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Diagnosis, treatment and genetic analysis of a case of skin hyperpigmentation as the only manifestation with X-linked adrenoleukodystrophy.
- Source :
-
Yi chuan = Hereditas [Yi Chuan] 2022 Oct 20; Vol. 44 (10), pp. 983-989. - Publication Year :
- 2022
-
Abstract
- X-linked adrenoleukodystrophy (X-ALD) is an inherited disease caused by a mutation in the adenosine 5'-triphosphate binding cassette subfamily D member 1 (ABCD1) gene encoding a peroxisomal transmembrane protein, which has various clinical manifestations and a rapid progression from initial symptoms to fatal inflammatory demyelination. Therefore, identification of early clinical symptoms and further early diagnosis as well as treatment can effectively prevent disease development. In this study, we reported the laboratory and radiographic features in a rare case of X-ALD with 3-year skin hyperpigmentation as the only manifestation. And the ABCD1 gene was sequenced for the patient and his parents by a high-throughput sequencing method. The results of laboratory examination showed adrenocortical hypofunction and increased serum concentrations of very long-chain fatty acids. Brain MRI showed no obvious abnormal signal shadow. A hemizygous mutation of c.521A>C was detected in the ABCD1 gene of the patient, and his mother has the same site heterozygous mutation. Therefore, this patient was diagnosed as "X-linked adrenoleukodystrophy". During the follow-up, adrenocortical hypothyroidism did not improve, and brain MRI showed few high-FLAIR signals in the white matter of the right radial corona and left parietal lobe, suggesting possible brain injury. X-ALD patients with only skin manifestations but no neurological abnormalities are easily neglected, but early diagnosis and early intervention are important ways to delay the progression of this disease. Therefore, genetic testing for early X-ALD is recommended in all male children patients with skin pigmentation as the sole clinical presentation and subsequent diagnosis of adrenal hypofunction.
- Subjects :
- Child
Humans
Male
ATP Binding Cassette Transporter, Subfamily D, Member 1 genetics
Genetic Testing
Magnetic Resonance Imaging adverse effects
Magnetic Resonance Imaging methods
Adrenoleukodystrophy diagnosis
Adrenoleukodystrophy genetics
Adrenoleukodystrophy complications
Hyperpigmentation etiology
Hyperpigmentation genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0253-9772
- Volume :
- 44
- Issue :
- 10
- Database :
- MEDLINE
- Journal :
- Yi chuan = Hereditas
- Publication Type :
- Academic Journal
- Accession number :
- 36384734
- Full Text :
- https://doi.org/10.16288/j.yczz.22-187