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Participant 116


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Female, age 10 with Turner syndrome and an undiagnosed neurological condition

Date of Report

Mar 20, 2019

Description

At 13 months, the participant was diagnosed with Turner syndrome. Around this same time, she was found to have fluid around her heart (pericardial effusion), which was treated. At 3 years old, she was diagnosed with high blood pressure (childhood onset hypertension).

The participant started having seizures at 6 months, which her parents described as “staring spells.” When she was about 3 years old, she began to have grand mal seizures. At 9 years, the seizures seemed to mostly affect the right side of her body. Around this time, she also had some weakness on one side of her face, and it was noticed that the left side of her face seemed larger than the right.

Over time, the participant has shown signs of expressive and receptive language delay, memory impairment, and developmental regression. In particular, her IQ has dropped, and her motor skills have decreased. This regression has occurred despite EEGs improving over time and normal brain MRIs.

Doctors are suspicious that the participant has Turner syndrome and an additional condition that would explain her seizures and regression.

Symptoms / Signs
  • Seizures (infantile onset)
  • Intellectual disability
  • Memory impairment
  • Developmental regression
  • Expressive and receptive language delay
  • Attention deficit hyperactivity disorder (ADHD)
  • Autistic behavior (ASD)
  • Anxiety
  • Insomnia
  • Short stature
  • Low muscle tone (muscular hypotonia)
  • High blood pressure (childhood onset hypertension)
  • Low-set ears
  • Facial asymmetry (left side larger than right)
  • Dark birthmarks on left arm, legs and abdomen (hyperpigmented streaks)
  • Abnormal angle of elbow and forearm (increased carrying angle)
  • Scoliosis
  • Abnormality of vertebrae (vertebral wedging)
  • Lower limb asymmetry (left leg shorter than right)
  • Knock knee (genu valgum)
Current Treatments
  • Amlodipine, Labetalol – high blood pressure
  • Calcium carbonate, Zantac – gastroesophageal reflux
  • Diazepam, Gabapentin, Keppra, Zonisamide – seizures
  • Melatonin – insomnia
  • Ritalin – ADHD
  • Singulair – allergies
  • Sertraline – anxiety
  • Somatropin – growth
  • Trazodone – depression
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Metabolic disorder
  • Microdeletion/duplication syndrome
  • Seizure disorder
Other Photographs
Genetic Variants of Interest
Contact

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

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