RESUMEN
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH), a type of overgrowth syndrome, is characterized by progressive megalencephaly, cortical brain malformations, and distal limb anomalies. Previous studies have revealed that the overactivity of the phosphatidylinositol 3-kinase-Protein kinase B pathway and the increased cyclin D2 (CCND2) expression were the main factors contributing to this disease. Here, we present the case of a patient who exhibited megalencephaly, polymicrogyria, abnormal neuronal migration, and developmental delay. Serum tandem mass spectrometry and chromosome examination did not detect any metabolic abnormalities or copy number variants. However, whole-exome sequencing and Sanger sequencing revealed a de novo nonsense mutation (NM_001759.3: c.829C>T; p.Gln277X) in the CCND2 gene of the patient. Bioinformatics analysis predicted that this mutation may disrupt the structure and surface charge of the CCND2 protein. This disruption could potentially prevent polyubiquitination of CCND2, leading to its resistance against degradation. Consequently, this could drive cell division and growth by altering the activity of key cell cycle regulatory nodes, ultimately contributing to the development of MPPH. This study not only presents a new case of MPPH and expands the mutation spectrum of CCND2 but also enhances our understanding of the mechanisms connecting CCND2 with overgrowth syndromes.
Asunto(s)
Ciclina D2 , Megalencefalia , Polidactilia , Polimicrogiria , Femenino , Humanos , Masculino , Codón sin Sentido/genética , Ciclina D2/genética , Secuenciación del Exoma , Hidrocefalia , Malformaciones del Desarrollo Cortical , Megalencefalia/genética , Megalencefalia/diagnóstico , Polidactilia/genética , Polidactilia/diagnóstico , Polimicrogiria/genética , Polimicrogiria/diagnóstico , PreescolarRESUMEN
Congenital cytomegalovirus (CMV) infection can cause severe neurological sequelae or even fetal death. We present a 17-year-old pregnant woman with fetal CMV infection, leading to voluntary termination of pregnancy. Fetopsy demonstrated a brainstem hemorrhage and focal polymicrogyria. CMV inclusions were observed in the lung, liver, thyroid, pancreas, kidneys, adrenal, placenta, and central nervous system. Intracranial hemorrhage is a rare finding in the context of congenital CMV infection, with isolated brainstem hemorrhage being an exceptional form of presentation. Polymicrogyria appears to be a more frequent finding, although its actual incidence is unknown. Future studies are needed to determine the causal association.
Asunto(s)
Infecciones por Citomegalovirus , Polimicrogiria , Complicaciones Infecciosas del Embarazo , Embarazo , Femenino , Humanos , Adolescente , Polimicrogiria/diagnóstico , Polimicrogiria/complicaciones , Infecciones por Citomegalovirus/complicaciones , Infecciones por Citomegalovirus/diagnóstico , Infecciones por Citomegalovirus/congénito , Tronco Encefálico , Hemorragia/complicacionesRESUMEN
Basel-Vanagaite-Smirin-Yosef syndrome (BVSYS) is an extremely rare autosomal recessive genetic disorder caused by variants in the MED25 gene. It is characterized by severe developmental delay and variable craniofacial, neurological, ocular, and cardiac anomalies. Since 2015, through whole exome sequencing, 20 patients have been described with common clinical features and biallelic variants in MED25, leading to a better definition of the phenotype associated with BVSYS. We report two young sisters, born to consanguineous parents, presenting with intellectual disability, neurological findings, and dysmorphic features typical of BVSYS, and also with bilateral perisylvian polymicrogyria. The younger sister died at the age of 1 year without autoptic examination. Whole exome sequencing detected a homozygous frameshift variant in the MED25 gene: NM_030973.3:c.1778_1779delAG, p.(Gln593Argfs). This report further delineates the most common clinical features of BVSYS and points to polymicrogyria as a distinctive neuroradiological feature of this syndrome.
