Longitudinal follow-up reveals obesity and neurodevelopmental issues in PTI-linked SRRM2 disorders in children, suggesting significant health concerns.
Extract Within the chILD-EU register, we are longitudinally following 221 individuals with persistent tachypnoea of infancy (PTI, also referred to as neuroendocrine cell hyperplasia of infancy (NEHI)) diagnosed by a multidisciplinary team specialised in childhood interstitial lung disease (chILD) [1]. Since its description in 2022, SRRM2-haploinsufficiency has been associated with neurodevelopmental delay (NDD), obesity [2–6] and, in at least one case, the PTI/NEHI phenotype [3].
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Rapp et al. (2026) studied this question.
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