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Participant 032


MT-TL2 ZDHHC9
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Male, age 5, with developmental delay and abnormal MRI findings (T2 hyperintensity of caudate nuclei and putamen bilaterally) caused by changes in the MECR gene

Date of Report

Aug 22, 2017

Description

At 6 months, the patient was not sitting or rolling and was found to have low muscle tone (hypotonia). Over time, his hypotonia has become more noticeable and currently he is unable to stand or walk. He has also developed involuntary muscle contractions (dystonia) and problems with coordination (ataxia). The patient does not communicate verbally, but receptive language is intact, and does use an assistive communication device. He is very social and engaged. The patient has been diagnosed with MEPAN syndrome, a mitochondrial fatty acid synthesis disorder that presents with childhood onset dystonia, optic atrophy, and abnormal MRI findings in the basal ganglia.

His younger brother (picture below) is similarly affected, and ataxic symptoms have slightly worsened.

Symptoms / Signs

Shared symptoms:

  • Global developmental delay
  • Problems with coordination (ataxia)
  • Low muscle tone (hypotonia)
  • Abnormal MRI findings (T2 hyperintensity of caudate nuclei and putamen bilaterally)
  • Optic nerve pallor
  • Overlapping toes

Older participant only:

  • Dystonia

Younger participant only:

  • Droopy eyes (ptosis)
  • Birthmark (nevus)
  • Abnormal crease on the palm of the hand (bridged palmar crease)
  • Food and environmental allergies/sensitivities
  • Constipation
Current Treatments
  • Alpha lipoic acid
  • Baclofen (older sibling)
Prior Treatments
  • Levodopa
  • Trihexyphenidyl
  • Folinic acid
Considered treatments
  • Triheptanoin
  • Idebenone
Previously Considered Diagnoses
  • Chromosomal disorder (karyotype and array- normal)
  • Friedreich’s ataxia (testing negative)
  • Metabolic condition (testing negative)
  • Leigh-like syndrome
Other Photographs
MT-TL2 ZDHHC9
Genetic Variants of Interest

Clinicians and researchers have identified the following genetic changes to be causing the participant’s symptoms:

Gene
Inheritance Pattern
Position (hg19)
Transcript
DNA Change
Protein Change
MECR
Autosomal recessive
chr1:g.29527026dup & chr1:g.29557457C>G
NM_016011.3
c.830+2dup & c.-39G>C
N/A
Contact

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

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