PMC10288106_01
Patient's facial features (arched and broad eyebrows, long palpebral fissures, eversion of the lower eyelid, depressed nasal tip and short columella) and persistence of fetal fingertip pads, typical of Kabuki syndrome.
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F1
During hospitalization, genetic counseling highlighted the presence of major criteria for clinical diagnosis of KS including moderate intellectual disability, postnatal short stature, skeletal abnormalities, dermatoglyphic anomalies and facial dysmorphism (Figure 1).
Chest HRCT. (A) Images show interstitial lung disease and chronic inflammation. Note the numerous findings, including ground-glass opacity (blue circle), bronchiectasis (white arrow), nodules with blurred edges (green arrows), and regions of air trapping (red circles). (B) Radiological disease improvement with persistence of air-trapping.
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F2
High-resolution computed tomography (HRCT) of the lungs revealed diffuse ground-glass opacities, interlobular septal and bronchial wall thickening, subsolid nodules with blurred edges, peribronchial calcifications and low-attenuation areas due to air trapping (Figure 2A). HRCT of the lungs performed during follow-up demonstrated an important decrease of the previously described opacities and nodules, with the sole persistence of air-trapping (Figure 2B).
Timeline of principal clinical events and therapeutic strategies.
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F3
ITP, which initially was partially responsive to high-dose prednisone treatment, improved after immunoglobulin replacement, with a platelet count durably greater than 70,000/microL; relapses, previously documented at any attempt of corticosteroid withdrawal, became fewer and better controlled with low-dose corticosteroids (Figure 3).