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Participant 106


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 25, with seizures, curvature of the spine (scoliosis), weak and brittle bones (osteoporosis), joint pain, and nontraumatic spine and rib fractures

Date of Report

Jan 28, 2019

Description

As a child, the participant was found to have webbed toes (syndactyly) and flat feet. He had surgery for flat feet when he was 12 years old, which included bone grafts and an Achilles tendon release. Around this time he was also diagnosed with a mild curvature of the spine (scoliosis).

The participant began experiencing seizure-like episodes at age 21 that he reported presented with severe pain originating in his legs. He had normal EEG studies and had recurrent episodes even while on seizure medication. Through a work-up for back pain, he was also found to have an unexplained spine fracture, despite no history of trauma.  He also developed multiple rib fractures.  A DEXA scan revealed low bone density in the spine and bone loss in the neck and hip.

Symptoms / Signs
  • Seizures
  • Multiple rib fractures
  • Spine fractures (vertebral compression fractures)
  • Weak and brittle bones (osteoporosis)
  • Bone loss (osteopenia)
  • Joint pain (arthralgia)
  • Curvature of the spine (kyphosis, scoliosis)
  • Kidney stones (nephrolithiasis)
  • Webbed 2nd and 3rd toes (toe syndactyly)
  • Flat feet (pes planus)
  • Excess calcium in blood (hypercalcemia)
  • Attention Deficit Hyperactive Disorder (ADHD)
Current Treatments
Prior Treatments
  • Alendronate – low bone density
  • Keppra, lamotrigine – seizures
  • Physical therapy
  • Surgery for flat feet
  • Vitamin D therapy – vitamin D deficiency
Considered treatments
Previously Considered Diagnoses
  • Mitochondrial disease
  • Myotonic syndrome
  • Parathyroid tumor (adenoma)
  • Seizure disorder
Other Photographs
Genetic Variants of Interest
Contact

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

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