background participants

Participant 070


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Female, age 26 with an undiagnosed progeria-like syndrome

Date of Report

May 30, 2018

Description

When the participant was 2 days old, she was found to be arching backwards. It was suspected that she was having a seizure, but follow-up testing was normal. She has not had any seizure-like episodes since. Early in life, she was also found to have hearing loss (sensorineural hearing impairment) and currently has bilateral cochlear implants. She is able to communicate well through signing and lip reading. She also met all of her other developmental milestones on time.

By the age of 9, the participant had developed a receding hairline. She also was found to have dry skin and decreased saliva and sweat. On skin biopsy, she was shown to have a lack of oil-producing (sebaceous) glands. Testing at this time showed low levels of thyroid hormone (hypothyroidism), for which she began treatment (levothyroxine).

During a dental procedure at the age of 20, the participant had a difficult recovery and was found to have fluid between the lung and chest wall (chylothorax). She had this excess fluid removed and required several more of these procedures until she was recommended to try the medium chain triglyceride diet, which has greatly improved her condition.

She has also had several severe infections, which were treated with antibiotic prophylaxis. She is suspected to have a progeria-like syndrome due to her short stature, receding hairline, and facial appearance, but testing so far has been negative.

Symptoms / Signs
  • Short stature
  • Receding hairline and aged facial appearance (progeroid facial appearance)
  • Abnormal fat distribution (lipodystrophy)
  • Hearing loss (sensorineural hearing impairment)
  • Low levels of thyroid hormone (hypothyroidism)
  • Fluid between the lung and chest wall (chylothorax)
  • Excess fat in stool (steatorrhea)
Current Treatments
  • Levothyroxine – hypothyroidism
  • Medium chain triglyceride diet – chylothorax
Prior Treatments
  • Antibiotic prophylaxis – frequent infections
  • Thoracentesis – chylothorax
Considered treatments
Previously Considered Diagnoses
  • Chromosomal breakage disorder – negative DEB studies
  • Connexin 26 associated hearing loss – negative genetic testing
  • Pendred syndrome – negative genetic testing
  • POLD1 associated condition – negative Sanger sequencing
  • Progeria – negative panel testing
  • ZMPSTE24 associated condition – negative Sanger sequencing
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic change to see if it is causing the participant’s symptoms:

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Autosomal dominant (paternally inherited)
Chr1: 108724581
NM_013386
c.380C>A
p.A127E
Contact

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