Stüve-Wiedemann syndrome: a rare cause of PPHN

Jin, Jiashun; Rothämel, Paula; Büchel, J; Kammer, Birgit; Brunet, Theresa; Pattathu, Joseph; Flemmer, Andreas W.; Nußbaum, Claudia; Schröpf, Sebastian

doi:10.1055/s-0043-1769432

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“…We wish them all the best. The authors acknowledge the German Association for Neonatology and Pediatric Intensive Care (GNPI) for the opportunity to present this case at the German Congress of Neonatology and Pediatric Intensive Care in June 2023 ( 24 ).…”

Section: Acknowledgmentsmentioning

confidence: 99%

Case Report: Stüve–Wiedemann syndrome—a rare cause of persistent pulmonary hypertension of the newborn

Jin,

Rothämel,

Büchel

et al. 2024

Front. Pediatr.

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IntroductionPersistent pulmonary hypertension of the newborn (PPHN) is a life-threatening condition characterized by hypoxemia due to elevated pulmonary vascular resistance. PPHN commonly arises secondary to various underlying conditions, including infection, meconium aspiration, and respiratory distress syndrome. Management includes pulmonary vasodilators, mechanical ventilation, oxygen supplementation, vasopressors, and volume replacement. Stüve–Wiedemann syndrome (SWS), a rare genetic disorder characterized by bone dysplasia, respiratory distress, hyperthermia, and swallowing difficulties, may present with pulmonary hypertension, indicating a poor prognosis.Case descriptionA term female neonate presented with secondary respiratory failure and severe PPHN of unknown etiology on the second day of life, necessitating intubation. Clinical findings included facial dysmorphia, camptodactyly, skeletal anomalies, and generalized muscular hypotonia. High-frequency oscillation ventilation and surfactant administration yielded marginal improvement. On the third day of life, a severe pulmonary hypertensive crisis necessitated inhaled and systemic pulmonary vasodilators along with volume and catecholamine therapy. Whole exome sequencing revealed a homozygous mutation in the leukemia inhibitory factor receptor (LIFR) gene, consistent with Stüve–Wiedemann syndrome.Discussion/conclusionThe case underscores the importance of considering and prompting evaluation of rare genetic causes in the differential diagnosis of PPHN, especially when other abnormalities are present and conventional therapies prove inadequate. Therapeutic strategies must account for the different pathophysiology of primary PPHN including vascular remodeling, as seen in SWS, which may not respond to pulmonary vasodilators typically employed in secondary PPHN due to vasoconstriction. In this case, the patient responded well to treatment for primary PPHN, but the use of high-frequency oscillation ventilation and surfactant was not helpful.

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Section: Acknowledgmentsmentioning

confidence: 99%