What question did this study set out to answer?

To identify and characterize pulmonary complications, specifically recurrent pneumothorax, in long-term survivors of Menkes Disease.

C62-06 Recurrent Pneumothorax in a Long-Term Survivor of Menkes Disease: An Emerging Pulmonary Complication of Connective Tissue Fragility

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Case highlights recurrent pneumothorax in a long-term survivor of Menkes Disease, indicating the need for increased awareness.

To identify and characterize pulmonary complications, specifically recurrent pneumothorax, in long-term survivors of Menkes Disease.
Case report of a sixteen-year-old male with Menkes Disease, treated with subcutaneous copper injections until age four.
Follow-up imaging included chest X-rays and CT scans to assess pulmonary changes and complications.
The patient experienced an acute right-sided tension pneumothorax requiring chest tube placement and later developed recurrent right pneumothorax.
Chest imaging revealed multiple pulmonary blebs and a large bulla, indicating chronic pulmonary changes associated with Menkes Disease.

Baker et al. (2026) studied this question.

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