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Participant 158


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Female, age 5 with seizures (status epilepticus), developmental regression, and eye abnormalities (strabismus, esotropia)

Date of Report

Mar 04, 2020

Description

The participant was born full-term after an uncomplicated birth. At 10 months, her left eye began to turn inward at times (intermittent esotropia), which progressed to her right eye and became constant. She had surgery at 1 year old, and immediately after was noticed to have abnormal eye movements (downbeating nystagmus). One month after surgery, she developed additional abnormal eye movements (impaired upgaze).

At 13 months old, the participant’s parents became concerned about speech and language delay. At 14 months she had her first MRI due to Nystagmus noted after eye muscle surgery.  This MRI resulted in restricted diffusion and abnormal signals.  A few months later, she developed sleep and sensory issues and her motor skills plateaued.

At 22 months old she experienced an episode of unresponsiveness. She was found to have too much water in her body (caused by syndrome of inappropriate antidiuretic hormone secretion (SIADH)), which resulted in too little sodium in her blood (hyponatremia).  At this time, insomnia was a major problem.  A few weeks later, she experienced a seizure and changed in behavior, and an EEG identified seizures (status epilepticus). Her MRI revealed volume loss. The participant was placed in a coma, and experienced severe regression and spasticity following her recovery.

Symptoms / Signs
  • Developmental regression
  • Seizures (status epilepticus)
  • Sleep disturbance
  • Eye abnormalities (strabismus, esotropia)
  • Abnormality of eye movements (impaired upgaze – features of Parinaud syndrome)
  • Muscle spasticity (spastic tetraparesis)
Current Treatments
  • Clonazepam, keppra, ketogenic diet,  onfi (clobazam), – seizures
  • CBD and THC oil
  • Ferrous sulfate (iron)
  • Potassium citrate
  • Ubiquinone (coQ10)
  • Vitamins
Prior Treatments
  • Baclofen – muscle spasticity
  • Lorazepam, phenobarbital – seizures
  • Levocarnitine
  • Melatonin – sleep
  • Omeprazole, Ranitidine – gastroesophageal reflux disease
  • Simethicone
  • Thymine
Considered treatments
Previously Considered Diagnoses
  • Channelopathy
  • Metabolic disorder
  • Mitochondrial disorder (Leigh syndrome)
  • Niemann-Pick disease type C
  • Pelizaeus-Merzbacher disease
  • Sphingolipid/lysosomal disorder
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Unknown
Chr2:15747320; Chr2:15736850
NM_004939
c.839C>G; c.133-8T>C
p.T280R; N/A
Unknown
Chr19:39423147
NM_021107
c.224C>T
p.S75L
Contact

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

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