Donate
background participants

Participant 024


developmental delay, seizures
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. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.

 

Female, age 2, with developmental delay, seizures, vision loss (cortical visual impairment) and a small head size (microcephaly)

Date of Report

Jun 07, 2017

Description

At 3 months, the patient began having seizures (generalized tonic and complex partial seizures), which was confirmed by EEG. A head CT at this time was normal. An MRI at 7 months showed a small head size (microcephaly) and underdeveloped nerve fibers joining the hemispheres of the brain (hypoplasia of the corpus callosum). At 13 months, the patient had a vagal nerve stimulator placed to help resolve the seizures.

The patient also has vision loss (cortical visual impairment), early breast development (premature thelarche), and a G-tube for feeding.

Developmentally, the patient is able to roll over and sit. Before her seizures started, she was able to coo, laugh, and smile. Over time, her development has regressed. Currently she does not talk, smile, or walk.

Symptoms / Signs
  • Developmental delay
  • Seizures (generalized tonic and complex partial seizures)
  • Underdeveloped nerve fibers joining the two hemispheres of the brain (hypoplasia of the corpus callosum)
  • Small head size (microcephaly)
  • Vision loss (cortical visual impairment)
  • Abnormal eye movement
  • Early breast development (premature thelarche)
  • Abnormal movement
Current Treatments
  • Vagal nerve stimulator- seizures
  • Levetiracetam, phenobarbital, lacosamide- seizures
  • G-tube- feeding difficulties
Prior Treatments
  • Felbamate, clonazepam – seizures
Considered treatments
Previously Considered Diagnoses
  • Microdeletion/duplication syndrome
  • Mitochondrial condition
  • Rett syndrome
  • Rett-like conditions
Other Photographs
Genetic Variants of Interest
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