RESUMO
A female infant born at 38 weeks and 2 days via induced vaginal delivery was admitted to the neonatal intensive care unit for respiratory distress soon after birth. Noted to have aphonia on examination, the patient underwent direct laryngoscopy and was diagnosed with an anterior glottic web and subglottic stenosis. The patient underwent a genetic workup including whole exome sequencing which resulted in a diagnosis of a FREM1-associated disorder. Congenital glottic webs and subglottic stenoses have not been previously described as clinical manifestations of FREM1-associated disorders.
Assuntos
Afonia , Laringoscopia , Laringoestenose , Síndrome do Desconforto Respiratório do Recém-Nascido , Humanos , Recém-Nascido , Feminino , Afonia/genética , Afonia/diagnóstico , Laringoestenose/diagnóstico , Laringoestenose/genética , Síndrome do Desconforto Respiratório do Recém-Nascido/etiologia , Síndrome do Desconforto Respiratório do Recém-Nascido/diagnóstico , GloteRESUMO
OBJECTIVES: In dystonia the formulation of a clinical syndrome is paramount to refine the list of etiologies. We here describe the rare association of dystonia with anarthria/aphonia, by examining a large cohort of patients, to provide a narrow field of underlying conditions and a practical algorithmic approach to reach diagnosis. METHODS: We retrospectively reviewed cases, which were evaluated between 2005 and 2014, to identify those with dystonia combined with marked anarthria and/or aphonia. We reviewed demographic information, clinical characteristics, as well as clinico-genetic investigations. We evaluated video material where available. RESULTS: From 860 cases with dystonia as the predominant motor feature, we identified 32 cases (3.7%) with anarthria/aphonia. Age at neurological symptom onset was variable, but the majority of cases (n = 20) developed symptoms within their first eight years of life. A conclusive diagnosis was reached in 27 cases. Monoamine neurotransmitter disorders, neurodegeneration with brain iron accumulation syndromes, hypomyelination with atrophy of the basal ganglia and cerebellum, and syndromes with inborn errors of metabolism were the most common diagnoses. Brain MRI was crucial for reaching a diagnosis by examining the structural integrity of the basal ganglia, the cerebral cortex, brain myelination and whether there was abnormal metal deposition. Pathophysiological mechanisms underlying anarthria/aphonia included dystonia, corticobulbar involvement, apraxia and abnormalities of brain development. CONCLUSIONS: The spectrum of conditions that may present with the syndrome of dystonia with anarthria/aphonia is broad. Various causes may account for the profound speech disturbance. A practical brain MRI-based algorithm is provided to aid the diagnostic procedure.
Assuntos
Afonia/complicações , Distonia/complicações , Adolescente , Adulto , Idade de Início , Afonia/diagnóstico por imagem , Afonia/genética , Encéfalo/diagnóstico por imagem , Hidrolases de Éster Carboxílico/genética , Criança , Pré-Escolar , Distonia/diagnóstico por imagem , Distonia/genética , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Fosfotransferases (Aceptor do Grupo Álcool)/genética , Estudos Retrospectivos , Adulto JovemRESUMO
Sulcus vocalis is the presence of a groove extending along the vibratory surface of a vocal fold and may result in dysphonia. Depending on the level of severity, this condition may require treatment involving complicated surgical techniques. Cases of sulcus vocalis are classified as physiological, vergeture, or pouch type. A clear explanation of the etiology has not been established, and the currently proposed congenital origin, as described in the literature, remains controversial. This paper presents findings from monozygotic twin sisters with bilateral sulcus vocalis; these patients had similar morphologies, vibratory characteristics, and vocal quality measurements, which support the theory of a congenital etiology.