background participants

Participant 210

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. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.


Male, age 3, with heart abnormalities, global developmental delay, brain MRI abnormality, and seizures (infantile spasms) that are now well treated and controlled.

Date of Report

Feb 23, 2023


The participant was born at full term via a scheduled c-section due to his mother’s history of Hodgkin’s Lymphoma. He was transferred to the NICU due to poor feeding, vomiting, and a heart murmur. His parents also noted that he had a high-pitched cry.

At 4 days old an echocardiogram revealed several heart abnormalities (bicuspid aortic valve, mild aortic stenosis, and dilated ascending aorta). The participant was also diagnosed with increased thickness of the heart (hypertonic cardiomyopathy) and was treated with Propranolol.

At 1 month of age, a brain MRI revealed a collection of fluid in the brain (subdural hygromas) which resolved by 6 months of age. A region of the brain was also noted to be thinner than expected (thinning of the corpus callosum).

At 6 months of age, the participant was diagnosed with a small head size (microcephaly) and seizures (infantile spasms). His mother described the seizures as leaning forward, clenching hands, and eyes rolling to the back of his head every 11 seconds. The participant tried several medications (prednisolone, Topamax, Trileptal, and Sabril) to treat his seizures but none were successful. Later, a 30-day injection of adrenocorticotropic hormone was successful in controlling his seizures. His last reported seizure was in January 2021.

At 28 months the participant was diagnosed with visual impairment caused by the brain (cerebral visual impairment).

The participant rolled over at 1 year of age and sat up at 2 years of age. He was unable to stand or walk at 2.5 years of age. He participates in physical therapy, occupational therapy, speech therapy, feeding therapy, and vision therapy.

Symptoms / Signs
  • Seizures (infantile spasms)
  • Global developmental delay
  • Decreased thickness of a part of the brain (Thin corpus callosum)
  • Small head size (Microcephaly)
  • Eye abnormalities/blindness (Cerebral visual impairment)
  • Increased thickness of the heart (Hypertrophic cardiomyopathy)
  • Missing cusp in the aortic valve (Bicuspid aortic valve)
  • Bulging, weakened wall of the aortic root (Aortic root aneurysm)
  • Severe acid reflux (Gastroesophageal reflux)
Current Treatments
  • Adrenocorticotropic hormone injection
  • Feeding therapy
  • Miralax
  • Nexium
  • Occupational therapy
  • Periactin
  • Physical therapy
  • Speech therapy
  • Vision therapy
  • Vitamin D
Prior Treatments
  • Prednisone
  • Propranolol
  • Sabril
  • Topamax
  • Trileptal
Considered treatments
Previously Considered Diagnoses
  • Congenital Disorders of Glycosylation
  • Fatty acid oxidation disorders
  • Group B strep at birth
  • Heart muscle syndromes (cardiomyopathy)
  • Metabolic disorders
  • Mitochondrial disorders
  • Microdeletion/microduplication syndromes
  • Muscular diseases
  • Organic acid metabolism disorders
  • Parasite infections
  • Pancreatitis
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
chr2:g.168115691G>A & g.168100020G>T
NM_001079810.3 & NM_001199144.2
c.2635G>A & c.1452G>T
p.Asp879Asn & p.Gln484His
Autosomal recessive
chr9:g.111745531_ 111745535delinsGTAT
Autosomal recessive
Autosomal recessive

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


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.