background participants

Participant 191


On this page, you will find information about a UDN participant.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

 

Female, age 5, with Noonan syndrome, systemic-onset juvenile idiopathic arthritis, and multiple congenital anomalies.

 

Date of Report

Nov 22, 2021

Description

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.

Symptoms / Signs
  • 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
Current Treatments
  • 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
Prior Treatments
  • Tocilizumab (arthritis)
Considered treatments
Previously Considered Diagnoses
  • Chromosome abnormality
  • DiGeorge syndrome
  • B-positive severe combined immunodeficiency
  • Atypical Kawasaki disease
  • Dysautonomia
  • Congenital hepatic fibrosis vs. result of early hospitalizations/surgeries
  • Ketotic hypoglycemia
  • Juvenile idiopathic arthritis
  • Noonan syndrome
  • Lung disease of prematurity
  • Stroke-related epilepsy
Other Photographs
Genetic Variants of Interest

Clinicians and researchers have identified the following genetic change to be causing some of the participant’s symptoms:

Gene
Inheritance Pattern
Position (hg19)
Transcript
DNA Change
Protein Change
Autosomal dominant
chr11:g.14380343 _14380351dup
NM_012250.5
c.70_78dup
p.Gly24_Gly26dup
Contact

If this participant sounds like you or someone you know, please contact us!

Disclaimer

The information provided here is based on individual patient experiences. This information is not meant to substitute for advice of a qualified health care provider. Please do not use this information to diagnose or develop a treatment plan for a health problem or disease without consulting a qualified health care provider.

Any mention of products or services is not meant as a recommendation of the products or services. Please discuss any options with a qualified health care provider.

Developments in medical research may impact the information that appears here. No assurance can be given that the information in this site will include the most recent findings or developments.

The use of any information provided on this site is solely at your own risk.

Top