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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
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
Genetic Variants of Interest Clinicians and researchers are investigating the following de novo genetic change to see if it is causing the patient’s symptoms:
Gene Inheritance Pattern Position Transcript DNA Change Protein Change
CACNA1A* autosomal dominant chr19:13346480 NM_001127221.1 c.5018G>C p.R1673P
p.Arg1673Pro
*Database Links: NCBI Gene: 773 OMIM: 601011 UniProtKB/Swiss-Prot: O00555
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