ArticleJournal of cardiothoracic surgery2026
Thoracic surgery for spontaneous pneumothorax in a long-term survivor of infantile Krabbe disease: a case report.
Article in Journal of cardiothoracic surgery, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundKrabbe disease is a rare autosomal recessive lysosomal disorder caused by a deficiency of galactocerebrosidase, leading to progressive demyelination and severe neurological impairment. The infantile-onset form has a particularly poor prognosis. Early hematopoietic stem cell transplantation can improve survival, but long-term survival into adolescence is exceedingly rare. Here, we report a case of an adolescent with infantile Krabbe disease who survived long-term after unrelated cord blood transplantation and underwent thoracic surgery for spontaneous pneumothorax. CASE PRESENTATION: A 16-year-old male with infantile Krabbe disease, diagnosed at birth, underwent unrelated cord blood transplantation at 41 days of age. At age 14, he developed a left spontaneous pneumothorax, which initially improved with conservative management. He later presented with recurrent left pneumothorax, unresponsive to two weeks of chest tube drainage. Computed tomography revealed a bulla at the apex of the left lung. Surgery was performed under general anesthesia with one-lung ventilation. Left lung wedge resection was conducted using a stapler, with reinforcement of the staple line using a polyglycolic acid sheet and autologous blood. Postoperative recovery was uneventful, and the patient was discharged on postoperative day 4. No recurrence was observed during six months of follow-up. Pathology revealed a bullous lesion covered by pleura with fibrous thickening and reactive mesothelial hyperplasia.
conclusionsThis case represents the first reported thoracic surgical intervention for spontaneous pneumothorax in a patient with Krabbe disease who achieved long-term survival following unrelated cord blood transplantation. The favorable surgical outcome suggests that conventional surgical principles may be applicable in selected patients, with appropriate modifications based on individual clinical conditions. The relationship between Krabbe disease and the development of pneumothorax remains unclear, and further accumulation of cases is needed to guide perioperative management in this rare population.
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