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Skull base vascular anomaly in CHARGE syndrome: A case report and review
International Journal of Pediatric Otorhinolaryngology (2008) 72, 535—539
www.elsevier.com/locate/ijporl
CASE REPORT
Skull base vascular anomaly in CHARGE syndrome: A case report and review Jae-Jun Song *, Seong Keun Kwon, Chang Gun Cho, Seok-Won Park Department of Otorhinolaryngology-Head and Neck Surgery, Dongguk University International Hospital, 814 Siksa-Dong, Goyang, Gyeonggi 410-773, South Korea Received 2 November 2007; received in revised form 27 December 2007; accepted 5 January 2008 Available online 20 February 2008
KEYWORDS CHARGE syndrome; Hearing loss; Deafness
Summary CHARGE syndrome was first described by Pagon, and was named for its six major clinical features, which are; coloboma of the eye, heart defects, atresia of the choanae, retarded growth and developmental anomalies, which include CNS anomalies, genital hypoplasia and/or urinary tract anomalies, and ear anomalies and/or hearing loss. The authors experienced a case of CHARGE syndrome that displayed bilateral jugular foramen atresia and a collateral emissary vein. In addition, the authors reviewed the literatures pertaining to CHARGE syndrome. # 2008 Elsevier Ireland Ltd. All rights reserved.
1. Introduction The CHARGE association was first described in 1979 by Hall [1]. Subsequently, in 1981, Pagon et al. described the abnormalities as CHARGE syndrome [2]. CHARGE syndrome represented a cluster of features including coloboma of the eye (C), congenital heart defects (H), atresia or stenosis of the nasal choanae (A), retardation of growth or development and/or central nervous system anomalies (R), genital hypoplasia (G), and anomalies of the ear and/or deafness (E) [2]. There were also additional, less frequent anomalies including orofacial cleft, tracheoesophageal fistula, distinctive face, renal anomalies, spinal anomalies, and skeletal anomalies [3,4]. * Corresponding author. Tel.: +82 31 961 7436; fax: +82 31 961 7427. E-mail address: [email protected] (J.-J. Song).
However, skull base vascular anomaly is not reported in CHARGE syndrome. Herein, we report a case of CHARGE syndrome with skull base vascular anomaly and the clinical implication.
2. Case 6-year-old female was referred for otologic examination. She had hearing loss and decreased visual acuity after birth. She was born at 30 weeks of gestation by Caesarean section operation and weighted 2100 g at birth. Her stature and body weight was measured and found to lie under the 5th percentile and she was mildly mentally retarded. Otolaryngologic examination revealed a deformity of the external ear on both sides. The concha of external ear was triangular and there was a
0165-5876/$ — see front matter # 2008 Elsevier Ireland Ltd. All rights reserved. doi:10.1016/j.ijporl.2008.01.001
536 discontinuity between the antihelix and the antitragus. The tympanic membranes were normal. However, the right external auditory canal was smaller and shorter than the opposite side and the tympanic bone was hypoplastic. She had right side facial palsy of the peripheral type. There was no anomaly in nasal cavity or nasopharynx, but she had flattened tip of nose and an oral cavity examination revealed a bifid uvula. A multidisciplinary assessment was arranged, and a subsequent ophthalmologic examination showed microphthalmia and a large coloboma with a hypoplastic macula on the right side. She had optic disc coloboma on the left side. No abnormal findings resulted from cardiologic or genitourinary examinations. Pure tone audiometry revealed bilateral deafness, and no response was elicited during an auditory brain stem response examination. Auditory steady state response audiometry revealed a response to 120 dB stimulation on both sides. An evaluation of language development determined that her expressive and receptive speech development was much delayed for age.
J.-J. Song et al. A high resolution CT scan of the temporal bone revealed multiple inner ear anomalies, i.e., hypoplasia of the right tympanic bone, vestibular hypoplasia on both sides, incomplete partition of the cochlea on both sides, and stenosis of the internal auditory canal on both sides. However, there was no ossicular anomaly. The jugular foramen was absent on both sides, and a petrosquamosal sinus formed the emissary vein on both sides (Fig. 1A—C). CT angiography was performed to identify the suspected skull base vascular anomaly. The internal jugular vein was found to bypass the jugular foramen, to run superficially over the mastoid cortex, and to connect with the sigmoid sinus via an emissary vein on both sides (Fig. 2A and B). She had three major findings (ocular coloboma, cranial nerve anomaly, characteristic ear anomaly) and three minor findings (flattened tip of nose, growth deficiency, developmental delay) fulfilling the diagnostic criteria by Blake and Prasad [5]. She was diagnosed as CHARGE syndrome and hearing rehabilitation was planned using hearing aids and cochlear implantation.
