Page 96 - Clinical variability in Noonan syndrome with emphasison ear and eye

CHAPTER 6
4c) and a phoneme score of 87% were measured. Because of the mild intellectual disability and the long-standing severe hearing loss, language development remained behind normal levels.
Case report 5- NSML
A girl was born at 39 weeks of gestation with a birth weight of 3985 grams. No abnormalities were found in the family history. By the clinical examination, dysmorphic features, frontal bossing and mild ptosis were observed. By auscultation, a systolic murmur was found. Echocardiography showed a hypertrophic cardiomyopathy without obstruction and good contractions. A mild peripheral pulmonary stenosis was detected. After a negative neonatal hearing screening, a BERA was performed at the age of 19 days, which showed responses at 70 dBnHL in the right ear and 60 dBnHL in the left ear. A second BERA, performed one month later, showed no reproducible responses at 90 dBnHL. Hearing aids were fitted. At the age of 0;7, except for bilateral opacification of the mastoid, no temporal bone abnormalities were found by MRI. However, there were minimally enlarged ventricles, and the myelinization of the frontal lobe was slightly behind. These findings can be explained by the age at the time of the MRI. However, a motor retardation was present. The mental development was normal.
A short stature of 2 SD was detected. No vestibular abnormalities were found with nystagmography. A VRA was performed at the age of 0;11 and showed a hearing loss of 97 dB in the left ear and 93 dB in the right ear (Figure 5a). With bilateral hearing aids, thresholds of approximately 40 dB HL were found (Figure 5b). Frequently, an otitis media was observed. Despite aided thresholds of 40 dB HL, the auditory and language development remained at a low level, and at the age of 1;4, she received a Nucleus 5.12 (Cochlear) CI in the right side. The electrode array was fully inserted and no complication occurred. A second Nucleus 5.12 (Cochlear) CI was implanted in the left side at the age of 1;10. Again, the electrode array was fully inserted. Before the second implantation, a PTA was measured of more than 110 dB HL at the left ear, and with the hearing aid, a PTA of 58 dB HL was found (Figure 5d and Figure 5e). At the age of 2;7, the hearing thresholds were measured with the CI, and the PTA in the right ear was 32 dB HL and in the left ear was 25 dB HL (Figure 5c and Figure 5f). The phoneme score in the right ear was 85% and in the left ear was 60%. Between the age of 3 to 4 years, the phoneme scores improved to 90% and 89%, respectively. After implantation, language comprehension improved and became age appropriate. At the age of 4, multiple skin disorders were detected, which led to NSML. On the left side of the buttocks, a large cafe au lait spot was presented. At her face and thorax, multiple lentigines were found. A genetic analysis confirmed NSML with a missense mutation in PTPN11, c.836A>G.
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