background participants

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.

 

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!

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.