background participants

Participant 118

On this page, you will find information about a UDN participant.

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Female, age 18, with seizures, severe intellectual disability, regression, and abnormal brain findings

Date of Report

Mar 25, 2019


Shortly after birth, the participant had her first seizure. She spent 3 weeks in the neonatal intensive care unit (NICU) and was found to have low muscle tone (hypotonia), bleeding inside the skull (intracranial hemorrhage), and cataracts. She also had an enlarged liver and spleen (hepatosplenomegaly), red spots on her skin (petechiae), and required a platelet infusion within a week after birth.

Her seizures continued despite many therapies, including medications, vagus nerve stimulation, and a ketogenic diet. At 2 years old, she had a G tube placed and has been taking all of her food, water, and medications through the G tube since.

Currently the participant is 18 years old and is nonverbal. She is unable to sit up unsupported or grasp objects. She began to babble at 6 months but has never had any words. She has had two periods of major regression after intense seizure activity when she was around 2 and 8 years old.

Symptoms / Signs
  • Severe global developmental delay
  • Severe intellectual disability
  • Seizures
  • Brain damage (profound static encephalopathy)
  • Abnormal brain findings (hypoplasia of the corpus callosum, cerebellar atrophy, cerebral atrophy, atrophy affecting the brainstem)
  • Bleeding inside the skull (intracranial hemorrhage)
  • Cross-eyed (strabismus)
  • Cataracts (bilateral)
  • High palate
  • Dental crowding
  • Trouble breathing (respiratory insufficiency due to muscle weakness)
  • Sleep apnea
  • Increased curvature of the spine (scoliosis)
  • Inability to straighten limbs (flexion contracture)
  • Acid reflux disease (gastroesophageal reflux)
  • Twisting of intestines (malrotation of small bowel)
  • Liver and spleen enlargement (hepatosplenomegaly)
  • Low muscle tone (generalized hypotonia)
  • Absent reflexes (areflexia)
Current Treatments
  • G-tube feeding
  • Vagus nerve stimulation – seizures
Prior Treatments
  • Ketogenic diet, steroid infusions – seizures
  • Occupational therapy – motor skill development
  • Speech therapy – language development
Considered treatments
Previously Considered Diagnoses
  • Cockayne syndrome
  • Congenital disorder of glycosylation
  • Deletion/duplication disorder
  • Metabolic condition
  • Mitochondrial disorder
  • Rett syndrome
  • Single gene 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:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
Autosomal recessive
chr10:g.75529751T>C & g.75530080C>T
c.2840T>C & c.2905C>T
p.Phe947Ser & p.Arg969Ter

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


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