RESUMEN
tRNA synthetase deficiencies are a growing group of genetic diseases associated with tissue-specific, mostly neurological, phenotypes. In cattle, cytosolic isoleucyl-tRNA synthetase (IARS) missense mutations cause hereditary weak calf syndrome. Exome sequencing in three unrelated individuals with severe prenatal-onset growth retardation, intellectual disability, and muscular hypotonia revealed biallelic mutations in IARS. Studies in yeast confirmed the pathogenicity of identified mutations. Two of the individuals had infantile hepatopathy with fibrosis and steatosis, leading in one to liver failure in the course of infections. Zinc deficiency was present in all affected individuals and supplementation with zinc showed a beneficial effect on growth in one.
Asunto(s)
Alelos , Retardo del Crecimiento Fetal/genética , Discapacidad Intelectual/genética , Isoleucina-ARNt Ligasa/genética , Hepatopatías/congénito , Hepatopatías/genética , Hipotonía Muscular/congénito , Hipotonía Muscular/genética , Mutación , Adolescente , Animales , Niño , Preescolar , Suplementos Dietéticos , Hígado Graso/genética , Femenino , Fibrosis/genética , Humanos , Lactante , Recién Nacido , Isoleucina-ARNt Ligasa/deficiencia , Fallo Hepático/genética , Masculino , Síndrome , Pez Cebra/genética , Zinc/administración & dosificación , Zinc/deficiencia , Zinc/uso terapéuticoRESUMEN
BACKGROUND: Coronoid hyperplasia (CH) is an abnormal bony elongation of a histologically normal coronoid process. Its definitive cause remains unknown. OBJECTIVES: To analyze the possible implication of congenital hypotonia in the pathogenesis of early coronoid overgrowth. PATIENTS AND METHODS: Two infants with congenital hypotonia were evaluated for limited mouth aperture. Bilateral CH was diagnosed. Transoral coronoidectomy was followed by an early dynamic physiotherapy program. RESULTS: Significant improvement of maximum interincisal opening was achieved. The review of the scientific literature proved the diagnosis of CH in the infant age group is extremely unusual and the etiology of the condition is still uncertain. CONCLUSIONS: Besides mouth opening restriction, clinical features of coronoid hyperplasia in infants can include suction or deglutition anomalies, failure to thrive and recurrent episodes of choking or aspiration pneumonia. The authors hypothesize reduced fetal mandibular movements and deglutition as a result of congenital hypotonia may lead to relative hyperactivity of the temporalis muscle that is not counterbalanced by the infra and suprahyoid muscles, thereby facilitating coronoid overgrowth.
Asunto(s)
Mandíbula/patología , Músculos Masticadores/patología , Hipotonía Muscular/congénito , Anomalías Múltiples/patología , Artrogriposis/patología , Cara/anomalías , Cara/patología , Estudios de Seguimiento , Gastrostomía , Enfermedades Hematológicas/patología , Humanos , Hiperplasia , Lactante , Masculino , Mandíbula/cirugía , Manipulaciones Musculoesqueléticas , Rango del Movimiento Articular/fisiología , Traqueostomía , Enfermedades Vestibulares/patologíaRESUMEN
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