Fig. 1 (A—C) CT image of temporal bone. (A) Lateral semicircular canals were absent and vestibules were hypoplastic on both sides. Cochlea on both sides showed incomplete partition. The petrosquamosal sinus were also present on both sides. (B) The petrosquamosal sinus formed the emissary vein on both sides. (C) Jugular fomamen was absent on both sides.
Skull base vascular anomaly in CHARGE syndrome
537
3. Discussion
Fig. 2 (A and B) 3D reconstructed images showing the abnormal course of the internal jugular vein bypassing the jugular foramen and communicating with the sigmoid sinus via a collateral emissary vein on the right (A) and left (B) sides.
CHARGE syndrome is believed to result from the abnormal differentiation of cephalic mesoderm and ectoderm (otic placode and first branchial arch), an abnormal setting of neural crest cells, an abnormal interaction of neural crests with the cephalic mesoderm and the developing forebrain, and a concomitant disorder in the development of the rhombencephalon and the associated migration of neural crest cells [6]. Classically, to make a diagnosis of CHARGE syndrome, 4/7 signs need to be present [7] and one must be either choanal atresia or a coloboma [2]. Blake proposed a renewed definition of CHARGE syndrome based on 11 criteria [3]. According to this definition a diagnosis of CHARGE is possible in the presence of the 4 major criteria or 3 major plus 3 minor criteria. Blake’s major criteria are coloboma, choanal atresia, typical ear anomalies (inner, middle, or outer), and cranial nerve dysfunction, and the minor criteria are genital hypoplasia, developmental delay, cardiovascular malformations, growth deficiency, orofacial cleft, tracheoesophageal fistula, and a distinctive face. Recently, Verloes refined these criteria [6]. Eight key features were proposed, three major (the three C‘s’; Coloboma, Choanal atresia, and semicircular Canals anomalies) and five minor (rhombencephalic anomalies, hypothalamo-hypophyseal dysfunction, external/middle ear malformations, malformation of the mediastinal viscera, and mental retardation). The presence of the three major criteria is necessary and sufficient to make a diagnosis of CHARGE, even if no other features are present. However, if 2 of the 3 major elements are present, CHARGE can be diagnosed if at least 2 of the 5 minor traits are present. CHARGE syndrome has variable clinical features. Coloboma of the eye, which is usually bilateral, is present in over 80% of diagnosed patients [2]. Moreover, heart defects are present in over 80% of patients and are predominantly right-sided. These include: atrial septal defects, ventriculoseptal defects, tetralogy of Fallot, patent ductus arteriosus, and pulmonary stenosis [3]. Bilateral atresia of the choanae caused by a membranous and/or bony obstruction is more associated with CHARGE syndrome than unilateral choanal atresia by as much as two times [8]. Bilateral choanal atresia is associated with severe polyhydramniosis in prenatal ultrasonography and also with severe feeding problems, developmental retardation, and middle ear problems [9]. Growth and developmental retardation become more obvious as the child matures. At birth, children
538 with CHARGE syndrome usually have normal weights and lengths. However, the majority of school-aged children with CHARGE syndrome are below the 3rd percentile in terms of physical growth norms [10]. The underdevelopment of external genitalia is a common finding in males, but it is more difficult to recognize in females. Microphallus, penile agenesis, hypospadias, cryptoorchidism, hypoplastic labia and clitoris are reported genital anomalies in this syndrome [5]. Major diagnostic criteria for CHARGE syndrome include cranial nerve (CN) anomalies [3], which include; CN I (anosmia) [10]; CN VII (facial palsy); CN IX/X/XI (swallowing problems, gastroesophgeal reflux, and