Brief Communication
Isolated Microtia With Anterior Hemispheric Polymicrogyria
Journal of Child Neurology 2015, Vol. 30(8) 1086-1088 ª The Author(s) 2014 Reprints and permission: sagepub.com/journalsPermissions.nav DOI: 10.1177/0883073814544367 jcn.sagepub.com
Birendra Rai, MBBS, MD, MRCPI1, Rudra Gouda, MBBS, DCH, MD2, Sudha Moka, MBBS1, and Liz Elizabeth Dunbar, BSc, Med, BMBS1
Abstract We report on a male infant who presented with neonatal clonic seizure and was found to have isolated left-sided microtia on clinical examination. Magnetic resonance imaging (MRI) of the brain revealed extensive polymicrogyria over the bilateral perisylvian and frontal cortex. He had no other associated anomaly on physical examination, genetics, metabolic, and radio imaging studies. The study of the data collected from the Italian Birth Defect Registry reported the incidence of microtia-anotia as 1.46/10 000. Microtia-anotia can also be found in association with other anomalies that characterizes oculo-auriculo-vertebral spectrum. Although oculo-auriculo-vertebral spectrum has been associated with various cerebral malformations, isolated microtia usually does not have such association. We could not find any report of polymicrogyria in a case of isolated microtia. Keywords isolated microtia anotia, polymicrogyria, oculo-auriculo-vertebral spectrum Received April 05, 2014. Received revised June 07, 2014. Accepted for publication June 19, 2014.
Microtia-anotia is a rare entity. It presents as an isolated entity in most of the instances except in certain circumstances in which it can be found in association with other features of oculo-auriculo-vertebral spectrum complex. It is rarely associated with serious anomalies of other organ systems, in contrast to the associations of some forms of oculo-auriculo-vertebral spectrum. Oculo-auriculo-vertebral spectrum is associated with ear defects, ocular malformations, vertebral anomalies, cerebral anomalies, and cardiac defects in varying proportions.
Case Summary A 3-day-old male infant was referred for evaluation of clonic seizures, which started from the second day of life. He was born at full term from a nonconsanguinous marriage by spontaneous vaginal delivery. He required no resuscitative efforts at birth. An abnormal left ear was noted at birth. Birth weight, length, and head circumference were 3.2 kg, 49 cm, and 32 cm, respectively. His mother was gravida 1 and she denied any antenatal intake of alcohol and abusive or teratogenic drugs. The infant developed multifocal clonic seizures on day 2 of life, which were treated with phenobarbitone. On arrival at the secondary hospital he was on maintenance dose of phenobarbitone, with no seizure events in the preceding 72 hours. Examination revealed isolated low-set left-sided deformed pinna with completely atretic left external auditory meatus (Figure 1). The right ear was normally formed. He had no other dysmorphic features. Systemic and neurologic
examinations were within normal limits. No features of facial diplegia were noted. He required nasogastric supplementation of feeds because of poor suck and swallow co-ordination. This was continued until full oral feeds were established at 4 months of age. Blood tests revealed normal full blood counts, urea, electrolytes, liver function tests, thyroid function tests, and creatine kinase level. Bloods for metabolic panel were also normal. Cytogenetic analysis revealed normal male karyotype, and targeted array based comparative genomic hybridization could not detect any genetic mutation. Electroencephalography (EEG) on arrival showed marked abnormal discharges with a spike and wave pattern mainly over the bilateral frontal and parietal cortex. Magnetic resonance imaging (MRI) of the brain revealed extensive polymicrogyria over the bilateral perisylvian region and frontal lobes (Figure 2). Hearing tests revealed marked conductive loss on the left side with normal hearing on right side. Abdominal and renal ultrasonography, echocardiography, and MRI of the spine were normal. He was discharged home on anticonvulsants. On follow-up at 18 months of age, he was found to have mild gross motor and fine motor delay in
1 2
Department of Pediatrics, Midland Regional Hospital, Mullingar, Ireland Bankura Sammilani Medical College, Bankura, India
Corresponding Author: Birendra Rai, MBBS, MD, MRCPI, Department of Pediatrics, Midland Regional Hospital, Mullingar, Ireland. Email: [email protected]
Downloaded from jcn.sagepub.com at CAMBRIDGE UNIV LIBRARY on August 8, 2015
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Figure 1. Left side of the face showing deformed pinna with atretic external auditory canal.
addition to moderate speech and language delay. His head circumference at 18 months of age was 44 cm (0.4th centile, UK-WHO Growth charts). Currently he is being looked after by the early intervention team, and his seizures are well controlled with sodium valproate. Left ear reconstructive surgery has been planned at 3 years of age.
