Objective:

Given the rarity of long-term survival, very little is known about the progression of development, cognition, and collateral medical conditions of people living into adulthood with trisomy 13. Here we describe a case of a 31-year-old male with full trisomy 13, one of the oldest patients reported in the literature with this condition.

Background:

Patau syndrome is a result of a trisomy of chromosome 13. Medical literature reports up to 90% mortality within the first year of life in all variations of the syndrome. Hence, very few cases have been described of individuals with Patau syndrome who survived to adolescence. As of 2012, only 9 cases of individuals surviving full-duplication-trisomy 13 beyond the age of 5 had been reported. The severity of symptoms and lifespan seem to depend on the extent of the chromosomal duplication, which can present in three ways: full, partial, or mosaic. Individuals with full trisomy 13 tend to exhibit more severe symptoms and a shorter lifespan compared to individuals presenting with either mosaic or partial trisomy 13.

Design/Methods:

N/A

Results:

The patient presents with global developmental delay, classic dysmorphic features, an IgG deficiency, blindness, and a seizure disorder that is well controlled with medication. The patient does not have any significant cardiac abnormalities, which are often present in Patau syndrome. Significantly, this unique patient has survived to adulthood despite living in a rural area with fewer medical resources than his urban counterparts. However, the individual has received exceptional care from his family members, which has been paramount to his health.

Conclusions:

This case demonstrates that some individuals with full trisomy 13 are able to live into adulthood with appropriate medical care and family support, highlighting that early recognition and intervention should not be neglected in the care of such patients.