Clinical spectrum of pediatric cases with possible encephalomyeloradiculoneuropathy exhibiting anti-lactosylceramide antibody: A case series of eight patients

Background Anti-lactosylceramide antibodies (anti-LacCer antibodies) were first described in 2014 as disease-specific autoantibodies associated with encephalomyeloradiculoneuropathy (EMRN). Although the first pediatric case was reported in 2022, systematic studies on pediatric patients are lacking. To better understand the clinical spectrum and outcomes in children, we retrospectively analyzed eight pediatric cases of anti-LacCer antibody-positive EMRN treated at our institution. Methods We retrospectively analyzed eight pediatric patients (aged 1–13 years) with anti-LacCer antibody-positive EMRN treated at our institution, focusing on clinical presentation, neuroimaging, and electrophysiological findings. Results Common presenting symptoms were fever, headache, and bladder/bowel dysfunction. None of the patients experienced seizures, limb paralysis, or required respiratory support. Anti-LacCer antibodies were detected in serum and cerebrospinal fluid. Magnetic resonance imaging revealed brain or spinal cord lesions, and nerve conduction studies indicated primarily axonal peripheral neuropathy in most cases. Immunomodulatory treatment led to clinical improvement in all cases, with no relapses observed during follow-up. Conclusions Compared to previously reported cases, our patients exhibited relatively mild disease courses. This raises the possibility that milder pediatric cases may be underdiagnosed. Further accumulation of pediatric data is necessary to clarify clinical spectrum, treatment outcomes, and recurrence risks.