A case report of integrating Chinese and Western medicine: A new era in the treatment of late-onset Krabbe disease.

rationaleKrabbe disease is a rare autosomal recessive genetic disorder for which no specific cure is currently available. In clinical practice, management primarily relies on supportive and symptomatic therapies aimed at alleviating patient suffering. Although the disease remains incurable, the intensity of medical interventions has decreased over time, highlighting the need for innovative and integrated therapeutic approaches. This case study presents a patient who received a combination of Western medicine and traditional Chinese medicine, resulting in a significant reduction in clinical symptoms. PATIENT CONCERNS: The patient primarily presents with unsteady gait, bilateral lower extremity weakness, and nocturnal muscle tremors in both lower limbs. Electromyography examination revealed functional impairment of the deep sensory pathways in both lower extremities. Additionally, the mutation sites identified in this patient are c.1901T>C and c.98T>G; notably, the mutation site c.98T>G has not been previously reported. The therapeutic efficacy of Western medicine for this condition appears to be unsatisfactory. DIAGNOSES: This patient was diagnosed with Krabbe disease.

interventionsOn January 17, 2025, the patient decided to incorporate traditional Chinese medicine into the treatment regimen for concurrent therapy. OUTCOMES: During the concurrent treatment with integrated traditional Chinese and Western medicine, the patient exhibited remission of clinical symptoms and a corresponding improvement in quality of life. LESSONS: The integrated treatment of traditional Chinese and Western medicine offers new therapeutic options for the management of Krabbe disease.