is
characterized by progressive behavioral, cognitive, and neurologic deficits. Onset of symptoms
ranges from childhood (3 to 11 years) to adolescence (12 to 18 years) and adulthood.
Purpose:
To study the clinical features of X-ALD in children.
Objective:
To describe the patient with severe childhood cerebral X-ALD, to analyze
clinical criteria, the diagnosis and management.
Materials and methods.
7-year-old child, with a two-month history of decreased visual
acuity, behavioral changes, learning deficits and social isolation which slowly manifested after
catching a cold, sub-febrile temperature lasting several days. On neurological examination, he
presented muscle spasticity, hyperreflexia, static ataxia, gait abnormality, speech delay, dysphagia.
Hyperpigmented lesions on skin folds, hypotonia, weight loss suspects the primary adrenal
insufficiency. Biochemical testing shows abnormally elevated very long- chain fatty acids
(VLCFAs), high C-reactive protein, hyponatremia, low cortisol level.
The diagnosis was verified by MRI examination which showed bilateral white matter
signal alteration in parieto-occipital regions. On molecular genetic testing detected
ABCD1pathogenic gene.
Results:
The patient received targeted therapy of hematopoietic stem cell transplantation
(HSCT) that significantly reduced the progression of disease.
Conclusion:
CALD causes progressive cerebral demyelination and adrenal
insufficiency. Proper clinical approach, biochemical and genetic testing, MRI-findings are
essential in diagnosis. HSCT is the most successful treatment option.
References:
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ХАЛҚАРО ИЛМИЙ-АМАЛИЙ КОНФЕРЕНЦИЯ
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