ABSTRACT
Objective Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked neurodegenerative disorder which usually involving hearing impairment, gradual dystonia, and other symptoms. In this study, we perform analyzed the genetic makeup of a family with this rare Mohr-Tranebjaerg syndrome. Methods We collected the clinical data of the family, did the whole exome sequencing on the proband Ⅲ6 with a rare mutation, and verified the mutation in another affected family member Ⅲ5 and unaffected members Ⅰ1, Ⅰ2, Ⅱ1, Ⅱ5, Ⅱ7, Ⅱ8, Ⅲ7. Results The patients in the family all showed early-onset deafness. More than a couple of affected male members have dystonia with/without mental disorders. Genetic testing results showed the proband Ⅲ6 had a c.133-2delA in TIMM8A (NM_ 004085.3, DDP1), highly likely pathogenic(LP). This variation was detected in affected Ⅲ5 as well as the unaffected females Ⅰ1, Ⅱ5, Ⅱ7. Conclusions MTS caused by the rare TIMM8A mutation, the molecular etiology of the family with this rare disease, is highly consistent with the clinical manifestations and segregation. Other than the deafness, other symptoms varied among the affected family members. Genetic diagnosis for such X-linked diseases can also identify female heterozygotes. Genetic and reproduction counseling can help families in the family planning.
ABSTRACT
Objective To evaluate the radiation dose and image quality of the third-generation dual-source CT using automated tube voltage adaptation (CARE kV) in temporal bone scanning in pediatric patients with hearing impairment. Methods Totally 27 children with hearing impairment less than 18 years old were randomly divided into two groups:Group A (n=14),examined with CARE kV (reference with 100 kV and 214 mA)and sinogram-affirmed iterative reconstruction;and Group B (n=13),examined with CARE kV (reference with 100 kV and 171 mA)and advanced modeled iterative reconstruction. The scan range was from eyebrow to the end of the mastoid process. CT values and image noise were measured.The signal to noise ratio (SNR)was calculated. Subjective image quality was assessed by two radiologists and later in a consensus reading. Results There was no significant difference in CT value,image noise,and SNR between these two groups (all P>0.05). Also,the subjective scores of the 10 anatomical structures showed no significant difference (all P>0.05). The CT dose index volume and dose-length product were (11.62+1.92)mGy and (106.92+37.48)mGy·cm,respectively,in group B and (21.28+2.19)mGy (t=12.15,P<0.001)and (229.65+56.26)mGy·cm (t=6.62,P<0.001)in group A,decreased by 45% and 53%. Conclusion Compared with the second-generation dual-source CT,the third-generation dual-source CT for the scanning of temporal bone with CARE kV can ensure image quality and reduce radiation dose.
Subject(s)
Child , Humans , Hearing Loss , Diagnosis , Radiation Dosage , Radiographic Image Interpretation, Computer-Assisted , Signal-To-Noise Ratio , Temporal Bone , Diagnostic Imaging , Tomography, X-Ray Computed , MethodsABSTRACT
Treacher Collins syndrome (TCS, OMIM 154500), also known as Franceschetti-Klein syndrome, is a rare disorder that affects the first and second branchial arches. The estimated incidence is 1/50 000 live births. Mutations in TCOF1 (78%-93%) and POLR1C or POLR1D (8%) cause the disease. Most of TCS cases are inherited in a dominant pattern, while a small proportion are inherited in a recessive pattern. TCS has a variable phenotype with typical clinical characteristics including downward-slant of palpebral fissure, malar hypoplasia, mandibular hypoplasia and microtia. TCS management is a multidisciplinary affair, as interventions range from reconstructive to psychosocial. For hearing rehabilitation, TCS patients may have the choices of BAHA, ponto, vibrant soundbridge or bonebridge implantation. In this review, we summarize the TCS clinical malformations, diagnosis, genetics, management and auditory rehabilitation.