velopharyngeal aspiration); and CN VIII (sensorineural hearing loss) [11,12]. Ear anomalies were reported in 80—100% of cases in different series and can be found to exist in every segment of the auditory system [3,13]. External ear malformation includes a classical finding of unusually shaped ears. A lack of cartilage to the outer ear with deficient seventh nerve innervation to intrinsic ear muscles produces a short and/or wide pinna with a minimal lobule, hypoplastic helix, and/ or triangular concha, the latter of which is posteriorly rotated and has a cupped, lopped, or squared shape [14]. Middle ear malformations include hypoplastic middle ear cavity, dysplastic ossicle, ossicular ankylosis, absence of stapedius muscle, and oval window atresia, an abnormal course of the facial nerve, and an emissary vein anomaly (petrosquamosal sinus) [15,16]. Inner ear abnormalities have recently been shown to be an important additional dysplasia in CHARGE syndrome [17]. These include lack of semicircular canals, cochlear aperture atresia, hypoplasia/stenosis of the internal auditory canal, lack of a cochlear nerve, Mondini deformity, and enlarged vestibular aqueducts. Moreover, aplasia of semicircular canals and vestibules are present more than 80% of scanned CHARGE children [18—20]. Hearing loss in children with CHARGE syndrome can involve conductive, sensorineural, or mixed losses. Prompt audiologic intervention is essential to help these children gain connection to the outside world, and may well influence general development. Hearing aids should be used as soon as hearing loss is documented, and when profound sensorineural HL is present, cochlear implantation may be a therapeutic option. An increasing number of reports show that cochlear implantation can be used as a successful method of intervention in children with congenital malformations of the inner ear [21,22]. Moreover recently, Lanson reported varying and limited degrees of auditory benefit with no increase in surgical complications
J.-J. Song et al. for cochlear implantation in CHARGE children [23]. There are many reports about anomalous venous drainage of skull base in non-syndromic crainosynostosis [24,25]. As far as we know, there is no report of vascular anomaly in CHARGE syndrome. Enlarged collateral emissary vein lay superficial in mastoid area in this case and any otologic procedure can compromise emissary vein and cerebral venous drainage. Only through preoperative evaluation of vascular system can prevent the iatrogenic damage.
References [1] B.D. Hall, Choanal atresia and associated multiple anomalies, J. Pediatr. 95 (3) (1979) 395—398. [2] R.A. Pagon, J.M. Graham Jr., J. Zonana, S.L. Yong, Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association, J. Pediatr. 99 (2) (1981) 223—227. [3] K.D. Blake, S.L. Davenport, B.D. Hall, M.A. Hefner, R.A. Pagon, M.S. Williams, et al., CHARGE association: an update and review for the primary pediatrician, Clin. Pediatr. (Phila) 37 (3) (1998) 159—173. [4] K.A. Issekutz, J.M. Graham Jr., C. Prasad, I.M. Smith, K.D. Blake, An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study, Am. J. Med. Genet. A 133 (3) (2005) 309—317. [5] K.D. Blake, C. Prasad, CHARGE syndrome, Orphanet. J. Rare Dis. 1 (2006) 34. [6] A. Verloes, Updated diagnostic criteria for CHARGE syndrome: a proposal, Am. J. Med. Genet. A. 133 (3) (2005) 306—308. [7] C.A. Oley, M. Baraitser, D.B. Grant, A reappraisal of the CHARGE association, J. Med. Genet. 25 (3) (1988) 147—156. [8] M. Menenzes, S.B. Coker, CHARGE and Joubert syndromes: are they a single disorder? Pediatr. Neurol. 6 (6) (1990) 428—430. [9] B.S. Hertzberg, M.A. Kliewer, R.L. Lile, Antenatal ultrasonographic findings in the CHARGE association, J. Ultrasound Med. 13 (3) (1994) 238—242. [10] K. Blake, J.M. Kirk, E. Ur, Growth in CHARGE association, Arch. Dis. Child. 