{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T03:16:01Z","timestamp":1790651761730,"version":"4.1.0"},"reference-count":19,"publisher":"SAGE Publications","issue":"7","license":[{"start":{"date-parts":[[2025,12,3]],"date-time":"2025-12-03T00:00:00Z","timestamp":1764720000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>\n                      Saposin B deficiency is an ultrarare lysosomal disorder caused by biallelic mutations in the\n                      <jats:italic toggle=\"yes\">PSAP<\/jats:italic>\n                      gene. Although it clinically resembles classical arylsulfatase A (ARSA)\u2013deficient metachromatic leukodystrophy (MLD), ARSA activity remains biochemically normal. Fewer than 30 genetically confirmed patients have been reported to date.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patient Presentation<\/jats:title>\n                    <jats:p>\n                      We describe 2 pediatric patients with homozygous\n                      <jats:italic toggle=\"yes\">PSAP<\/jats:italic>\n                      gene mutations. Both presented with progressive neurodegeneration, spastic quadriparesis, demyelinating peripheral neuropathy, and radiologic findings consistent with MLD. The first patient harbored a canonical splice-site variant (c.577-1G&gt;T), whereas the second carried a recurrent missense mutation (p.Cys241Ser). Notably, the first patient also had a\n                      <jats:italic toggle=\"yes\">PMP22<\/jats:italic>\n                      duplication consistent with coexisting CMT1A. Despite preserved ARSA activity, both patients fulfilled clinical and imaging criteria for MLD. Abdominal imaging revealed gallbladder sludge in both patients, with additional biliary tract dilation in one. These hepatobiliary findings have not been previously reported in genetically confirmed saposin B deficiency, broadening the known phenotypic spectrum.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      These patients underscore the importance of\n                      <jats:italic toggle=\"yes\">PSAP<\/jats:italic>\n                      gene sequencing in MLD-like presentations with normal ARSA activity and suggest that hepatobiliary involvement may be an underrecognized feature of saposin B\u2013related MLD.\n                    <\/jats:p>\n                  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