Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome

摘要

A 101/2-year-old boy was born at full term, the second child of nonconsanguineous parents. Pregnancy and parturition were uncomplicated. Breast feeding was complicated because of nasal regurgitation. He developed a positional plagiocephaly, and had a inguinal hernia and right-sided cryptorchidism, which were both corrected when he was 9 weeks old. Because of poor movements at the age of 4 months, physiotherapy was started and he was examined by a neurologist. Facial dysmorphisms (epicanthus, hypertelorism, down-slanted palpebral fissures, ptosis, small right orbit, low-set ears and webbed neck), pectus excavatum with a wide internipple distance, head lag, poverty of movement and plagiocephaly were present. At 8 months, a delayed development with a tonic dysregulation was noted. Fine motor, adaptive and personal social behaviour were adequate. At the age of 34 months, speech therapy showed a language and speech development delay of, respectively, 4 and 10 months.