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Subglottic stenosis associated with Pallister–Hall syndrome

Pediatrics International2024Vol. 66(1), pp. e15816–e15816

Mai Matsuyama, Hisato Kobayashi, Satsuki Nakano, Akihiro Shimotakahara, Mitomo HIRAI

Abstract

A 10-month-old male patient presented with abnormal genitalia and dysphonia at birth. A laryngoscopy performed to investigate the cause of the dysphonia revealed bifid epiglottis. Based on this finding and the presence of abnormal genitalia, hypothalamic hamartoma, imperforate anus, and polydactyly, Pallister–Hall syndrome (PHS) was suspected. Subsequently, a GLI3 gene abnormality was identified, confirming this suspicion. The patient also had multiple anatomical and functional abnormalities characteristics of PHS, which required several surgical interventions. During each operation, the patient experienced perioperative airway problems, such as difficult intubation and significant wheezing after extubation. Although an endotracheal tube compatible with his body size we used, it was still too large for his trachea, and a tube two sizes smaller was required. Despite the short operative time of each surgical treatment, wheezing occurred immediately after extubation and required a few days of intravenous steroids therapy. In addition, when the patient caught a cold, he experienced respiratory distress with significant wheezing, requiring steroid therapy. These findings led to the suspicion of lower airway stenosis. To evaluate the lower airway, chest computed tomography (CT) and bronchoscopy were performed. The former demonstrated subglottic stenosis while the latter revealed a bifid epiglottis, laryngeal cleft, and subglottic stenosis (Figures 1 and 2). Consequently, a tracheostomy was performed to ensure safe, perioperative airway management and to prevent respiratory failure during infections. Laryngeal abnormalities, especially bifid epiglottis, are well-known respiratory tract abnormalities in PHS,1 but lower respiratory tract abnormalities are relatively rare.2 Recognizing lower respiratory tract abnormalities is important for two reasons. First, most PHS patients require multiple surgeries for various organ complications. Abnormality of the lower airway, especially tracheal (subglottic) stenosis, as in the present case, can lead to perioperative airway problems, such as difficult intubation and extubation. Patients with tracheal stenosis require a tube with a small diameter for anesthesia, which in turn may cause insufficient ventilation and difficulties with suction tube insertion. Second, during respiratory tract infections, the tracheal mucosa becomes edematous, and the stenosis deteriorates. If tracheal stenosis is diagnosed in advance, steroid therapy can be administered in the early phase of a respiratory tract infection to prevent respiratory distress. In conclusion, airway abnormalities associated with PHS include not only laryngeal abnormalities but also lower respiratory tract abnormalities although these are rare. Chest CT and bronchoscopy should be considered after diagnosing PHS to evaluate the lower airway to ensure safe airway management during multiple surgeries and to prevent respiratory distress in the event of an infection. M.M. wrote the manuscript. S.N. contributed drafting the work or revising it critically for important intellectual content. A.S. and M.H. contributed for the acquisition, analysis, or interpretation of data. H.K. gave conceptual advice and reviewed the manuscript. All authors read and approved the final manuscript. The authors obtained written informed consent for publication of this case signed by the patient's parents. The authors declare no conflict of interest. A brief clinical history of the patient, his blood glucose levels, and the details of his genetic test results have previously been reported.3, 4 This report did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

Abstract

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