Page 91 - Clinical variability in Noonan syndrome with emphasison ear and eye

COCHLEAR IMPLANTATION IN NOONAN SYNDROME AND NOONAN SYNDROME WITH MULTIPLE LENTIGINES
a indicator of the degree of speech perception (19,20). To describe the age of the patients, the year, month or number of weeks were used.
Case presentations
Case report 1- NS
A boy, son of immigrants, was born full term with a birth weight of 3840 grams. The parents were non-consanguineous. The clinical examination showed down-slanting palpebral fissures, a dysmorphic face and a systolic heart murmur. Echocardiography showed a patent foramen ovale. Because of excessive weight loss and neonatal feeding problems in the first weeks a genetic analysis was done. At the age of three weeks, the neonatal hearing screening was negative. A severe congenital hearing loss was confirmed by BERA, which showed no responses at 90 dBnHL. Hearing aids were fitted. The diagnosis of Noonan was confirmed with the missense mutation c.1510A>G in PTNP11, and a single heterozygous mutation was found in GJB2. Magnetic Resonance Imaging (MRI) of the head showed no inner ear abnormalities. However, dorsal bilateral cysts in the corpus callosum of 1 mm at the right side and 6 mm at the left were found. Electronystagmography showed vestibular hyporeflexia. At the age of 9 months, an ASSR was performed and showed a PTA of 90 dB HL at the right ear (Figure 1a) and of 75 dB HL at the left ear. The best hearing result, determined with VRA, using hearing aids showed a PTA of 53 dB HL at the right ear (Figure 1b) and 43 dB HL at the left ear. Due to poor auditory development, it was decided that a cochlear implantation was needed. At the age of 1;1 he received a Nucleus Freedom CI (Cochlear) at the right side. The electrode array was fully inserted. The operation was associated with more than the usual diffuse hemorrhage. Seven months after the cochlear implantation, a sound field PTA of the right ear with the CI showed 35 dB HL, which remained stable over time (Figure 1c). Three years after implantation, a phoneme score of 63% was measured. Because of a diagnosed mild intellectual disability and because rehabilitation occurred in an environment where sign languages was used, the progress in spoken language development remained slow.
Case report 2- NS
A full term boy was born with a birth weight of 3660 grams after an antenatal polyhydramnion of an unknown origin. The parents were non-consanguineous. The father had ichthyosis and epileptic attacks, but no other abnormalities were found in the family history. A clinical examination showed erythroderma, mild tachypnea, and mild dysmorphic features, including hypertelorism, retrognathia, dysplastic and low-set
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