Male, age 6, with chronic high blood pressure (hypertension), recurrent respiratory infections, and low muscle tone (central hypotonia)
Jun 06, 2018
At 4 months old, the participant had an episode of extremely high blood pressure (malignant hypertension), which required resuscitation and intubation. He underwent an extensive workup, but a diagnosis was not found. Since then, he has had four other hospitalizations due to high blood pressure. His systolic blood pressures have been as high as 170 mmHg, but are currently well controlled and checked daily. When his blood pressure does get high, he complains of headaches and feeling faint, and has sleep difficulties and skin redness.
The participant also has breathing issues and underwent a tonsillectomy and adenoidectomy with tube placement to help with his sleep apnea. He has had numerous infections and receives IVIG on a monthly basis. He also does not produce any tears when he cries (lacrimation abnormality) and has episodes of excessive sweating (hyperhidrosis).
A diagnosis of familial dysautonomia was considered, but testing for variants in the IKBKAP gene has been negative (common mutation testing, Sanger sequencing, exon level array, exome sequencing). Testing to look for neuroblastoma and pheochromocytoma has also been negative.
Despite his medical complications, the participant continues to make progress developmentally.
If this participant sounds like you or someone you know, please contact us!
