background participants

Participant 195

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 10, with seizures, structural brain abnormalities, and global developmental delay.

Date of Report

Mar 07, 2022


The participant was born full-term through a C-section. Shortly after returning home from the hospital, he began having gastrointestinal-related issues. He was diagnosed with reflux (GERD) and had difficulty with feeding, though these issues were resolved with the use of a specialty baby formula. The participant also had regular constipation and took daily laxatives. He was also noted to have some subtle facial differences (widely set eyes, low nasal bridge).

At 7 months of age, the participant was noted to have developmental delay. He was unable to roll over or sit down, and was enrolled in Early Intervention. 4 months later, he underwent genetic testing which found a duplication of part of chromosome 8 (8p22 duplication).

A year later, the participant underwent a brain MRI and was noted to have a brain malformation (Chiari Malformation type 1). He was asymptomatic at that time. When the participant was 6 years-old, he began complaining of regular headaches, weakness in his right leg, and difficulties with fine motor skills. He underwent another brain MRI which identified a brain tumor (pineal tumor) and fluid build-up in the brain (ventriculomegaly).

The participant promptly underwent surgery to partially remove the pineal tumor. He also underwent a procedure to remove the fluid build-up. The remainder of the tumor was treated through radiation. During this process, the participant was diagnosed with seizures (localization-related epilepsy) and has since been taking a seizure medication.

Currently, the participant continues to receive physical, occupational, and speech therapy. He has not been meeting his expected developmental milestones, but he does well in school despite these challenges.

The participant currently experiences excessive fatigue despite sleeping restfully. He continues to have issues with fine motor skills and is unbalanced when on his feet. He also feels “pins and needles” in his hands and feet, and weakness and numbness in other areas. The participant also has trouble remembering things and has swelling of his optic nerve (left optic disc edema).

Symptoms / Signs
  • Brain abnormality (Arnold-Chiari type I malformation)
  • Brain tumors (supratentorial neoplasm, pineal parenchymal cell neoplasm)
  • Connective tissue tumor (fibroma)
  • Eyes have difficulty working together (impaired convergence)
  • Global developmental delay
  • Range of motion in joints beyond normal limits (generalized joint laxity)
  • Seizures
  • Structural deformities of the femur (Bilateral coxa valga)
Current Treatments
  • Adderall
  • Keppra
  • Melatonin
  • Multivitamin
  • Triamcinolone
Prior Treatments
  • Brain surgery to remove pineal tumor
  • Chiari decompression procedure
  • External ventricle drain (EVD) insertion
  • Laxatives
  • Nutramigen
  • Proton beam radiation therapy for pineal brain tumor
  • Ventriculoperitoneal (VP) shunt insertion
Considered treatments
Previously Considered Diagnoses
  • Microdeletion/microduplication syndromes
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
chr14:g.24030830dup & chr14:g.24033305A>C
c.1753dup & c.1041T>G
p.Met585AsnfsTer12 & p.His347Gln

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


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