Page 94 - Clinical variability in Noonan syndrome with emphasison ear and eye
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                CHAPTER 6
Tomography (CT). A vestibular examination revealed areflexia on both sides. Initially, hearing aids were used in combination with sign language, but the result was poor, and it was thus decided to implant the child with a CI. Pre-implantation, audiometry showed no reliable responses up to 120 dB HL on either ear (Figure 3a). With the fitted hearing aids, sound-field thresholds of approximately 70 dB HL were found (Figure 3b). At the age of 3;9, a Nucleus Freedom CI (Cochlear) was implanted in the right side with full insertion. In addition to a diffuse hemorrhage, no complication occurred. Two months after implantation, sound-field testing was performed and showed a PTA of 45 dB HL with the CI. Six years and three months post-implantation, the PTA improved to 28 dB HL (Figure 3c), and a phoneme score of 70% was found. The delay in language development remained; however, progress was obvious.
Case report 4- NS
A girl was born after 36 weeks of gestation with a birth weight of 2250 grams. The family history was uneventful. A clinical examination showed low-set ears, severe pectus excavatum, short stature, short neck and a heart murmur. An atrioventricular septal defect, an atrial septal defect type II and a severe left ventricular outflow obstruction based on a mitral valve disorder were found. Hemostasis disorders were detected with a mildly decreased von Willenbrand factor and coagulation factors (VII, VIII, IX, XI). Because this is insufficient for normal coagulation, a peri-operative treatment with desmopressin and tranexamic acid were required. Before the age of one year she underwent a surgical correction for these congenital heart abnormalities. Clinically, she was diagnosed with NS, and a DNA analysis confirmed a missense mutation c.124A>G in PTPN11. Because of the heart problems, the hearing impairment was not noticed. A short stature of 2 SD below the mean was detected. The patient had a mild intellectual disability. However, motor development was normal. At the age of 1;4, VRA showed a PTA of 88 dB HL (Figure 4a). At the age of 3;0, she received hearing aids, which improved the PTA to 50 dB HL (Figure 4b). Using tone audiometry, a PTA of 102 dB HL was measured in both ears at the age of 3;7. An otitis media was observed frequently. The hearing loss progressed slowly over the years, which resulted in a PTA of 113 dB HL in the right ear (Figure 4a) and 115 dB HL in the left ear, which were measured at the age of 13;5. Initially, a phoneme score of 50% with hearing aids was measured, and this score dropped significantly when it was measured at the age of 13;5. Therefore, she became eligible for a cochlear implantation. The pre-operative testing with hearing aids showed a phoneme score of 25% in the right ear and 44% in the left ear. No abnormalities were found with a CT scan and vestibular testing. At the age of 13;10, she received a Nucleus 5.12 (Cochlear) in the right side. The electrode array was fully inserted. Seven months after the implantation, a PTA of 22 dB HL (Figure
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