The medical images include CT scans, MRI scans, and X-rays, while the timeline diagram outlines the patient's clinical events and treatments. The purpose of combining these images is to provide a comprehensive overview of the patient's medical condition and treatment progress. The primary focus is on the progression and improvement of the patient's condition over time. The medical images are separate and not overlaid. Panel A shows a brain CT scan at 3 months of age with intracranial calcifications indicated by an arrow. Panel B shows brain MRI images at 3 months including T2-weighted, diffusion-weighted imaging (DWI), and apparent diffusion coefficient (ADC) scans demonstrating hypoxic-ischemic encephalopathy with patchy hemorrhagic areas in the left frontal lobe and basal ganglia. Panel C shows T1-weighted and T2-weighted brain MRI images at 9 months revealing atrophy and encephalomalacia in the left frontal lobe and left basal ganglia. Panel D shows follow-up T1-weighted and T2-weighted brain MRI images at 17 months demonstrating absence of active lesions. Panel E shows thoracic CT images at 3 months with bilateral lung opacities consistent with pneumonia. Panel F shows chest X-ray and lung CT images at 5 months demonstrating bilateral alveolar opacities associated with respiratory distress. Panel G shows a chest CT image at 9 months revealing peribronchial thickening with improved lung appearance. Panel H shows a clinical timeline summarizing neurologic and pulmonary manifestations, hospital admissions, imaging findings, and treatments including antibiotics, anticonvulsants, non-invasive ventilation (NIV), bronchoalveolar lavage (BAL), methylprednisolone, oral prednisolone, and ruxolitinib therapy from 1.5 to 17 months of age.
Clinical course of and treatment response of P1. Timeline of key clinical events, imaging findings, and therapies from 1.5 to 17 mo of age. (A) Intracranial calcifications on brain CT scan (indicated by an arrow). (B) Brain MRI at 3 mo of age: T2-weighted image (left), diffusion-weighted imaging (DWI, middle), and apparent diffusion coefficient (ADC, right) showing hypoxic-ischemic encephalopathy with areas of patchy hemorrhage in the left frontal lobe and basal ganglia. (C) Brain MRI (T1-weighted and T2-weighted) performed at 9 mo of age showing atrophy and encephalomalacia in the left frontal lobe and left basal ganglia. (D) Follow-up brain MRI at 17 mo of age showing no active lesions. (E) Thoracic CT showing lung opacities compatible with pneumonia. (F) Bilateral alveolar opacities demonstrated on chest x-rays and lung CT scan. (G) Peribronchial thickening observed on chest CT scan. (H) Both neurologic and pulmonary manifestations improved following initiation of ruxolitinib therapy. Treatment included noninvasive ventilation (NIV), antibiotics, BAL, and high-dose methylprednisolone followed by oral prednisolone. After confirmation of a STAT2 p.R148Q variant, ruxolitinib was initiated. Follow-up showed clinical improvement with stabilization of oxygen saturation, resolution of respiratory symptoms, improvement on lung CT, and absence of active CNS lesions on brain MRI by 17 mo. PICU, Pediatric Intensive Care Unit.