background participants

Participant 118


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

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

 

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

Date of Report

Mar 25, 2019

Description

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:

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Autosomal recessive
chr10:75529751; chr10:75530080
NM_004922.3
c.2840T>C; c.2905C>T
p.F947S; p.R969X
Contact

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

Disclaimer

The information provided here is based on individual patient experiences. This information is not meant to substitute for advice of a qualified health care provider. Please do not use this information to diagnose or develop a treatment plan for a health problem or disease without consulting a qualified health care provider.

Any mention of products or services is not meant as a recommendation of the products or services. Please discuss any options with a qualified health care provider.

Developments in medical research may impact the information that appears here. No assurance can be given that the information in this site will include the most recent findings or developments.

The use of any information provided on this site is solely at your own risk.

Top