Central nervous system abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)

Abstract

Objective: To describe the central nervous system (CNS) alterations present in a sample of oculo-auriculo-vertebral spectrum (OAVS) patients, trying to correlate them with other clinical features. Method: Seventeen patients with diagnosis of OAVS were evaluated. All presented radiological evaluation of the CNS, normal GTG-Banding karyotype and clinical features involving at least two from the four following areas: oro-cranio-facial, ocular, auricular and vertebral. results: CNS alterations were verified in eight from seventeen patients (47%). Diffuse cerebral hypoplasia, dilated lateral cerebral ventricles (asymptomatic hydrocephalus), corpus callosum dysgenesis and frontal hypodensities were the most frequent abnormalities. Presence of ophthalmologic abnormalities was the only clinical association observed, being significantly more frequent among patients with cerebral alterations (63% versus 11%). conclusion: CNS abnormalities are frequent in patients with OAVS, especially in carriers of ophthalmologic alterations. However, the absence of detectable cerebral abnormalities did not exclude the possibility that these subjects will subsequently present neurological symptoms. Key words: Goldenhar syndrome, facial asymmetry, central nervous system, eye abnormalities.Anormalidades do sistema nervoso central em pacientes com espectro óculo-aurículo-vertebral (síndrome de Goldenhar) resuMO Objetivo: Descrever as alterações do sistema nervoso central (SNC) presentes em uma amostra de pacientes com espectro óculo-aurículo-vertebral (EOAV), tentando correlacioná-las com os demais achados clínicos. Método: Foram avaliados dezessete pacientes com diagnóstico de EOAV. Todos apresentavam avaliação radiológica do SNC, cariótipo por bandas GTG normal e achados clínicos em pelo menos duas das quatro das seguintes áreas: oro-crânio-facial, ocular, auricular e vertebral. resultados: Alterações do SNC foram verificadas em oito dos dezessete pacientes (47%). Hipoplasia cerebral difusa, dilatação dos ventrículos cerebrais laterais (hidrocefalia assintomática), disgenesia do corpo caloso e hipondesidades frontais foram as anormalidades mais frequentes. A presença de anormalidades oftalmológicas foi a única associação clínica observada, sendo significativamente mais comum entre pacientes com alterações cerebrais (63% versus 11%). conclusão: Anormalidades do SNC são frequentes entre pacientes com EOAV, especialmente em portadores de alterações oftalmológicas. Entretanto, a ausência de anormalidades cerebrais detectáveis não exclui a possibilidade de que estes indivíduos venham subseqüentemente a apresentar sintomas neurológicos. Palavras-chave: síndrome de Goldenhar, assimetria facial, sistema nervoso central, anormalidades do olho.

Craniofacial abnormalities in goldenhar syndrome: a case report with review of the literature

“…[7] Microtia and other minor ear malformations such as preauricular appendages and pits, either alone or in combination, are viewed as one of the minimal criteria for diagnosing this syndrome. [18,23,26,27] Our patient had only minor ear abnormalities consisting of two preauricular tags, and this was a unilateral finding. He has not suffered any hearing disturbances or facial nerve dysfunction.…”

“…Temporal bone anomalies [15] Poorly pneumatized mastoid antrum Lengthened mastoid antrum Enlarged cartilaginous portion of the eustachian tube lumen and absence of the cartilaginous lateral lamina of the eustachian tube Cranial abnormalities [15,21] 8-85 Cranial asymmetry [15] 85 Microcephaly [15,16] 8-43 Skull defects [15] 47 Holoporencephaly/anencephaly/platybasia [15] Hypoplasia of petrous bone/ethmoid bone [15] Neurological abnormalities [18,20,27] 12-47 Diffuse cerebral hypoplasia [27] 12 Dilated lateral cerebral ventricles (asymptomatic hydrocephalus) [15,27] …”

“…Corpus callosum dysgenesis [27] 12 Frontal hypodensities [27] 12 Mental retardation [3,15,20] 23-82 Intracranial dermoid/calcifi cations [15] 30 Encephalocele [15] 13 Facial nerve paralysis [2,3,20,24] 12 Asymmetric lateral ventricles [15] Hidrocephalus due to aqueduct of sylvius stenosis [24] Corpus callosum lipoma [24] Hypoplastic/absence of septum pellucidum [15] Hypothalamic hamartoma [24] Open myelomeningocele Arnold-Chiari malformation Frontal lobe dysplasia Calcifi ed anterior falx cerebri seizures Cardiac abnormalities [2,9,17,[18][19][20]24] 5-58 Conotruncal/outlet defects [2,19,24] 38.5-45 Fallot's tetralogy [15,24] 15-50 Intraventricular communication with pulmonary atresia [24] 8 Transposition of great vessels [2] Double inlet of the left ventricle Septal defects [2,19,24] 23-32 Interatrial communication ostium secundum Interventricular communication Atrioventricular septal defect Others Patent ductus arterious [19] 4 Pulmonary artery stenosis [19] 4 Cor triatriatum [24] Dextrocardia Contd...…”

Goldenhar syndrome and medulloblastoma: A coincidental association? The first case report

“…A variety of congenital CNS abnormalities associated with Goldenhar syndromes have been reported including lipomas, cerebellar hypoplasia, agenesis/hypoplasia/dysgenesis of the corpus callosum, microcephaly, hydrocephalus secondary to stenosis of the aqueduct of Sylvius, dilated lateral cerebral ventricles, ArnoldeChiari malformation and encephaloceles. In addition, Dandy Walker variant, choroid plexus cysts, cerebellar vermis hypoplasia, intracerebral calcifications, dermoid cysts, polymicrogyria, cortical dysplasia, cranium bifidum, holoprosencephaly, unilateral arhinencephaly ipsilateral to the side of the Goldenhar microtia and HFM, asymmetric lateral cerebral ventricles, absence of septum pellucidum, porencephalic cyst and teratomas have been reported (Aleksic et al, 1984;Schrander-Stumpel et al, 1992;Naidich et al, 1996;Tasse et al, 2005;Touliatou et al, 2006;Engiz et al, 2007;Rosa et al, 2010).…”

Goldenhar Syndrome: Case Report

“…3,4 The etiology may be related to an anomaly in migration defect of neural crest cells or could be due to predisposed genetic determinant. Some studies document families with autosomal recessive or dominant inheritance, it contains several descriptions of chromosomal anomalies and gestational exposure that mimic its phenotype.…”