Asunto(s)
Anomalías Múltiples/genética , Discapacidades del Desarrollo/genética , Discapacidad Intelectual/genética , Malformaciones del Desarrollo Cortical/genética , Complejo Mediador/genética , Mutación/genética , Polimicrogiria/genética , Niño , Hibridación Genómica Comparativa , Femenino , Humanos , Masculino , Linaje , Fenotipo , Polimicrogiria/diagnósticoRESUMEN
The PI3K/AKT/mTOR signaling pathway is a critical mediator of cell functions. Activating mutations of this pathway are known to disturb normal growth and development, leading to a range of overgrowth and neurologic syndromes. We report a case of megalencephaly-polymicrogyria-pigmentary mosaicism syndrome (MPPM) in novel association with MTOR pathogenic variant c.6644C>A (p.Ser2215Tyr) and neonatal evanescent skin findings. This case highlights the importance of a thorough newborn cutaneous examination, as this initial window offers a critical opportunity for potential prognostication and surveillance for neurological sequelae.
Asunto(s)
Megalencefalia , Polimicrogiria , Humanos , Recién Nacido , Megalencefalia/diagnóstico , Megalencefalia/genética , Mosaicismo , Mutación , Fosfatidilinositol 3-Quinasas , Polimicrogiria/diagnóstico , Polimicrogiria/genética , Síndrome , Serina-Treonina Quinasas TOR/genéticaRESUMEN
The clinical presentation of bilateral perisylvian polymicrogyria (PMG) is highly variable, including oromotor dysfunction, epilepsy, intellectual disability, and pyramidal signs. Extrapyramidal features are extremely rare. We present four apparently unrelated patients with a unique association of PMG with dystonia. The clinical, genetic, and radiologic features are described and possible mechanisms of dystonia are discussed. All patients were female and two were born to consanguineous families. All presented with early childhood onset dystonia. Other neurologic symptoms and signs classically seen in bilateral perisylvian PMG were observed, including oromotor dysfunction and speech abnormalities ranging from dysarthria to anarthria (4/4), pyramidal signs (3/4), hypotonia (3/4), postnatal microcephaly (1/4), and seizures (1/4). Neuroimaging showed a unique pattern of bilateral PMG with an infolded cortex originating primarily from the perisylvian region in three out of four patients. Whole exome sequencing was performed in two out of four patients and did not reveal pathogenic variants in known genes for cortical malformations or movement disorders. The dystonia seen in our patients is not described in bilateral PMG and suggests an underlying mechanism of impaired connectivity within the motor network or compromised cortical inhibition. The association of bilateral PMG with dystonia in our patients may represent a new neurogenetic disorder.
Asunto(s)
Anomalías Múltiples/diagnóstico , Distonía/diagnóstico , Trastornos Distónicos/diagnóstico , Discapacidad Intelectual/diagnóstico , Malformaciones del Desarrollo Cortical/diagnóstico , Polimicrogiria/diagnóstico , Anomalías Múltiples/diagnóstico por imagen , Anomalías Múltiples/fisiopatología , Adolescente , Adulto , Corteza Cerebral/diagnóstico por imagen , Corteza Cerebral/fisiopatología , Niño , Preescolar , Distonía/complicaciones , Distonía/diagnóstico por imagen , Distonía/fisiopatología , Trastornos Distónicos/diagnóstico por imagen , Trastornos Distónicos/fisiopatología , Electroencefalografía , Epilepsia/complicaciones , Epilepsia/diagnóstico , Epilepsia/diagnóstico por imagen , Epilepsia/fisiopatología , Femenino , Humanos , Discapacidad Intelectual/diagnóstico por imagen , Discapacidad Intelectual/fisiopatología , Imagen por Resonancia Magnética , Malformaciones del Desarrollo Cortical/diagnóstico por imagen , Malformaciones del Desarrollo Cortical/fisiopatología , Neuroimagen/métodos , Polimicrogiria/complicaciones , Polimicrogiria/diagnóstico por imagen , Polimicrogiria/fisiopatología , Adulto JovenAsunto(s)
Circulación Cerebrovascular , Enfermedades Fetales/diagnóstico , Polimicrogiria/diagnóstico , Síndrome de Sturge-Weber/diagnóstico , Adulto , Electroencefalografía , Femenino , Humanos , Recién Nacido , Imagen por Resonancia Magnética , Neuroimagen/métodos , Polimicrogiria/etiología , Embarazo , Espectroscopía Infrarroja Corta , Síndrome de Sturge-Weber/complicacionesRESUMEN
Polymicrogyria (PMG) is one of the most common malformations of cortical development (MCDs), with epilepsy affecting most patients. PMG-related drug-resistant epilepsy patients can be considered for epilepsy surgery in well-selected cases. In this context, a comprehensive presurgical evaluation, often including stereo-electroencephalography (SEEG), is warranted to accurately delineate the epileptogenic zone. The heterogeneity of intrinsic epileptogenicity in PMG, together with the additional or predominant involvement of remote cortical areas, calls for a different strategy in PMG compared to other MCDs, namely one that is not predominantly MRI- but rather SEEG-oriented. Favourable results in terms of seizure freedom and antiepileptic drug cessation are feasible in a large proportion of patients with unilateral PMG. PMG extent should not deter from exploring the possibility of epilepsy surgery. On the other hand, patients with hemispheric PMG can be excellent hemispherotomy candidates, particularly when presenting with contralateral hemiparesis. Recent findings support the early consideration of surgery in PMG-related drug-resistant epilepsy.
