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Participant 179


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Male, age 13 with a history of seizures, involuntary muscle contractions (dystonia), irregular and involuntary jerky movements on one side of the body (hemiballismus), difficulty walking (gait disturbance), and brain imaging abnormalities caused by a change in the EIF2AK2 gene

Date of Report

May 06, 2021

Description

At 7 months old, the participant had his first seizure. He started taking phenobarbital and did not have additional seizures until age 5.

While weaning off of phenobarbital at age 5-6, the participant began experiencing lower extremity pain and uncontrollable movements. He restarted phenobarbital; however, his symptoms continued to progress. He became unable to walk due to uncontrollable movements in his lower extremities. The participant was eventually admitted to the hospital and phenobarbital was discontinued. He began taking Keppra following a seizure during this hospital admission and his seizures have been well controlled since.

The participant was later noted to have involuntary jerky movements on the left side of his body (hemiballismus) with involuntary muscle contractions (dystonia). These symptoms improved with the use of Sinemet, although he continued to experience episodes of pain and inability to walk. The participant’s abnormal movements appear to be episodic, as they are not present while he is sleeping and worsen when he tries to remain still.

Developmentally, the participant has a history of mild global developmental delay. He currently has an individualized education program (IEP) in place and receives several therapies through his school.

Symptoms / Signs
  • Seizures
  • Irregular and involuntary jerky movements on one side of the body (hemiballismus)
  • Involuntary muscle contractions (dystonia)
  • Difficulty walking (gait disturbance)
  • Abnormal brain structure (abnormal brainstem morphology, abnormality of the basal ganglia)
  • Abnormal brain imaging (abnormal brainstem MRI signal intensity and abnormal basal ganglia MRI signal intensity)
  • Mild global developmental delay
  • Abnormality of the spine (abnormality of the vertebral column)
  • Joints moving beyond normal range (joint hypermobility)
  • Low muscle tone of the trunk (muscular hypotonia of the trunk)
  • Short 5th finger
  • Flat feet (pes planus)
  • Short stature
Current Treatments
  • CBD oil
  • Fluoxetine
  • Keppra
  • Sinemet
Prior Treatments
  • Phenobarbital
Considered treatments
Previously Considered Diagnoses
  • Ataxia conditions
  • Infectious-triggered neurologic conditions
  • Metabolic condition
  • Microdeletion and microduplication syndromes
  • Mitochondrial conditions
  • Post-streptococcal movement disorder
Other Photographs
Genetic Variants of Interest

Clinicians and researchers have identified the following de novo genetic change to be causing the participant’s symptoms.

Gene
Inheritance Pattern
Position (hg19)
Transcript
DNA Change
Protein Change
Autosomal dominant
chr2:g.37374919T>G
NM_002759.2
c.31A>C
p.Met11Leu
Contact

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