Sep 28, 2021
The participant spent the first 19 days after birth in the neonatal intensive care unit (NICU) because of respiratory distress, feeding issues, low muscle tone (hypotonia) and slow heart rate (bradycardia). She was also found to have a heart defect (atrial septal defect). An initial MRI showed almost complete lack of myelination and enlarged ventricles. Subsequent MRIs demonstrate diffuse white matter pallor and progressive ventriculomegaly. A diagnosis of Pelizaeus-Merzbacher Like Leukodystrophy (PMLD) was given, but it is now thought that she does not fit any of the known leukodystrophies.
The participant has had many gastrointestinal reflux issues as well as chronic pain and chronic congestion. Her chronic pain results in 5 to 10 breath holding spells per day which have been improved through iron supplementation. She also has flow of urine from the bladder to the kidneys (vesicoureteral reflux), which has resulted in frequent urinary tract infections. She is entirely non-verbal and unable to hold up her head or sit on her own. She has had many abnormal EEG tests from an early age. The participant recently presented with infantile spasms prior to her third birthday which are controlled through Vigabatrin.
Clinicians and researchers believe the following genes are involved in causing the participant’s symptoms (CITED2 variant likely explains the atrial septal defect):
If this participant sounds like you or someone you know, please contact us!
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