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, 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.