Evolution of Symptoms
The first sister died at one year of age of respiratory failure, after suffering progressive weakness and respiratory insufficiency over many months.
The second sister developed seizures around 4 months of age. She was given treatment with L-dopa/carbidopa and BH4 (tetrahydrobiopterin) for low cerebrospinal fluid levels of BH4 and HVA (a dopamine metabolite) and had some clinical response characterized by improved ptosis, level of alertness and circulatory instability. However, she continued to decline over time, and ultimately died at 19 months of age with acute respiratory distress syndrome in association with an influenza infection.
Identification of similarly affected infants could help to further clarify the genetic and pathophysiologic basis of this disorder.