Discussion Microtia-anotia is the term coined to describe the deformed external ear and it includes a wide spectrum of physical deformities of the external ear. It is seen in almost 100% of patients with oculo-auriculo-vertebral spectrum complex.1 It can also be present as an isolated finding with no other abnormalities in either ocular or vertebral systems. Though some authors have speculated the possibility of microtia-anotia as the mildest form of oculo-auriculo-vertebral spectrum,2 a study of the data collected from the Italian Birth Defect Registry reported the incidence of Microtia-anotia as 1.46/10 000. In the aforementioned cohort of microtia-anotia patients, 66% were found to have the isolated defect with no other systemic associations.3 Alasti et al in his recent study (2009) reported the estimated prevalence of microtia as 0.8 to 4.2/10 000 birth with male preponderance.4 Seventy percent of isolated microtiaanotia lesions are unilateral, with right-sided lesions being more common. Among other associated anomalies that can fulfil the diagnosis of oculo-auriculo-vertebral spectrum are eye (70%), vertebral (65%), and cerebral (50%) abnormalities as well as congenital heart defects (35%). Furthermore, among reported cerebral malformations associated with oculo-auriculo-vertebral spectrum (also known as Goldenhar syndrome), the more common ones include skull
Figure 2. Magnetic resonance imaging (MRI) of the brain showing extensive polymicrogyria extending from bilateral perisylvian fissure over to the frontal lobes.
deformity, hydrocephalus, corpus callosal agenesis, and cerebral hypoplasia.5,6 Holoprosencephaly, occipital encephalocele, intracranial lipoma, teratoma, dermoid cyst, and Arnold-Chiari malformations have also been reported in a few patients.7 Incidence of cerebral malformation has been shown to increase with the presence of ocular anomaly.6 Isolated microtia has very rarely been associated with any cranial deformities. Given the less frequent association of isolated microtia with intracranial abnormalities, it is important for clinicians to bear in mind that even isolated microtia at times may be associated with serious intracranial deformity such as polymicrogyria. Polymicrogyria has not been reported so far in medical literature either with isolated microtia or oculo-auriculo-vertebral spectrum. Author Contributions BR reviewed the literature and drafted the manuscript. RG provided literature support. SM was responsible for patient management and follow-up. LED critically revised the manuscript for intellectual content.
Declaration of Conflicting Interests The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
Funding The authors received no financial support for the research, authorship, and/or publication of this article.
Downloaded from jcn.sagepub.com at CAMBRIDGE UNIV LIBRARY on August 8, 2015
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Journal of Child Neurology 30(8)
References 1. Stro¨mland K, Miller M, Sjo¨green L, et al. Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors. Am J Med Genet A. 2007;143A:1317-1325. 2. Llano-Rivas I, Gonza´lez-del Angel A, del Castillo V, et al. Microtia: a clinical and genetic study at the National Institute of Pediatrics in Mexico City. Arch Med Res. 1999;30:120-124. 3. Mastroiacovo P, Corchia C, Botto LD, et al. Epidemiology and genetics of microtia-anotia: a registry based study on over one million births. J Med Genet. 1995;32:453-457.
4. Alasti F, Van Camp G. Genetics of microtia and associated syndromes. J Med Genet. 2009;46:361-369. 5. Rosa RF, Graziadio C, Lenhardt R, et al. Central nervous system abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome). Arq Neuropsiquiatr. 2010;68: 98-102. 6. Thorbeck R. Goldenhar’s syndrome and hydrocephalus [in German]. Monatsschr Kinderheilkd. 1982;130:47-49. 7. Wilson GN. Cranial defects in the Goldenhar syndrome. Am J Med Genet. 1983;14:435-443.