Asunto(s)
Epilepsia Refractaria/cirugía , Electroencefalografía , Polimicrogiria/cirugía , Técnicas Estereotáxicas , Epilepsia Refractaria/diagnóstico , Epilepsia Refractaria/etiología , Epilepsia Refractaria/fisiopatología , Humanos , Polimicrogiria/complicaciones , Polimicrogiria/diagnóstico , Polimicrogiria/fisiopatologíaRESUMEN
Zellweger syndrome is the most severe form of a group of autosomal recessive disorders with defective peroxisomes. We report a case of Zellweger syndrome in a newborn baby, which was first suspected by the presence of scimitar-like patella seen on skeletal survey. The subsequent brain MRI showed germinolytic cysts and polymicrogyria, which furthered the suspicion. Laboratory and genetic results confirmed the diagnosis. To date, there are a limited number of case reports of this rare disease. We emphasize skeletal findings that can lead to targeted genetic and laboratory testing and hence earlier diagnosis.
Asunto(s)
Enfermedades Musculoesqueléticas/diagnóstico , Osteogénesis , Rótula/patología , Síndrome de Zellweger/diagnóstico , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Quistes/diagnóstico , Quistes/etiología , Femenino , Humanos , Recién Nacido , Imagen por Resonancia Magnética/métodos , Enfermedades Musculoesqueléticas/etiología , Polimicrogiria/diagnóstico , Polimicrogiria/etiología , Síndrome de Zellweger/diagnóstico por imagen , Síndrome de Zellweger/patologíaRESUMEN
We identified a novel de novo heterozygous missense mutation in the NEDD4L gene (NM_015277: c.2617G>A; p.Glu873Lys) through whole-exome sequencing in a 3-year-old girl showing severe global developmental delay, infantile spasms, cleft palate, periventricular nodular heterotopia and polymicrogyria. Mutations in the HECT domain of NEDD4L have been reported in patients with a neurodevelopmental disorder along with similar brain malformations. All patients reported with NEDD4L HECT domain mutations showed periventricular nodular heterotopia, and most had seizures, cortex anomalies, cleft palate and syndactyly. The unique constellation of clinical features in patients with NEDD4L mutations might help clinically distinguish them from patients with other genetic mutations including FLNA, which is a well-known causative gene of periventricular nodular heterotopia. Although mutations in the HECT domain of NEDD4L that lead to AKT-mTOR pathway deregulation in forced expression system were reported, our western blot analysis did not show an increased level of AKT-mTOR activity in lymphoblastoid cell lines (LCLs) derived from the patient. In contrast to the forced overexpression system, AKT-mTOR pathway deregulation in LCLs derived from our patient seems to be subtle.
