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Participant 003


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Female, age 8 with a neurological condition

Date of Report

May 13, 2016

Description

When the patient was 4 months old, she was noticed to have poor head control and low muscle tone. At 10 months, she had a brain MRI that showed mild thinning of the nerve fibers that join the two hemispheres of the brain (called the corpus callosum) and delay in myelination of deep white matter in the brain. At age 3, she had another brain MRI that showed a decrease in the area of the brain called the cerebellum. She does not have a history of seizures. Currently the patient is able to sit, crawl, and walk with the assistance of a walker. However, she does lose stability easily and primarily uses a wheelchair. She does not communicate verbally, but does communicate through sign language and an iPad. Overall the patient is delayed developmentally, but is making progress in gaining developmental skills and has not regressed in any skills. She feeds herself and is very social, engaged, and friendly.

Symptoms / Signs
  • Low muscle tone (hypotonia)
  • Problems with coordination (ataxia)
  • Reflexes occur more slowly (depressed deep tendon reflexes)
  • Decrease in the area of the brain called the cerebellum (cerebellar atrophy and hypoplasia)
  • Delayed development
  • Nonverbal, but excellent receptive language (expressive language disorder)
  • Eyes cross when trying to see clearly (accommodative esotropia)
  • Farsightedness (hyperopia)
Current Treatments
  • Diamox
Prior Treatments
  • Coenzyme Q10 and carnitine- no significant improvement in hypotonia
Considered treatments
Previously Considered Diagnoses
  • Rett syndrome
  • GLUT1 deficiency
  • Niemann-Pick disease
  • Micro-deletion/duplication syndrome
  • Mitochondrial condition
  • Aminoacylase 1 deficiency
  • Inherited ataxia syndromes
  • Prader-Willi syndrome
Other Photographs
Genetic Variants of Interest

Clinicians and researchers have identified the following genetic change to be causing the patient’s symptoms (Luo et al, 2017):

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Autosomal dominant
chr19:13346480
NM_001127221.1
c.5018G>C
p.R1673P p.Arg1673Pro
Contact

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