background participants

Participant 109


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Male, age 13 with intellectual disability, absent speech, seizures, abnormality of brain white matter (periventricular leukomalacia), & curvature of the spine (kyphosis, scoliosis)

Date of Report

Feb 21, 2019

Description

The participant was born by emergency cesarean section at 38 weeks. After failing to meet his developmental milestones, he was diagnosed with global developmental delay and low muscle tone (generalized hypotonia). At one-year-old, the participant began to have frequent seizures. Anti-seizure medications have helped reduce the number of seizures. He currently experiences them only a few times a year.

The participant also has narrowing of the esophagus (esophageal stricture), which makes eating solid foods difficult. A gastronomy tube (G-tube) was placed to help with weight gain. Some of his other symptoms include horizontal, repetitive, uncontrolled eye movements (nystagmus), nearsightedness (myopia), and excess curvature of the spine (kyphosis, scoliosis). Of note, the participant also has asthma and experiences recurrent episodes of pneumonia. He is nonverbal, but can communicate through gestures, and can walk with assistance.

Symptoms / Signs
  • Global developmental delay
  • Seizures
  • Intellectual disability
  • Abnormality of brain white matter (periventricular leukomalacia)
  • Low muscle tone (generalized hypotonia)
  • Absent speech
  • Difficulty with speech (dysphasia)
  • Horizontal, repetitive, uncontrolled eye movements (nystagmus)
  • Nearsighted (myopia)
  • Increased number of teeth
  • Narrowing of the esophagus (esophageal stricture)
  • Asthma
  • Difficulty breathing while sleeping (obstructive sleep apnea)
  • Recurrent pneumonia
  • Excess curvature of the spine (kyphosis, scoliosis)
Current Treatments
  • Albuterol, Fluticasone – asthma
  • Atropine
  • Clonazepam, Diazepam, Keppra, Oxcarbazepine, Zonisamide – seizures
  • Glycolax – constipation
  • Levothyroxine – hypothyroidism
  • Physical, occupational, speech, and music therapy
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Lysosomal storage disorder
  • Metabolic condition
  • Microdeletion/duplication disorder
  • Mitochondrial condition
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
Transcript
DNA Change
Protein Change
X-linked
ChrX:11682726
NM_013427
c.223C>T
p.L75F
Autosomal recessive
Chr16:84438765; Chr16:84492871
NM_014861
c.242C>G; c.2217-5C>T
p.S81W; N/A
Autosomal recessive
Chr7:43006687
NM_014780
c.4333C>T
p.R1445X
Unknown
Chr12:31568306
NM_144973
c.2547C>A
p.D849E
Autosomal recessive
Chr10:13743458
NM_018027
c.857C>T
p.T268M
Unknown
ChX: 125955222
NM_001122716
c.601C>T
p.R201X
Contact

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

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