SHQ1-related hypomyelinating leukodystrophy: A case report with imaging features and a homozygous variant
SHQ1-related hypomyelinating leukodystrophy is an ultra-rare autosomal recessive disorder affecting the assembly of H/ACA ribonucleoproteins, leading to defective myelin formation and progressive neurological impairment. We report a 3-year-old male with global developmental delay, hypotonia, microce...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-11-01
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| Series: | Radiology Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043325007162 |
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| Summary: | SHQ1-related hypomyelinating leukodystrophy is an ultra-rare autosomal recessive disorder affecting the assembly of H/ACA ribonucleoproteins, leading to defective myelin formation and progressive neurological impairment. We report a 3-year-old male with global developmental delay, hypotonia, microcephaly, and distinctive MRI findings, in whom a homozygous pathogenic SHQ1 variant was identified. This is only the second case reported to show a homozygous variant. This case underscores the importance of neuroradiologic assessment in the diagnosis of rare leukodystrophies, especially in consanguineous populations. |
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| ISSN: | 1930-0433 |