Jan 28, 2019

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.

• 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 2^nd and 3^rd toes (toe syndactyly)
• Flat feet (pes planus)
• Excess calcium in blood (hypercalcemia)
• Attention Deficit Hyperactive Disorder (ADHD)

• Alendronate – low bone density
• Keppra, lamotrigine – seizures
• Physical therapy
• Surgery for flat feet
• Vitamin D therapy – vitamin D deficiency