Dear Colleague, Dear Colleague,
I met Mrs. Maricruz MENDOZA VILLANUEVA born on 29.11.1985, 35 years old, at the request of the pulmonology service that has been following her for recurrent bronchopneumopathies for three years. 
Mrs. MENDOZA VILLANUEVA has Noonan syndrome, diagnosed in Spain around the age of 6. The question raised is the potential link between these chronic infectious problems and the genetic disease. 
Mrs. MENDOZA VILLANUEVA is part of a sibling group of 6 children. She has a sister who has the same condition with severe dyslexia and is rather short in stature. 
Her father, who is of Spanish origin, has Noonan syndrome; he measures 1.62 m. In this family, it is noted that one sister died suddenly on the third day of life and that two other sisters are in good health but of short stature. 
No significant antecedents are noted in the maternal branch of Mrs. MENDOZA VILLANUEVA. 
Mrs. MENDOZA VILLANUEVA was born at term with a weight of 3 kg 150 and a height of 45 cm. 
She has been followed since birth for significant feeding difficulties that persisted until the age of 10. Gastric tube feeding was necessary in early childhood. 
She also presented learning difficulties, notably dyslexia-dyscalculia requiring school assistance. Walking was acquired around 22 months, as was language. 
The diagnosis of Noonan syndrome was clinically suggested around the age of 8 due to evocative morphology, short stature, learning difficulties, and feeding difficulties. The diagnosis was confirmed at the molecular level with the identification of a mutation already described in the main gene of Noonan syndrome, PTPN11. 
On examination, her height is 1.49 m with a weight of 55 kg and a head circumference of 55 cm. 
A slight pectus excavatum is noted, a morphology compatible with Noonan syndrome, with an inverted triangle-shaped face, hypertelorism, prominent nasolabial folds, and livedo on the trunk. The neurological examination is normal. 
In total, classic Noonan syndrome linked to a PTPN11 mutation and chronic infectious syndrome. I explain to Mrs. MENDOZA VILLANUEVA that immune deficiencies and autoimmune diseases are somewhat more frequent than in the general population associated with this disease. 
I therefore complete the immunological assessment today (see annex). A basic biological assessment is also being redone in parallel. 
We also discussed genetic counseling. This is an autosomal dominant disease with a transmission risk of 1 in 2 but with variable expressivity. 
I will keep you informed of the follow-up. 
I will likely see her again with all the results and to discuss the disease further. 
Remaining at your disposal and best regards.