RESUMEN
Coats plus syndrome (CP) is a rare condition characterized by bilateral exudative retinal telangiectasias with associated systemic disorders primarily affecting the brain, bone and gastrointestinal tract due to a mutation in the CTC1 gene. CTC1 mutations are also known to cause dyskeratosis congenita (DC), which is an inherited bone marrow failure syndrome characterized by skin pigmentation abnormalities, nail dystrophy, and oral leukoplakia. This is the first reported case of a patient diagnosed with both CP and DC caused by compound heterozygous CTC1 gene mutations. Moreover, one of the variant mutations found in this patient has never been published before.
Asunto(s)
Ataxia/patología , Neoplasias Encefálicas/patología , Calcinosis/patología , Quistes del Sistema Nervioso Central/patología , Disqueratosis Congénita/patología , Leucoencefalopatías/patología , Espasticidad Muscular/patología , Mutación , Enfermedades de la Retina/patología , Convulsiones/patología , Proteínas de Unión a Telómeros/genética , Ataxia/complicaciones , Ataxia/genética , Neoplasias Encefálicas/complicaciones , Neoplasias Encefálicas/genética , Calcinosis/complicaciones , Calcinosis/genética , Quistes del Sistema Nervioso Central/complicaciones , Quistes del Sistema Nervioso Central/genética , Disqueratosis Congénita/complicaciones , Disqueratosis Congénita/genética , Femenino , Humanos , Lactante , Leucoencefalopatías/complicaciones , Leucoencefalopatías/genética , Espasticidad Muscular/complicaciones , Espasticidad Muscular/genética , Pronóstico , Enfermedades de la Retina/complicaciones , Enfermedades de la Retina/genética , Convulsiones/complicaciones , Convulsiones/genéticaRESUMEN
Waardenburg syndrome (WS) type IV is characterized by pigmentary abnormalities, deafness and Hirschsprung's disease. This syndrome can be triggered by dysregulation of the SOX10 gene, which belongs to the SOX (SRY-related high-mobility group-box) family of genes. We discuss the first known case of a SOX10 frameshift mutation variant defined as c.895delC causing WS type IV without Hirschsprung's disease. This female patient of unrelated Kuwaiti parents, who tested negative for cystic fibrosis and Hirschsprung's disease, was born with meconium ileus and malrotation and had multiple surgical complications likely due to chronic intestinal pseudo-obstruction. These complications included small intestinal necrosis requiring resection, development of a spontaneous fistula between the duodenum and jejunum after being left in discontinuity, and short gut syndrome. This case and previously reported cases demonstrate that SOX10 gene sequencing is a consideration in WS patients without aganglionosis but with intestinal dysfunction.