Background: Melnick-Needles syndrome (MNS) is a rare X-linked genetic disorder caused by mutations in the FLNA gene, characterized by distinctive craniofacial and skeletal dysmorphisms, hearing loss, and urological anomalies. The associated upper airway abnormalities, including retrognathia and tracheomalacia, present a high-risk scenario for general anesthesia.
Case presentation: We report the case of an 8-year-old girl with genetically confirmed MNS scheduled for urgent transurethral stenting due to obstructive hydronephrosis and recurrent sepsis. Her clinical features included severe retrognathia (Mallampati IV), scoliosis, and critical tracheal stenosis identified on CT. A tailored anesthetic strategy focused on preserving spontaneous ventilation without endotracheal intubation. An initial awake-sedation attempt was unsuccessful. General anesthesia was therefore induced and maintained with sevoflurane via facemask, supplemented with intravenous esketamine for analgesia. During the procedure, transient respiratory depression required brief manual assistance. The planned ureteroscopic stenting failed, leading to a conversion to an ultrasound-guided nephrostomy under local infiltration anesthesia. Spontaneous ventilation was maintained throughout the 60-min surgery, and no airway collapse occurred. The patient emerged smoothly with transient hypercapnia that resolved with assisted ventilation.
Conclusions: MNS is a multisystem disorder that complicates anesthetic management, primarily due to upper airway obstruction and tracheomalacia. When feasible, maintaining spontaneous ventilation is crucial to avoid airway catastrophe. This case highlights the importance of individualized, minimally invasive airway strategies in children with MNS.
Supplementary Information: The online version contains supplementary material available at 10.1186/s12871-026-03826-8.
Keywords: Airway management; Melnick-Needles syndrome; Pediatric anesthesia; Rare disease; Tracheomalacia.