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Participant 073

On this page, you will find information about a UDN participant.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.


Male, age 6, with chronic high blood pressure (hypertension), recurrent respiratory infections, and low muscle tone (central hypotonia)

Date of Report

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.

Symptoms / Signs
  • High blood pressure (hypertension)
  • Recurrent infections (chronic otitis media, sinusitis, respiratory infections)
  • Reduced immune system response (reduced natural killer cell activity)
  • Immunodeficiency disease (specific anti-polysaccharide antibody deficiency)
  • Excessive sweating (hyperhidrosis)
  • Low muscle tone (central hypotonia)
  • Delayed speech and language development
  • Developmental delays
  • Abnormality in the electrical activity of the brain (EEG abnormality)
  • Fainting (syncope)
  • Blotching pigmentation of the skin
  • Eyes facing inward (esotropia)
  • Abnormal tear secretion (lacrimation abnormality)
  • Asthma
  • Reflux
  • Distended belly
Current Treatments
  • Atacand, Isradipine- high blood pressure
  • Esmoprazole- gastroesophageal reflux disease
  • Flovent, Albuterol – breathing issues
Prior Treatments
  • Nifedipine- high blood pressure
  • IVIG- recurrent infections
Considered treatments
Previously Considered Diagnoses
  • Charcot-Marie-Tooth disease
  • Familial dysautonomia (negative IKBKAP common mutation testing and Sanger sequencing; non-diagnostic exon level array and exome sequencing)
  • Hereditary neuropathy (non-diagnostc panel testing and exome sequencing)
  • Neuroblastoma
  • Pheochromocytoma
  • Posterior reversible encephalopathy syndrome
Other Photographs
Genetic Variants of Interest

If this participant sounds like you or someone you know, please contact us!


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