Downloaded from jcn.sagepub.com at CAMBRIDGE UNIV LIBRARY on August 8, 2015
Isolated Microtia With Anterior Hemispheric Polymicrogyria
Journal of Child Neurology 2015, Vol. 30(8) 1086-1088 ª The Author(s) 2014 Reprints and permission: sagepub.com/journalsPermissions.nav DOI: 10.1177/0883073814544367 jcn.sagepub.com
Birendra Rai, MBBS, MD, MRCPI1, Rudra Gouda, MBBS, DCH, MD2, Sudha Moka, MBBS1, and Liz Elizabeth Dunbar, BSc, Med, BMBS1
Abstract We report on a male infant who presented with neonatal clonic seizure and was found to have isolated left-sided microtia on clinical examination. Magnetic resonance imaging (MRI) of the brain revealed extensive polymicrogyria over the bilateral perisylvian and frontal cortex. He had no other associated anomaly on physical examination, genetics, metabolic, and radio imaging studies. The study of the data collected from the Italian Birth Defect Registry reported the incidence of microtia-anotia as 1.46/10 000. Microtia-anotia can also be found in association with other anomalies that characterizes oculo-auriculo-vertebral spectrum. Although oculo-auriculo-vertebral spectrum has been associated with various cerebral malformations, isolated microtia usually does not have such association. We could not find any report of polymicrogyria in a case of isolated microtia. Keywords isolated microtia anotia, polymicrogyria, oculo-auriculo-vertebral spectrum Received April 05, 2014. Received revised June 07, 2014. Accepted for publication June 19, 2014.
Microtia-anotia is a rare entity. It presents as an isolated entity in most of the instances except in certain circumstances in which it can be found in association with other features of oculo-auriculo-vertebral spectrum complex. It is rarely associated with serious anomalies of other organ systems, in contrast to the associations of some forms of oculo-auriculo-vertebral spectrum. Oculo-auriculo-vertebral spectrum is associated with ear defects, ocular malformations, vertebral anomalies, cerebral anomalies, and cardiac defects in varying proportions.
Case Summary A 3-day-old male infant was referred for evaluation of clonic seizures, which started from the second day of life. He was born at full term from a nonconsanguinous marriage by spontaneous vaginal delivery. He required no resuscitative efforts at birth. An abnormal left ear was noted at birth. Birth weight, length, and head circumference were 3.2 kg, 49 cm, and 32 cm, respectively. His mother was gravida 1 and she denied any antenatal intake of alcohol and abusive or teratogenic drugs. The infant developed multifocal clonic seizures on day 2 of life, which were treated with phenobarbitone. On arrival at the secondary hospital he was on maintenance dose of phenobarbitone, with no seizure events in the preceding 72 hours. Examination revealed isolated low-set left-sided deformed pinna with completely atretic left external auditory meatus (Figure 1). The right ear was normally formed. He had no other dysmorphic features. Systemic and neurologic
examinations were within normal limits. No features of facial diplegia were noted. He required nasogastric supplementation of feeds because of poor suck and swallow co-ordination. This was continued until full oral feeds were established at 4 months of age. Blood tests revealed normal full blood counts, urea, electrolytes, liver function tests, thyroid function tests, and creatine kinase level. Bloods for metabolic panel were also normal. Cytogenetic analysis revealed normal male karyotype, and targeted array based comparative genomic hybridization could not detect any genetic mutation. Electroencephalography (EEG) on arrival showed marked abnormal discharges with a spike and wave pattern mainly over the bilateral frontal and parietal cortex. Magnetic resonance imaging (MRI) of the brain revealed extensive polymicrogyria over the bilateral perisylvian region and frontal lobes (Figure 2). Hearing tests revealed marked conductive loss on the left side with normal hearing on right side. Abdominal and renal ultrasonography, echocardiography, and MRI of the spine were normal. He was discharged home on anticonvulsants. On follow-up at 18 months of age, he was found to have mild gross motor and fine motor delay in
1 2
Department of Pediatrics, Midland Regional Hospital, Mullingar, Ireland Bankura Sammilani Medical College, Bankura, India
Corresponding Author: Birendra Rai, MBBS, MD, MRCPI, Department of Pediatrics, Midland Regional Hospital, Mullingar, Ireland. Email: [email protected]
Downloaded from jcn.sagepub.com at CAMBRIDGE UNIV LIBRARY on August 8, 2015
Rai et al
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Figure 1. Left side of the face showing deformed pinna with atretic external auditory canal.
addition to moderate speech and language delay. His head circumference at 18 months of age was 44 cm (0.4th centile, UK-WHO Growth charts). Currently he is being looked after by the early intervention team, and his seizures are well controlled with sodium valproate. Left ear reconstructive surgery has been planned at 3 years of age.
