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Participant 131


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Male, age 14 with gross motor and language delay, borderline intellectual disability, and damage to the optic nerve (optic atrophy)

Date of Report

Jun 17, 2019

Description

The participant was delayed meeting some of his developmental milestones. He did not walk independently until 17 months and said his first word at 2 years old. Academic testing revealed borderline intellectual disability (IQ of 73). He received speech therapy and was able to speak more clearly around age 6. He has since been diagnosed with a central auditory processing disorder.

At age 4-5, the participant began to experience lower limb pain that became progressively worse over time. After developing severe headaches at age 8, he was referred for brain imaging, which revealed an enlarged space in the back of the brain (prominence of the retrocerebellar space). This difference can be seen in unaffected individuals. The participant also has several eye differences (optic atrophy, myopic astigmatism, strabismus).

Symptoms / Signs
  • Delayed gross motor development
  • Delayed speech and language development
  • Learning disability (central auditory processing disorder)
  • Borderline intellectual disability
  • Enlarged space in the back of the brain – can be seen in unaffected individuals (prominence of the retrocerebellar space)
  • Headache
  • Damage to the optic nerve (optic atrophy)
  • Crossed eye (strabismus)
  • Nearsighted (myopic) astigmatism
  • Inability to completely empty bladder (urinary retention)
  • Chronic constipation
  • Lower limb pain (bilateral)
  • Increased stiffness of the back of the heel (Achilles tendon contracture)
  • Exercise intolerance
  • Heat intolerance
Current Treatments
  • Benefiber, Bisacodyl, Miralax, Magnesium oxide – constipation
  • Coenzyme Q10
  • Gabapentin
  • Melatonin
  • Nexium
Prior Treatments
  • Optic nerve blocks – headaches
Considered treatments
Previously Considered Diagnoses
  • Limb girdle muscular dystrophy
  • Lyme disease
  • Metabolic condition
  • Microdeletion/duplication condition
  • Mitochondrial disorder
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic change to see if it is causing the participant’s symptoms:

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
de novo
Chr2:20518297
NM_015317.1
c.160+1G>A
N/A
Contact

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