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Participant 146


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Female, age 17 with seizures, regression and brain abnormalities (cortical dysplasia, brain atrophy)

Date of Report

Oct 01, 2019

Description

The participant had normal development until about 6 years. Around that time, her development plateaued. At age 9 she began having seizures, which have worsened over time.

The participant has some brain abnormalities (cortical dysplasia and an EEG with generalized slow activity); however, clinicians do not believe these findings explain all of her symptoms. Recently, she also developed gait and balance issues as well as a tremor with some movements.

A variant of unknown significance in the FBN1 gene was found in this participant which may explain some of her physical features. However, clinicians do not believe this explains her other symptoms and research into the cause of her condition is still ongoing.

Symptoms / Signs
  • Seizures (myoclonus, generalized-onset seizure)
  • Intellectual disability, progressive
  • Unsteady gait
  • Brain abnormalities (cortical dysplasia, brain atrophy, EEG with generalized slow activity)
  • Astigmatism
  • Mild nearsightedness (myopia)
  • Small earlobe
  • Flattened cheek bones (malar flattening)
  • High palate
  • Opening between left heart chambers (mitral valve prolapse)
  • Increased curvature of the spine (scoliosis, thoracolumbar scoliosis)
  • Narrowing of spinal canal (lumbar spinal canal stenosis, spinal stenosis with reduced interpedicular distance)
  • Compression fracture in spine (vertebral wedging)
  • Long and slender fingers (arachnodactyly)
  • Action tremor
  • Constipation
  • Infrequent menses (oligomenorrhea)
  • Disproportionate tall stature
  • Stretchmarks (striae distensae)
  • Café-au-lait spots
  • Sleep disturbance (obstructive sleep apnea)
  • Attention deficit hyperactivity disorder
  • Easy fatigue
Current Treatments
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Autism
  • Fragile X syndrome
  • Huntington disease
  • Metabolic disorder
  • Micro-deletion/duplication 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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