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Participant 180


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Female, age 12 with a history of seizures, brain imaging abnormalities, behavioral features (ADHD, hallucinations, and sleepwalking), mild to moderate bilateral sensorineural hearing loss, and distinctive facial features

Date of Report

May 12, 2021

Description

On prenatal ultrasound, the participant was found to have an increased measurement at the back of the neck (thickened nuchal fold), an abnormally bright spot on the bowel (echogenic bowel), and excess fluid in her kidneys. Although the pregnancy was classified as high risk due to these ultrasound findings, the participant was born at full term with no complications.

Following birth, the participant was noted to have differences in her physical features (large eyes and a wide pupillary distance, small lower jaw/large overbite, low back hairline, coarse, brittle hair, low set ears, and a wide neck). Her development was delayed, as she walked at 19 months and grew more slowly than expected. At 4 years old, she was evaluated for Turner syndrome.

At 8 years old, the participant had her first seizure event with an abnormality in brain electrical activity (EEG abnormality). This led to a brain MRI revealing extensive white matter changes that have been characterized as either bilateral cysts or fluid filled spaces in the brain (perivascular spaces). Her last known seizure occurred at 9 years old. She is not on any anti-seizure medications but is using CBD oil daily at bedtime.

At 8 years old, the participant also began to experience sleep disturbances with night terrors, sleep walking, and visual hallucinations. These symptoms worsened with methylphenidate and Guanfacine but have been more effectively controlled with the use of Abilify.

The participant has been tested and treated for ADHD, bilateral mild to moderate hearing loss, and an auditory processing disorder.

Since the participant’s assessment with the UDN, her condition has been complicated by a large fluid-filled bead-like sac at the spinal base (Tarlov cyst in the sacrum).

Developmentally, the participant has had some motor delays, social developmental delays, mild to moderate intellectual disability, and executive dysfunction. She also has a history of poor balance and frequent falls. She currently has an individualized education program (IEP) in place.

Symptoms / Signs
  • Attention deficit hyperactivity disorder (ADHD)
  • Impulsivity
  • Abnormal behavior while sleeping (parasomnia)
  • Sleep terror
  • Auditory and visual hallucination
  • Abnormality of brain electrical activity (EEG abnormality)
  • Seizures (tonic-clonic/absence seizures)
  • Fluid-filled space in brain (perivascular spaces)
  • Bilateral fluid-filled bead-like sacs in white matter (Tarlov cyst)
  • Mild-moderate intellectual disability
  • Poor coordination
  • Coarse/thick hair
  • Mild-moderate bilateral hearing loss (sensorineural hearing loss)
  • Decayed (carious) teeth
  • Recessed lower jaw (retrognathia)
  • Short neck
  • Abnormally formed carotid artery (arterial tortuosity)
  • Increased curvature of the spine (scoliosis)
  • Tissues protruding through abdomen (umbilical hernia)
Current Treatments
  • Aripiprazole
  • Cannabidiol
  • Clonazepam
  • Etonogestrel-eluting contraceptive device
  • Gabapentin
  • Lyrica
  • Magnesium citrate
  • Melatonin
  • Metformin
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Chromosomal disorders
  • Leukodystrophy disorders
  • Metabolic disorders
  • Mitochondrial disorders
  • Microdeletion/duplication disorders
  • Pallister-Killian syndrome
  • Turner syndrome
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 (hg19)
Transcript
DNA Change
Protein Change
Autosomal dominant
chr8:g.27336516C>A
NM_000742.3
c.-312G>T
N/A
Autosomal dominant
chr9: g.138678217C>T
NM_020822.2
c.3352C>T
p.Arg1118Cys
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.

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