Discussion Microtia-anotia is the term coined to describe the deformed external ear and it includes a wide spectrum of physical deformities of the external ear. It is seen in almost 100% of patients with oculo-auriculo-vertebral spectrum complex.1 It can also be present as an isolated finding with no other abnormalities in either ocular or vertebral systems. Though some authors have speculated the possibility of microtia-anotia as the mildest form of oculo-auriculo-vertebral spectrum,2 a study of the data collected from the Italian Birth Defect Registry reported the incidence of Microtia-anotia as 1.46/10 000. In the aforementioned cohort of microtia-anotia patients, 66% were found to have the isolated defect with no other systemic associations.3 Alasti et al in his recent study (2009) reported the estimated prevalence of microtia as 0.8 to 4.2/10 000 birth with male preponderance.4 Seventy percent of isolated microtiaanotia lesions are unilateral, with right-sided lesions being more common. Among other associated anomalies that can fulfil the diagnosis of oculo-auriculo-vertebral spectrum are eye (70%), vertebral (65%), and cerebral (50%) abnormalities as well as congenital heart defects (35%). Furthermore, among reported cerebral malformations associated with oculo-auriculo-vertebral spectrum (also known as Goldenhar syndrome), the more common ones include skull
Figure 2. Magnetic resonance imaging (MRI) of the brain showing extensive polymicrogyria extending from bilateral perisylvian fissure over to the frontal lobes.
deformity, hydrocephalus, corpus callosal agenesis, and cerebral hypoplasia.5,6 Holoprosencephaly, occipital encephalocele, intracranial lipoma, teratoma, dermoid cyst, and Arnold-Chiari malformations have also been reported in a few patients.7 Incidence of cerebral malformation has been shown to increase with the presence of ocular anomaly.6 Isolated microtia has very rarely been associated with any cranial deformities. Given the less frequent association of isolated microtia with intracranial abnormalities, it is important for clinicians to bear in mind that even isolated microtia at times may be associated with serious intracranial deformity such as polymicrogyria. Polymicrogyria has not been reported so far in medical literature either with isolated microtia or oculo-auriculo-vertebral spectrum. Author Contributions BR reviewed the literature and drafted the manuscript. RG provided literature support. SM was responsible for patient management and follow-up. LED critically revised the manuscript for intellectual content.
Declaration of Conflicting Interests The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
Funding The authors received no financial support for the research, authorship, and/or publication of this article.
Downloaded from jcn.sagepub.com at CAMBRIDGE UNIV LIBRARY on August 8, 2015
1088
Journal of Child Neurology 30(8)
References 1. Stro¨mland K, Miller M, Sjo¨green L, et al. Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors. Am J Med Genet A. 2007;143A:1317-1325. 2. Llano-Rivas I, Gonza´lez-del Angel A, del Castillo V, et al. Microtia: a clinical and genetic study at the National Institute of Pediatrics in Mexico City. Arch Med Res. 1999;30:120-124. 3. Mastroiacovo P, Corchia C, Botto LD, et al. Epidemiology and genetics of microtia-anotia: a registry based study on over one million births. J Med Genet. 1995;32:453-457.
4. Alasti F, Van Camp G. Genetics of microtia and associated syndromes. J Med Genet. 2009;46:361-369. 5. Rosa RF, Graziadio C, Lenhardt R, et al. Central nervous system abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome). Arq Neuropsiquiatr. 2010;68: 98-102. 6. Thorbeck R. Goldenhar’s syndrome and hydrocephalus [in German]. Monatsschr Kinderheilkd. 1982;130:47-49. 7. Wilson GN. Cranial defects in the Goldenhar syndrome. Am J Med Genet. 1983;14:435-443.
Downloaded from jcn.sagepub.com at CAMBRIDGE UNIV LIBRARY on August 8, 2015
