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Participant 150


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Female, age 7 with respiratory failure, feeding difficulties and global developmental delay

Date of Report

Oct 22, 2019

Description

The participant was born after a normal pregnancy and cesarean section delivery. She spent 9 days in the neonatal intensive care unit after birth because of difficulty feeding and respiratory issues. An x-ray found that her lungs were dilated and she was placed on CPAP. At that time, it was also found that she had weak cartilage in the larynx and trachea (laryngotracheomalacia); however, surgery was not needed. She was sent home but still had difficulty feeding and had to be spoon fed.

At about a month old, the participant was taken back to the hospital because of vomiting and was found to have gastroesophageal reflux. It was also noted that she had low muscle tone (hypotonia). She underwent an echocardiogram which showed a heart defect (patent foramen ovale).

At 15 months of age, the participant had an abnormal sleep study and was found to have abnormal brain activity (EEG with generalized slow activity). Around this time, she was also diagnosed with vision impairment.

At 3 years and 10 months old, the participant had a severe cold, and suffered a respiratory arrest after a coughing spell that left her limp and unresponsive. She was intubated and diagnosed with pneumonia. Two weeks later, she failed extubation, coded, and required CPR in the intensive care unit. She was re-intubated again.  In order to widen her airway passage, a decision was made to perform Tonsillectomy and Adenoidectomy (T&A). She suffered severe hemorrhage subsequent to her T&A surgery. It was finally decided to place a tracheostomy tube to help with the breathing difficulties. The same year, she also had a gastrostomy tube placed to help with chronic bloating (abdominal distension).

An MRI performed at a later date found that there had been some brain damage as a result of the respiratory arrests and coding owing to failure during extubation.

The participant is currently non-verbal and requires ventilation throughout the day. She is part of a home learning program and is alert and responsive.

Symptoms / Signs
  • Global developmental delay
  • Intellectual disability
  • Abnormal brain activity (EEG with generalized slow activity)
  • Brain abnormalities (hydrocephalus, extra-axial cerebrospinal fluid accumulation, anterior horn cell disease)
  • Coarse facial features
  • Visual impairment (cerebral)
  • Weak cartilage in walls of larynx and trachea (laryngomalacia, tracheomalacia)
  • Respiratory failure requiring assisted ventilation
  • Ventilator dependence
  • Repetitive air swallowing (aerophagia)
  • Heart defect (patent foramen ovale)
  • Cardiac arrest
  • Feeding difficulties
  • Chronic abdominal bloating (abdominal distention)
  • Gastrostomy tube feeding in infancy
  • Acid reflux (gastroesophageal reflux)
  • Loss of bladder control (urinary incontinence)
  • Loss of bowel control (bowel incontinence)
  • Inability to straighten finger (flexion contracture of finger)
  • Low muscle tone (generalized hypotonia)
  • Sleep disturbances (severe obstructive sleep apnea)
Current Treatments
  • Albuterol – breathing difficulties
  • Vitamin D
  • Eye lubricant – exposure keratopathy/corneal scar
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Congenital disorder of glycosylation
  • Microdeletion/duplication syndrome
  • Mitochondrial disorder
  • Pallister-Killian syndrome
  • Spinal muscular atrophy
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
Autosomal recessive
Chr7:70800695; Chr7:71175870
NM_022479.2; NM_022479.2
c.398C>T; c.1625A>T
p.S133F; p.D542V
Contact

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