Nov 22, 2021

The participant was diagnosed with a heart malformation (hypoplastic left heart) prenatally. She was born full-term at 37 weeks. After she was born, she had a blood clot that traveled to her lungs (pulmonary embolism) and a stroke. She subsequently developed seizures that are well-controlled with medication.

As a toddler, the patient had recurring fevers, rashes, and inflammation throughout her body. She was found to have elevated liver enzymes (with hepatic fibrosis on biopsy). Later, she was diagnosed with juvenile arthritis. After genetic testing, she was diagnosed with Noonan syndrome caused by a variant in the RRAS2 gene. However, it is unclear if her autoinflammation and liver disease are connected to her Noonan syndrome or if these have different causes.

• Systemic onset juvenile arthritis
• Cardiovascular anomalies (atrial septal defect, ventricular septal defect, stroke, subvalvular aortic stenosis)
• Seizures
• Abnormal facial shape
• Downslanted palpebral fissures
• Small jaw (micrognathia)
• Thick vermilion border
• Wide-set eyes (Hypertelorism)
• Low-set, posteriorly rotated ears
• Blood clot in the lung (pulmonary embolism)
• Chronic lung disease
• Lymphatic fluid buildup in chest (chylothorax)
• Liver damage (hepatic fibrosis)
• Global developmental delay
• Metabolic anomalies (fever, increased circulating ferritin, ketotic hypoglycemia)
• Low white blood cell count (lymphopenia)
• Systemic autoinflammation

• Prednisolone, hydroxychloroquine, meloxicam, Xeljanz, leflunomide (arthritis)
• Oxcarbazepine, guanfacine (seizures)
• Ursodiol, bethanechol (hepatic fibrosis)
• Aspirin (blood thinner)
• Prevacid
• Norditropin (growth hormone treatment)
• Caltrate
• Culturelle
• Multivitamin + Vitamin C
• Zyrtec

• Tocilizumab (arthritis)