Asunto(s)
Fisura del Paladar/diagnóstico , Fisura del Paladar/genética , Mutación Missense , Ubiquitina-Proteína Ligasas Nedd4/genética , Heterotopia Nodular Periventricular/diagnóstico , Heterotopia Nodular Periventricular/genética , Polimicrogiria/diagnóstico , Polimicrogiria/genética , Encéfalo/anomalías , Preescolar , Análisis Mutacional de ADN , Femenino , Estudios de Asociación Genética , Humanos , Imagen por Resonancia Magnética , Dominios Proteicos/genéticaAsunto(s)
Deleción Cromosómica , Anomalías Craneofaciales/diagnóstico , Anomalías Craneofaciales/genética , Estudios de Asociación Genética , Factores de Transcripción NFI/genética , Polimicrogiria/diagnóstico , Polimicrogiria/genética , Niño , Mapeo Cromosómico , Facies , Femenino , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Imagen por Resonancia Magnética , LinajeRESUMEN
EPG5-related Vici syndrome is a rare multisystem autosomal recessive disorder characterized by corpus callosum agenesis (ACC), hypopigmentation, cataracts, acquired microcephaly, failure to thrive, cardiomyopathy and profound developmental delay, and immunodeficiency. We report here the first case of prenatally diagnosed Vici syndrome with delayed gyration associated with ACC. Trio based exome sequencing allowed the identification of a compound heterozygous mutation in the EPG5 gene. Our patient subsequently demonstrated severe developmental delay, hypopigmentation, progressive microcephaly, and failure to thrive which led to suspicion of the diagnosis. Her MRI demonstrated ACC with frontoparietal polymicrogyria, severe hypomyelination, and pontocerebellar atrophy. This prenatal presentation of malformations of cortical development in combination with ACC expands the EPG5-related phenotypic spectrum. Our report supports the idea that EPG5-related Vici syndrome is both a neurodevelopmental and neurodegenerative disorder. © 2017 Wiley Periodicals, Inc.
Asunto(s)
Agenesia del Cuerpo Calloso/diagnóstico , Agenesia del Cuerpo Calloso/genética , Mutación , Fenotipo , Polimicrogiria/diagnóstico , Polimicrogiria/genética , Proteínas/genética , Proteínas Relacionadas con la Autofagia , Exoma , Femenino , Estudios de Asociación Genética , Pruebas Genéticas , Genotipo , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Proteínas de Membrana de los Lisosomas , Imagen por Resonancia Magnética , Masculino , Embarazo , Diagnóstico Prenatal , Ultrasonografía , Proteínas de Transporte VesicularAsunto(s)
Epilepsia/fisiopatología , Polimicrogiria/fisiopatología , Polimicrogiria/cirugía , Corteza Cerebral/fisiopatología , Niño , Cognición/fisiología , Electroencefalografía/métodos , Epilepsia/diagnóstico , Epilepsia/etiología , Femenino , Humanos , Imagen por Resonancia Magnética/métodos , Memoria/fisiología , Polimicrogiria/complicaciones , Polimicrogiria/diagnósticoRESUMEN
OBJECTIVE: We explored the long-term follow-up of continuous spike-and-wave complexes during sleep (CSWS) in polymicrogyria and the anatomic volumetric variables that influence the risk of developing this age-related epileptic encephalopathy. METHODS: We performed prospective follow-up of 27 patients with polymicrogyria/CSWS (mean follow-up 14.3 years; range 2-31 years) and comparative volumetric analysis of the polymicrogyric hemispheres and ipsilateral thalami vs 3 subgroups featuring polymicrogyria without CSWS, benign rolandic epilepsy (BRE), and headache. Receiver operator characteristic analysis of the power of volumetric values was determined to predict CSWS. RESULTS: CSWS peaked between 5 and 7 years (mean age at onset 4.7 years). Remission occurred within 2 years from onset in 21%, within 4 years in 50%, and by age 13 years in 100%. We found smaller thalamic and hemispheric volumes in polymicrogyria/CSWS with respect to polymicrogyria without CSWS (p = 0.0021 for hemispheres; p = 0.0003 for thalami), BRE, and controls with headache (p < 0.0001). Volumes of the malformed hemispheres and ipsilateral thalami reliably identified the risk of incurring CSWS, with a 68-fold increased risk for values lower than optimal diagnostic cutoffs (436,150 mm(3) for malformed hemispheres or 4,616 mm(3) for ipsilateral thalami; sensitivity 92.54%; specificity 84.62%). The risk increased by 2% for every 1,000 mm(3) reduction of the polymicrogyric hemispheres and by 15% for every 100 mm(3) reduction of ipsilateral thalami. CONCLUSIONS: The polymicrogyria/CSWS syndrome is likely caused by a cortico-thalamic malformation complex and is characterized by remission of epilepsy within early adolescence. Early assessment of hemispheric and thalamic volumes in children with polymicrogyria and epilepsy can reliably predict CSWS.