68 (4) (1993) 508—509. [11] K.A. Byerly, R.M. Pauli, Cranial nerve abnormalities in CHARGE association, Am. J. Med. Genet. 45 (6) (1993) 751—757. [12] A.E. Lin, J.R. Siebert, J.M. Graham Jr., Central nervous system malformations in the CHARGE association, Am. J. Med. Genet. 37 (3) (1990) 304—310. [13] M.C. Jongmans, R.J. Admiraal, K.P. van der Donk, L.E. Vissers, A.F. Baas, L. Kapusta, et al., CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene, J. Med. Genet. 43 (4) (2006) 306—314. [14] S.L. Davenport, M.A. Hefner, J.A. Mitchell, The spectrum of clinical features in CHARGE syndrome, Clin. Genet. 29 (4) (1986) 298—310. [15] M. Lemmerling, I. Dhooge, P. Mollet, G. Mortier, P. Van Cauwenberge, M. Kunnen, CT of the temporal bone in the CHARGE association, Neuroradiology 40 (7) (1998) 462—465. [16] A.K. Morimoto, R.H. Wiggins III., P.A. Hudgins, G.L. Hedlund, B. Hamilton, S.K. Mukherji, et al., Absent semicircular
Skull base vascular anomaly in CHARGE syndrome
[17]
[18]
[19]
[20]
canals in CHARGE syndrome: radiologic spectrum of findings, AJNR Am. J. Neuroradiol. 27 (8) (2006) 1663—1671. T. Murofushi, R.A. Ouvrier, G.D. Parker, R.I. Graham, M. da Silva, G.M. Halmagyi, Vestibular abnormalities in charge association, Ann. Otol. Rhinol. Laryngol. 106 (2) (1997) 129—134. J. Amiel, T. Attiee-Bitach, R. Marianowski, V. Cormier-Daire, V. Abadie, D. Bonnet, et al., Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome, Am. J. Med. Genet. 99 (2) (2001) 124—127. D. Morgan, M. Bailey, P. Phelps, S. Bellman, A. Grace, R. Wyse, Ear—nose—throat abnormalities in the CHARGE association, Arch. Otolaryngol. Head Neck Surg. 119 (1) (1993) 49—54. I. Dhooge, M. Lemmerling, M. Lagache, L. Standaert, P. Govaert, G. Mortier, Otological manifestations of CHARGE association, Ann. Otol. Rhinol. Laryngol. 107 (11 Pt 1) (1998) 935—941.
539 [21] A.L. Woolley, V. Jenison, B.S. Stroer, R.P. Lusk, R.S. Bahadori, F.J. Wippold II., Cochlear implantation in children with inner ear malformations, Ann. Otol. Rhinol. Laryngol. 107 (6) (1998) 492—500. [22] B.C. Papsin, Cochlear implantation in children with anomalous cochleovestibular anatomy, Laryngoscope 115 (1 Pt. 2, Suppl. 106) (2005) 1—26. [23] B.G. Lanson, J.E. Green, J.T. Roland Jr., A.K. Lalwani, S.B. Waltzman, Cochlear implantation in children with CHARGE syndrome: therapeutic decisions and outcomes, Laryngoscope 117 (7) (2007) 1260—1266. [24] P.J. Anderson, W.J. Harkness, W. Taylor, B.M. Jones, R.D. Hayward, Anomalous venous drainage in a case of nonsyndromic craniosynostosis, Childs Nerv. Syst. 13 (2) (1997) 97—100. [25] D. Thompson, R. Hayward, B. Jones, Anomalous intracranial venous drainage: implications for cranial exposure in the craniofacial patient, Plast. Reconstr. Surg. 95 (6) (1995) 1126.
Available online at www.sciencedirect.com
www.elsevier.com/locate/ijporl
CASE REPORT
Skull base vascular anomaly in CHARGE syndrome: A case report and review Jae-Jun Song *, Seong Keun Kwon, Chang Gun Cho, Seok-Won Park Department of Otorhinolaryngology-Head and Neck Surgery, Dongguk University International Hospital, 814 Siksa-Dong, Goyang, Gyeonggi 410-773, South Korea Received 2 November 2007; received in revised form 27 December 2007; accepted 5 January 2008 Available online 20 February 2008
KEYWORDS CHARGE syndrome; Hearing loss; Deafness
Summary CHARGE syndrome was first described by Pagon, and was named for its six major clinical features, which are; coloboma of the eye, heart defects, atresia of the choanae, retarded growth and developmental anomalies, which include CNS anomalies, genital hypoplasia and/or urinary tract anomalies, and ear anomalies and/or hearing loss. The authors experienced a case of CHARGE syndrome that displayed bilateral jugular foramen atresia and a collateral emissary vein. In addition, the authors reviewed the literatures pertaining to CHARGE syndrome. # 2008 Elsevier Ireland Ltd. All rights reserved.
