background participants

Participant 187


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Female, age 13 with unsteady gait (gait ataxia), intellectual disability, absent speech, and seizures

Date of Report

Aug 02, 2021

Description

The participant was delivered via C-section after an uncomplicated twin pregnancy and was healthy at birth. She was slow to begin breast-feeding compared to her twin brother. She was notably irritable and “floppy” due to low muscle tone (hypotonia) and had difficulty gaining weight as a newborn.

At 5 months old, the participant was hospitalized after she began having seizures that would last anywhere from 30 seconds to 1 minute. The seizures have since been well-controlled with Keppra (levetiracetam), though she has experienced some behavioral side effects from this medication.

The participant has a history of developmental delay and is nonverbal. She can understand around 200 words and uses some signs and sounds to communicate. She has an unsteady gait (gait ataxia) and has had significantly delayed motor development overall. She is generally very social and has a happy disposition.

Symptoms / Signs
  • Absent speech
  • Seizures
  • Intellectual disability
  • Global developmental delay
  • Delayed motor development
  • Receptive language delay
  • Obsessive-compulsive and aggressive behavior
  • Brain abnormalities (borderline ventriculomegaly, delayed myelination, abnormal morphology of the left hippocampus, hypointense basal ganglia)
  • Low muscle tone (hypotonia)
  • Unsteady gait (gait ataxia)
  • Inability to straighten left elbow (elbow flexion contracture)
  • Deeply-set eyes
  • Mildly protruding jaw (mandibular prognathia)
  • Prominent cheeks (malar prominence)
  • Limited tongue movement (ankyloglossia)
  • Hand and foot abnormalities (extra thumb crease, tapered finger, metatarsus adductus)
  • Inverted nipples
  • Tibial torsion
Current Treatments
  • Multivitamin
Prior Treatments
  • Fish oil omega-3 fatty acids
  • Keppra – seizures
  • Phenobarbital – seizures
  • Sinemet – dystonia
Considered treatments
  • Pyridoxine (vitamin B6) – aggressive behavior as a side effect of Keppra
Previously Considered Diagnoses
  • Angelman syndrome
  • Metabolic condition
  • Microdeletion/duplication syndrome
  • Neurotransmitter disorder
  • Pitt-Hopkins Syndrome type 2
Other Photographs
Genetic Variants of Interest

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

Gene
Inheritance Pattern
Position (hg19)
Transcript
DNA Change
Protein Change
Autosomal dominant (de novo)
chr6:g.12989689_13083604dup
NM_030948.3
c.251-63908_415+29843dup
Causes duplication of exon 5
Contact

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

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