Asunto(s)
Epilepsia Rolándica/diagnóstico , Epilepsia Rolándica/fisiopatología , Polimicrogiria/diagnóstico , Polimicrogiria/fisiopatología , Fases del Sueño , Tálamo/patología , Potenciales de Acción/fisiología , Niño , Preescolar , Electroencefalografía/métodos , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Estudios Prospectivos , Fases del Sueño/fisiología , SíndromeRESUMEN
We report an 8-year-old boy with a complex cerebral malformation, intellectual disability, and complex partial seizures. Whole-exome sequencing revealed a yet unreported de novo variant in the PIK3R2 gene that was recently associated with megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome and bilateral perisylvian polymicrogyria (BPP). Our patient showed cerebral abnormalities (megalencephaly, perisylvian polymicrogyria, and mega corpus callosum) that were consistent with these conditions. Imaging also showed right temporal anomalies suggestive of cortical dysplasia. Until now, only three variants (c.1117G>A (p.(G373R)), c.1126A>G (p.(K376E)) and c.1202T>C (p.(L401P))) affecting the SH2 domain of the PIK3R2 protein have been reported in MPPH and BPP syndromes. In contrast to the variants reported so far, the patient described herein exhibits the c.1669G>C (p.(D557H)) variant that affects a highly conserved residue at the interface with the PI3K catalytic subunit α. The phenotypic spectrum associated with variants in this gene and its pathway are likely to continue to expand as more cases are identified.
Asunto(s)
Agenesia del Cuerpo Calloso/genética , Malformaciones del Desarrollo Cortical/genética , Mutación Missense , Fosfatidilinositol 3-Quinasas/genética , Polimicrogiria/genética , Agenesia del Cuerpo Calloso/diagnóstico , Niño , Humanos , Masculino , Malformaciones del Desarrollo Cortical/diagnóstico , Fenotipo , Fosfatidilinositol 3-Quinasas/química , Polimicrogiria/diagnóstico , SíndromeRESUMEN
PURPOSE: To assess visual and ocular motor function in children with polymicrogyria (PMG). METHODS: The medical records of 15 children (0.4-4 years of age) with PMG documented by magnetic resonance imaging (MRI) and with age-corrected visual acuity measured by Teller acuity cards were reviewed retrospectively. Cortical function was assessed by pattern visually evoked potentials (VEP). Ocular motor function was assessed by video-oculography or clinical assessment. Results were compared to age-matched controls. RESULTS: Extent of PMG involvement varied from bilateral fronto-parietal to bilateral-diffuse. Nine children had involvement of the occipital lobe. Visual acuity at presentation was normal in 5 children (≥20/40 Snellen equivalent for age) and subnormal in 10 (average 20/200 equivalent). Visual acuity was similar in children with or without involvement of the occipital lobe (P = 0.4). Follow-up visual acuity was available for 9 children; 3 improved and 6 failed to improve (5 of whom had seizures). PMG involving the occipital lobe significantly reduced VEP amplitude and signal-to-noise ratios. Three infants without visually-guided behaviors had VEP responses. All 3 children with cytomegalovirus-related PMG without retinal disease had preserved visual function despite generalized MRI abnormalities. CONCLUSIONS: All children with PMG had recordable visual function either by visual acuity or VEP testing, however the majority did not show longitudinal improvement in acuity. Seizures may impose limits on visual acuity development. Children with cytomegalovirus-related PMG, microcephaly, and developmental delay can have normal visual acuity. Children with a recordable VEP but without visually guided behaviors may have a defect in sensorimotor transformation.