1. Introduction The CHARGE association was first described in 1979 by Hall [1]. Subsequently, in 1981, Pagon et al. described the abnormalities as CHARGE syndrome [2]. CHARGE syndrome represented a cluster of features including coloboma of the eye (C), congenital heart defects (H), atresia or stenosis of the nasal choanae (A), retardation of growth or development and/or central nervous system anomalies (R), genital hypoplasia (G), and anomalies of the ear and/or deafness (E) [2]. There were also additional, less frequent anomalies including orofacial cleft, tracheoesophageal fistula, distinctive face, renal anomalies, spinal anomalies, and skeletal anomalies [3,4]. * Corresponding author. Tel.: +82 31 961 7436; fax: +82 31 961 7427. E-mail address: [email protected] (J.-J. Song).
However, skull base vascular anomaly is not reported in CHARGE syndrome. Herein, we report a case of CHARGE syndrome with skull base vascular anomaly and the clinical implication.
2. Case 6-year-old female was referred for otologic examination. She had hearing loss and decreased visual acuity after birth. She was born at 30 weeks of gestation by Caesarean section operation and weighted 2100 g at birth. Her stature and body weight was measured and found to lie under the 5th percentile and she was mildly mentally retarded. Otolaryngologic examination revealed a deformity of the external ear on both sides. The concha of external ear was triangular and there was a
0165-5876/$ — see front matter # 2008 Elsevier Ireland Ltd. All rights reserved. doi:10.1016/j.ijporl.2008.01.001
536 discontinuity between the antihelix and the antitragus. The tympanic membranes were normal. However, the right external auditory canal was smaller and shorter than the opposite side and the tympanic bone was hypoplastic. She had right side facial palsy of the peripheral type. There was no anomaly in nasal cavity or nasopharynx, but she had flattened tip of nose and an oral cavity examination revealed a bifid uvula. A multidisciplinary assessment was arranged, and a subsequent ophthalmologic examination showed microphthalmia and a large coloboma with a hypoplastic macula on the right side. She had optic disc coloboma on the left side. No abnormal findings resulted from cardiologic or genitourinary examinations. Pure tone audiometry revealed bilateral deafness, and no response was elicited during an auditory brain stem response examination. Auditory steady state response audiometry revealed a response to 120 dB stimulation on both sides. An evaluation of language development determined that her expressive and receptive speech development was much delayed for age.
J.-J. Song et al. A high resolution CT scan of the temporal bone revealed multiple inner ear anomalies, i.e., hypoplasia of the right tympanic bone, vestibular hypoplasia on both sides, incomplete partition of the cochlea on both sides, and stenosis of the internal auditory canal on both sides. However, there was no ossicular anomaly. The jugular foramen was absent on both sides, and a petrosquamosal sinus formed the emissary vein on both sides (Fig. 1A—C). CT angiography was performed to identify the suspected skull base vascular anomaly. The internal jugular vein was found to bypass the jugular foramen, to run superficially over the mastoid cortex, and to connect with the sigmoid sinus via an emissary vein on both sides (Fig. 2A and B). She had three major findings (ocular coloboma, cranial nerve anomaly, characteristic ear anomaly) and three minor findings (flattened tip of nose, growth deficiency, developmental delay) fulfilling the diagnostic criteria by Blake and Prasad [5]. She was diagnosed as CHARGE syndrome and hearing rehabilitation was planned using hearing aids and cochlear implantation.
Fig. 1 (A—C) CT image of temporal bone. (A) Lateral semicircular canals were absent and vestibules were hypoplastic on both sides. Cochlea on both sides showed incomplete partition. The petrosquamosal sinus were also present on both sides. (B) The petrosquamosal sinus formed the emissary vein on both sides. (C) Jugular fomamen was absent on both sides.
Skull base vascular anomaly in CHARGE syndrome
537
3. Discussion
Fig. 2 (A and B) 3D reconstructed images showing the abnormal course of the internal jugular vein bypassing the jugular foramen and communicating with the sigmoid sinus via a collateral emissary vein on the right (A) and left (B) sides.
