background participants

Participant 184


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 24 with global developmental delay, intellectual disability, brain abnormality (Arnold-Chiari type I malformation), overactive thyroid (hyperthyroidism), and brittle bones (osteopenia)

Date of Report

Jun 15, 2021

Description

At age 5, the participant underwent a procedure to ease the symptoms of her brain abnormality (Arnold-Chiari type I malformation). She was later found to have a fluid-filled cyst in her spinal cord (syrinx), which has caused back pain. She was also noted to have delayed speech and motor development as well as intellectual disability.

At age 7, heart abnormalities (mitral valve prolapse with regurgitation) were identified and, at age 9, the participant was noted to have differences in her facial features (narrow mouth, high palate, upslanted eyes, widely set eyes). She also has a history of overactive thyroid (hyperthyroidism) and brittle bones (osteopenia).

At age 18, the participant had her gallbladder removed through a cholecystectomy procedure, and now has fatty liver disease.

More recently, the participant began experiencing seizures, which seem to intensify the pain in her joints and her headaches. She underwent an EEG which was normal. She was also diagnosed with cyclic vomiting syndrome and a nerve abnormality (acute cutaneous nerve entrapment syndrome).

Symptoms / Signs
  • Delayed speech and language development
  • Motor delay
  • Brain abnormality (Arnold-Chiari type I malformation)
  • Nerve abnormality (acute cutaneous nerve entrapment syndrome)
  • Narrow mouth
  • High palate
  • Upslanted eyes (upslanted palpebral fissure)
  • Widely set eyes (hypertelorism)
  • Difficulty breathing while asleep (obstructive sleep apnea)
  • Overactive thyroid (hyperthyroidism)
  • Low-set nipples
  • Low muscle tone (hypotonia)
  • Flexible joints (joint laxity)
  • Brittle bones (osteopenia)
Current Treatments
Prior Treatments
  • Chiari-1 malformation decompression
  • Cholecystectomy
  • Tonsillectomy/adenoidectomy
Considered treatments
Previously Considered Diagnoses
  • Chromosomal abnormalities
  • Collagen disorders
  • Fibrillin-1 syndromes
  • Loeys-Dietz syndrome
  • Metabolic disorders
  • Microdeletion/microduplication syndromes
  • Mitochondrial disorders
  • Myotonic dystrophy
  • Smith-Magenis syndrome
    Williams syndrome
  • Velo-cardio-facial syndrome
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following de novo genetic change to see if it is causing the participant’s symptoms:

Gene
Inheritance Pattern
Position (hg19)
Transcript
DNA Change
Protein Change
Unknown
chr8:g.25765991T>A
NM_022659.3
c.632A>T
p.Gln211Leu
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