Asunto(s)
Potenciales Evocados Visuales/fisiología , Polimicrogiria/fisiopatología , Agudeza Visual/fisiología , Corteza Visual/fisiología , Preescolar , Infecciones por Citomegalovirus/diagnóstico , Infecciones por Citomegalovirus/fisiopatología , Infecciones por Citomegalovirus/virología , Movimientos Oculares/fisiología , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Polimicrogiria/diagnóstico , Polimicrogiria/virología , Estudios Retrospectivos , Pruebas de Visión/métodos , Visión Binocular/fisiologíaRESUMEN
Polymicrogyria is a significant malformation of cortical development with a high incidence of epilepsy and cognitive deficits. Graph theoretic analysis is a useful approach to studying network organization in brain disorders. In this study, we used task-free functional magnetic resonance imaging (fMRI) data from four patients with polymicrogyria and refractory epilepsy. Gray matter masks from structural MRI data were parcellated into 1,024 network nodes. Functional "connectomes" were obtained based on fMRI time series between the parcellated network nodes; network analysis was conducted using clustering coefficient, path length, node degree, and participation coefficient. These graph metrics were compared between nodes within polymicrogyric cortex and normal brain tissue in contralateral homologous cortical regions. Polymicrogyric nodes showed significantly increased clustering coefficient and characteristic path length. This is the first study using functional connectivity analysis in polymicrogyria--our results indicate a shift toward a regular network topology in polymicrogyric nodes. Regularized network topology has been demonstrated previously in patients with focal epilepsy and during focal seizures. Thus, we postulate that these network alterations predispose to seizures and may be relevant to cognitive deficits in patients with polymicrogyria.
Asunto(s)
Corteza Cerebral/fisiopatología , Conectoma , Imagen por Resonancia Magnética , Red Nerviosa/fisiopatología , Polimicrogiria/fisiopatología , Convulsiones/fisiopatología , Adulto , Conectoma/métodos , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Polimicrogiria/complicaciones , Polimicrogiria/diagnóstico , Convulsiones/diagnóstico , Convulsiones/etiología , Adulto JovenRESUMEN
Mowat-Wilson syndrome (MWS, OMIM# 235730) is a multiple congenital anomaly disorder characterized by intellectual disability, seizures, microcephaly, and distinct facial features. Additional findings include structural brain abnormalities, eye defects, congenital heart defects, Hirschsprung disease (HSCR), and genitourinary anomalies. It is caused by de novo heterozygous mutations or deletions of the ZEB2 gene on chromosome 2q21-q23. We report here on a 10-month-old boy with typical features of MWS who presented with the novel finding of polymicrogyria on brain magnetic resonance imaging. We also review the current literature regarding central nervous system anomalies in MWS.
Asunto(s)
Enfermedad de Hirschsprung/diagnóstico , Proteínas de Homeodominio/genética , Discapacidad Intelectual/diagnóstico , Microcefalia/diagnóstico , Mutación , Polimicrogiria/diagnóstico , Proteínas Represoras/genética , Anomalías Múltiples/patología , Cromosomas Humanos Par 2 , Facies , Expresión Génica , Heterocigoto , Enfermedad de Hirschsprung/complicaciones , Enfermedad de Hirschsprung/genética , Enfermedad de Hirschsprung/patología , Humanos , Lactante , Discapacidad Intelectual/complicaciones , Discapacidad Intelectual/genética , Discapacidad Intelectual/patología , Imagen por Resonancia Magnética , Masculino , Microcefalia/complicaciones , Microcefalia/genética , Microcefalia/patología , Polimicrogiria/complicaciones , Polimicrogiria/genética , Polimicrogiria/patología , Caja Homeótica 2 de Unión a E-Box con Dedos de ZincRESUMEN
Complex corneal choristoma is a rare finding and its relationship with systemic disease is poorly understood. We present a 3-day-old boy with the constellation of left-sided congenital complex corneal choristoma, limbal dermoid, ipsilateral bony skull defects, and bilateral subcutaneous vascularized nodules with overlying alopecia and scalp nevi. To our knowledge this is the first case of complex choristoma involving the presence of associated bony calvarial defects. This presentation may contribute to a greater understanding of the systemic findings associated with the condition. Furthermore, it may shed light on the possible syndromic spectrum associated with complex choristoma and its underlying pathophysiology.
Asunto(s)
Tejido Adiposo , Alopecia/diagnóstico , Cartílago , Coristoma/patología , Enfermedades de la Córnea/diagnóstico , Aparato Lagrimal , Cráneo/anomalías , Enfermedades de la Córnea/cirugía , Humanos , Hidrocefalia/diagnóstico , Recién Nacido , Imagen por Resonancia Magnética , Masculino , Polimicrogiria/diagnóstico , Tejido Subcutáneo/patología , Tomografía Computarizada por Rayos XRESUMEN
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.