CHARGE syndrome is believed to result from the abnormal differentiation of cephalic mesoderm and ectoderm (otic placode and first branchial arch), an abnormal setting of neural crest cells, an abnormal interaction of neural crests with the cephalic mesoderm and the developing forebrain, and a concomitant disorder in the development of the rhombencephalon and the associated migration of neural crest cells [6]. Classically, to make a diagnosis of CHARGE syndrome, 4/7 signs need to be present [7] and one must be either choanal atresia or a coloboma [2]. Blake proposed a renewed definition of CHARGE syndrome based on 11 criteria [3]. According to this definition a diagnosis of CHARGE is possible in the presence of the 4 major criteria or 3 major plus 3 minor criteria. Blake’s major criteria are coloboma, choanal atresia, typical ear anomalies (inner, middle, or outer), and cranial nerve dysfunction, and the minor criteria are genital hypoplasia, developmental delay, cardiovascular malformations, growth deficiency, orofacial cleft, tracheoesophageal fistula, and a distinctive face. Recently, Verloes refined these criteria [6]. Eight key features were proposed, three major (the three C‘s’; Coloboma, Choanal atresia, and semicircular Canals anomalies) and five minor (rhombencephalic anomalies, hypothalamo-hypophyseal dysfunction, external/middle ear malformations, malformation of the mediastinal viscera, and mental retardation). The presence of the three major criteria is necessary and sufficient to make a diagnosis of CHARGE, even if no other features are present. However, if 2 of the 3 major elements are present, CHARGE can be diagnosed if at least 2 of the 5 minor traits are present. CHARGE syndrome has variable clinical features. Coloboma of the eye, which is usually bilateral, is present in over 80% of diagnosed patients [2]. Moreover, heart defects are present in over 80% of patients and are predominantly right-sided. These include: atrial septal defects, ventriculoseptal defects, tetralogy of Fallot, patent ductus arteriosus, and pulmonary stenosis [3]. Bilateral atresia of the choanae caused by a membranous and/or bony obstruction is more associated with CHARGE syndrome than unilateral choanal atresia by as much as two times [8]. Bilateral choanal atresia is associated with severe polyhydramniosis in prenatal ultrasonography and also with severe feeding problems, developmental retardation, and middle ear problems [9]. Growth and developmental retardation become more obvious as the child matures. At birth, children
538 with CHARGE syndrome usually have normal weights and lengths. However, the majority of school-aged children with CHARGE syndrome are below the 3rd percentile in terms of physical growth norms [10]. The underdevelopment of external genitalia is a common finding in males, but it is more difficult to recognize in females. Microphallus, penile agenesis, hypospadias, cryptoorchidism, hypoplastic labia and clitoris are reported genital anomalies in this syndrome [5]. Major diagnostic criteria for CHARGE syndrome include cranial nerve (CN) anomalies [3], which include; CN I (anosmia) [10]; CN VII (facial palsy); CN IX/X/XI (swallowing problems, gastroesophgeal reflux, and velopharyngeal aspiration); and CN VIII (sensorineural hearing loss) [11,12]. Ear anomalies were reported in 80—100% of cases in different series and can be found to exist in every segment of the auditory system [3,13]. External ear malformation includes a classical finding of unusually shaped ears. A lack of cartilage to the outer ear with deficient seventh nerve innervation to intrinsic ear muscles produces a short and/or wide pinna with a minimal lobule, hypoplastic helix, and/ or triangular concha, the latter of which is posteriorly rotated and has a cupped, lopped, or squared shape [14]. Middle ear malformations include hypoplastic middle ear cavity, dysplastic ossicle, ossicular ankylosis, absence of stapedius muscle, and oval window atresia, an abnormal course of the facial nerve, and an emissary vein anomaly (petrosquamosal sinus) [15,16]. Inner ear abnormalities have recently been shown to be an important additional dysplasia in CHARGE syndrome [17]. These include lack of semicircular canals, cochlear aperture atresia, hypoplasia/stenosis of the internal auditory canal, lack of a cochlear nerve, Mondini deformity, and enlarged vestibular aqueducts. Moreover, aplasia of semicircular canals and vestibules are present more than 80% of scanned CHARGE children [18—20]. Hearing loss in children with CHARGE syndrome can involve conductive, sensorineural, or mixed losses. Prompt audiologic intervention is essential to help these children gain connection to the outside world, and may well influence general development. Hearing aids should be used as soon as hearing loss is documented, and when profound sensorineural HL is present, cochlear implantation may be a therapeutic option. An increasing number of reports show that cochlear implantation can be used as a successful method of intervention in children with congenital malformations of the inner ear [21,22]. Moreover recently, Lanson reported varying and limited degrees of auditory benefit with no increase in surgical complications
J.-J. Song et al. for cochlear implantation in CHARGE children [23]. There are many reports about anomalous venous drainage of skull base in non-syndromic crainosynostosis [24,25]. As far as we know, there is no report of vascular anomaly in CHARGE syndrome. Enlarged collateral emissary vein lay superficial in mastoid area in this case and any otologic procedure can compromise emissary vein and cerebral venous drainage. Only through preoperative evaluation of vascular system can prevent the iatrogenic damage.
