Page 93 - Clinical variability in Noonan syndrome with emphasison ear and eye

COCHLEAR IMPLANTATION IN NOONAN SYNDROME AND NOONAN SYNDROME WITH MULTIPLE LENTIGINES
ears, sandal gap deformity and skinfold thickness of the neck. By auscultation, a systolic heart murmur was found. Additionally, echocardiography revealed a left ventricular dilatation with ventricular wall hypertrophy. The patient had diffuse xerosis cutis with lamellar scaling skin. This was diagnosed as x-linked ichthyosis by a Xp22.31 deletion. Psychomotor retardation, intellectual disability and short stature were diagnosed. After a negative neonatal hearing screening test, a BERA was performed at 8 weeks of age. No responses were detected at a stimulus of 90 dBnHL, which confirmed a congenital severe hearing impairment. With electronystagmography, an asymmetric vestibular areflexia at the right side was found. An MRI showed no cerebral or inner ear abnormalities. A mutation (c. 124A>G) in the PTPN11 gene was found, which confirmed the diagnose of NS. Hearing aids were fitted, but auditory development was limited. An ASSR, performed before the implantation, showed a PTA at the right ear (Figure 2a) of 105 dB HL and 93 dB HL at the left ear. Pre-implantation, a VRA audiogram showed thresholds of approximately 80 dB HL, with hearing aids (Figure 2b). Frequent otitis media was observed. At the age of 1;8, the patient received a Nucleus Freedom CI (Cochlear) in the right side. During the operation, an abnormal procedure was necessary. The chorda tympani had an abnormal trajectory, being more posterior. The chorda tympani was mobilized from its canal to make an appropriate opening. However, a cochleostomy through a posterior tympanotomy opening was still impossible, and the insertion was therefore conducted after removing the back of the bony ear canal wall, which was reconstructed with cartilage. The electrode array was fully inserted. Twelve months after the implantation, a PTA of 43 dB HL at the right ear was found (Figure 2c). Thirty-seven months post-implantation, the PTA had improved to 28 dB HL, and that value was stable over time. Seven years after implantation, a phoneme score of 90% was measured. Because of an intellectual disability, language comprehension improved, but at a slower pace than normal.
Case report 3- NS
This case comprises a girl born after 36 weeks of gestation. A clinical examination showed mild dysmorphic features (curly hair, ptosis, epicanthus, cup ear at the right side and, left dysplastic helix). No abnormalities were found by family history. By auscultation, a systolic murmur was found. Echocardiography showed a valvular pulmonary stenosis with good left ventricle functions. She had a growth retardation of more than 2 SD below the mean. After a negative neonatal hearing screening, a BERA was performed, which showed no reproducible response up to 90 dBnHL. The child had multiple ear infections. The motor development was normal; however, a mental development delay was present. At the age of 3;5, the diagnosis of Noonan syndrome was confirmed with a c.922A>G mutation in the PTPN11 gene. No inner ear abnormalities were found by Computed
91
6