第十一届北京罕见病学术大会暨2023京津冀罕见病学术大会征文(093)

1Department of Neurology， Peking University First Hospital

2Beijing key laboratory of neurovascular disease discovery

Yanyu Lu^1，2， Yun Yuan^1，2*， Zhiying Xie^1，2

Abstract：Phosphoserine aminotransferase deficiency is usually characterized by the manifestations of central nervous system involvement including intractable seizures， hypertonia， acquired microcephaly， and psychomotor retardation. In current study， we describe two juvenile patients who had peripheral neuropathy with ichthyosis from early childhood. a novel pathogenic homozygous variant in PSAT1 gene presented with predominant. Electrophysiological test revealed an axonal sensorimotor neuropathy. Nerve ultrasonography revealed hypertrophy of peripheral nerves. Sural biopsy revealed loss of myelinated fibers. Our study demonstrates that patients with pathogenic PSAT1 variants can present with peripheral neuropathy phenotype.