References [1] B.D. Hall, Choanal atresia and associated multiple anomalies, J. Pediatr. 95 (3) (1979) 395—398. [2] R.A. Pagon, J.M. Graham Jr., J. Zonana, S.L. Yong, Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association, J. Pediatr. 99 (2) (1981) 223—227. [3] K.D. Blake, S.L. Davenport, B.D. Hall, M.A. Hefner, R.A. Pagon, M.S. Williams, et al., CHARGE association: an update and review for the primary pediatrician, Clin. Pediatr. (Phila) 37 (3) (1998) 159—173. [4] K.A. Issekutz, J.M. Graham Jr., C. Prasad, I.M. Smith, K.D. Blake, An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study, Am. J. Med. Genet. A 133 (3) (2005) 309—317. [5] K.D. Blake, C. Prasad, CHARGE syndrome, Orphanet. J. Rare Dis. 1 (2006) 34. [6] A. Verloes, Updated diagnostic criteria for CHARGE syndrome: a proposal, Am. J. Med. Genet. A. 133 (3) (2005) 306—308. [7] C.A. Oley, M. Baraitser, D.B. Grant, A reappraisal of the CHARGE association, J. Med. Genet. 25 (3) (1988) 147—156. [8] M. Menenzes, S.B. Coker, CHARGE and Joubert syndromes: are they a single disorder? Pediatr. Neurol. 6 (6) (1990) 428—430. [9] B.S. Hertzberg, M.A. Kliewer, R.L. Lile, Antenatal ultrasonographic findings in the CHARGE association, J. Ultrasound Med. 13 (3) (1994) 238—242. [10] K. Blake, J.M. Kirk, E. Ur, Growth in CHARGE association, Arch. Dis. Child. 68 (4) (1993) 508—509. [11] K.A. Byerly, R.M. Pauli, Cranial nerve abnormalities in CHARGE association, Am. J. Med. Genet. 45 (6) (1993) 751—757. [12] A.E. Lin, J.R. Siebert, J.M. Graham Jr., Central nervous system malformations in the CHARGE association, Am. J. Med. Genet. 37 (3) (1990) 304—310. [13] M.C. Jongmans, R.J. Admiraal, K.P. van der Donk, L.E. Vissers, A.F. Baas, L. Kapusta, et al., CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene, J. Med. Genet. 43 (4) (2006) 306—314. [14] S.L. Davenport, M.A. Hefner, J.A. Mitchell, The spectrum of clinical features in CHARGE syndrome, Clin. Genet. 29 (4) (1986) 298—310. [15] M. Lemmerling, I. Dhooge, P. Mollet, G. Mortier, P. Van Cauwenberge, M. Kunnen, CT of the temporal bone in the CHARGE association, Neuroradiology 40 (7) (1998) 462—465. [16] A.K. Morimoto, R.H. Wiggins III., P.A. Hudgins, G.L. Hedlund, B. Hamilton, S.K. Mukherji, et al., Absent semicircular
Skull base vascular anomaly in CHARGE syndrome
[17]
[18]
[19]
[20]
canals in CHARGE syndrome: radiologic spectrum of findings, AJNR Am. J. Neuroradiol. 27 (8) (2006) 1663—1671. T. Murofushi, R.A. Ouvrier, G.D. Parker, R.I. Graham, M. da Silva, G.M. Halmagyi, Vestibular abnormalities in charge association, Ann. Otol. Rhinol. Laryngol. 106 (2) (1997) 129—134. J. Amiel, T. Attiee-Bitach, R. Marianowski, V. Cormier-Daire, V. Abadie, D. Bonnet, et al., Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome, Am. J. Med. Genet. 99 (2) (2001) 124—127. D. Morgan, M. Bailey, P. Phelps, S. Bellman, A. Grace, R. Wyse, Ear—nose—throat abnormalities in the CHARGE association, Arch. Otolaryngol. Head Neck Surg. 119 (1) (1993) 49—54. I. Dhooge, M. Lemmerling, M. Lagache, L. Standaert, P. Govaert, G. Mortier, Otological manifestations of CHARGE association, Ann. Otol. Rhinol. Laryngol. 107 (11 Pt 1) (1998) 935—941.
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