PMC10171972_01
CT angiogram sagittal and (b) axial views immediately above and (c) below the manubrial head demonstrate multifactorial airway obstruction. Abnormal manubrium orientation and interposed brachiocephalic vasculature compressing the midtrachea into the c-spine, tracheal tortuosity, and tracheal ring deformity; shortened thorax with upper mediastinal compression; and cervico-thoracic kyphoscoliosis. (d-e) 3D-reconstructed images clearly demonstrate a tight thoracic inlet narrowing (*).
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Postpubertal CT imaging demonstrated characteristically tortuous multilevel airway obstruction with a focal segment of severe collapse at the level of the thoracic inlet (Figure 1).
Clinical photographs at cricotracheal resection: (a) tracheal exposure via limited manubriectomy showed a first bend 36 mm distal to the glottis, leading into a 16 mm tortuosity terminating 28 mm above the carina. (b) The deformed tracheal segment, which had concertinaed leading to omega-shaped tracheal ring buckling, was resected without (c) cardiopulmonary bypass,
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Transcervical surgical resection of the most affected proximal tracheal segment was performed in July 2020 (Figure 2).
Histopathological characterisation of resected trachea: periodic acid Schiff staining showed comparable GAG staining to controls in (a) mucosa, (b) cartilage, and (c) pericartilagenous junctions. Lysosomal LAMP1 staining showed no additional staining intensity in (d) epithelium or (e) chondrocytes, however, (f) chondrocyte lacunae were markedly larger in diameter.
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The resected tracheal segment was analysed by histology and immunohistochemistry for CD68 (macrophage marker) and LAMP1 (lysosomal associated membrane protein 1, overabundant in lysosomal storage disorders) (Figure 3).
Narrative account by parents articulating the changes in quality of life after the procedure. We note that whilst the account is presented verbatim in the parents' own words, all identifying information has been removed.
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He has shown extremely positive scores in all domains of the Glasgow Benefit Inventory (GBI) quality of life score (Figure 4 and Supplementary material available (here)).