Female, passed away at 12 weeks old, with thickening of the heart muscle (hypertrophic cardiomyopathy), abnormal brain activity on EEG, breathing difficulties, and metabolic abnormalities.
Jul 22, 2024
The participant was born after a pregnancy that was complicated by maternal nausea, urinary tract and ear infections, and anemia. Her birth was uncomplicated, but 8 hours later she began experiencing choking episodes, difficulty breathing, and abnormal movements.
The choking episodes continued to occur sporadically over the following months. Imaging studies revealed brain abnormalities (diffuse white matter abnormalities, intraventricular hemorrhage) and abnormal functioning. Her breathing difficulties were likely caused by abnormal brain signals, as her respiratory organs appeared to be functioning normally.
The participant had significant hearing loss (bilateral sensorineural hearing impairment) and low muscle tone (hypotonia). She also had clouding of her eye lens (developmental cataract) and elevated pressure in her eyes. She would often go weeks at a time without opening her eyes.
The participant’s cardiac evaluations showed poor heart function (decreased biventricular function) and thickening of the heart muscle (biventricular hypertrophy). She underwent a procedure to remove fluid from around her heart (pericardiocentesis).
The participant had elevated levels of several metabolites (lactic acidosis, 3-methylglutaric aciduria, acute hyperammonemia). Some of her metabolite levels (ammonia & 3-methylglutaric acid) returned to normal with time, but later became elevated again after an illness.
At 12 weeks old, the participant passed away peacefully from her condition while surrounded by her devoted family members.
If this participant sounds like you or someone you know, please contact us!
