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Participant 182


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Male, age 1 with abnormal white matter of the brain (leukodystrophy), global developmental delay, abnormal brain electrical activity, and eye abnormalities (visual impairment, optic atrophy, esotropia)

Date of Report

Jun 09, 2021

Description

The participant was born at 37 weeks by spontaneous vaginal delivery. He failed his newborn hearing screen twice but passed a third screen at 5 weeks of age. Following his birth, the participant had a weak cry, was not visually tracking, and did not wake up well. He was admitted to the hospital at 3.5 months for episodes of head shaking, leg stiffening, eyes roving, and fever. Brain imaging showed extensive abnormal white matter (leukodystrophy). There was also elevated brain lactate identified by magnetic resonance spectroscopy (MRS). On neurologic exam, the participant did not track, had poor suck, weak cry, low muscle tone (hypotonia), and brisk deep tendon reflexes.

Since this hospitalization, the participant has been doing better with improved tracking and head control. He has not shown signs of regression. He was recently found to have damage to the optic nerve (optic atrophy) associated with visual impairment.

Symptoms / Signs
  • Global developmental delay
  • Low muscle tone (hypotonia)
  • Abnormal white matter of the brain (leukodystrophy)
  • Abnormal brain electrical activity (EEG with focal slow activity and focal sharp waves)
  • Elevated brain lactate level by MRS
  • Visual impairment
  • Damage to the optic nerve (optic atrophy)
  • Eye turned inward (esotropia)
Current Treatments
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Congenital cytomegalovirus (CMV) infection
  • Metabolic disorders
  • Microdeletion/duplication disorders
  • Mitochondrial disorders
  • Vanishing white matter disease
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:

Gene
Inheritance Pattern
Position (hg19)
Transcript
DNA Change
Protein Change
Autosomal recessive
chr10:g.16526795A>T & chr10:g.16528477A>G
NM_030664.4
c.412A>T & c.559A>G
p.Arg138Trp & p.Thr187Ala
Contact

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