RESUMEN
OBJECTIVE: To describe the clinical, speech, hearing, and imaging findings in three members of a Brazilian family with Saethre-Chotzen syndrome (SCS) who presented some unusual characteristics within the spectrum of the syndrome. DESIGN: Clinical evaluation was performed by a multidisciplinary team. Direct sequencing of the polymerase chain reaction-amplified coding region of the TWIST1 gene, routine and electrophysiological hearing evaluation, speech evaluation, and imaging studies through computed tomography (CT) scan and magnetic resonance imaging (MRI) were performed. RESULTS: TWIST1 gene analysis revealed a Pro136His mutation in all patients. Hearing evaluation showed peripherial and mixed hearing loss in two of the patients, one of them with severe unilateral microtia. Computed tomography scan showed structural middle ear anomalies, and MRI showed distortion of the skull contour as well as some of the brain structures. CONCLUSIONS: We report a previously undescribed TWIST1 gene mutation in patients with SCS. There is evidence that indicates hearing loss (conductive and mixed) can be related both with middle ear (microtia, high jugular bulb, and enlarged vestibules) as well as with brain stem anomalies. Here we discuss the relationship between the gene mutation and the clinical, imaging, speech, and hearing findings.
Asunto(s)
Acrocefalosindactilia/genética , Oído Externo/anomalías , Oído Medio/anomalías , Perdida Auditiva Conductiva-Sensorineural Mixta/genética , Histidina/genética , Mutación/genética , Proteínas Nucleares/genética , Prolina/genética , Proteína 1 Relacionada con Twist/genética , Adolescente , Audiometría/métodos , Encéfalo/anomalías , Brasil , Niño , Femenino , Pérdida Auditiva Conductiva/genética , Humanos , Pruebas del Lenguaje , Imagen por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Hueso Temporal/anomalías , Tomografía Computarizada por Rayos X/métodosRESUMEN
We report on the clinical, neuropsychological and language characteristics of a boy with left ventricular noncompaction cardiomyopathy (LVNC), agenesis of the splenium of the corpus callosum, minor anomalies of face and limbs, mild mental retardation, and speech and language disabilities. The occurrence of pilomatricoma (calcifying epithelioma) may be part of the clinical spectrum or a fortuitous finding. Compared to other related conditions with LVNC suggests that this is a "new" unique pattern MCA/MR syndrome.
