RESUMEN
Symptoms of COVID-19, as reported during the SARS-CoV-2 pandemic in 2019-2020, are primarily respiratory and gastrointestinal, with sparse reports on neurological manifestations. We describe the case of a 17-year old female with Cornelia de Lange syndrome and well controlled epilepsy, who sustained significant cortical injury during a COVID-19 associated multi-inflammatory syndrome.
Asunto(s)
Encefalopatías/fisiopatología , COVID-19/fisiopatología , Síndrome de Cornelia de Lange/complicaciones , Epilepsia/fisiopatología , Convulsiones/fisiopatología , Síndrome de Respuesta Inflamatoria Sistémica/fisiopatología , Lesión Renal Aguda/etiología , Adolescente , Extubación Traqueal , Anticonvulsivantes/uso terapéutico , Trastornos de la Coagulación Sanguínea/etiología , Trastornos de Fallo de la Médula Ósea , Encefalopatías/diagnóstico por imagen , Encefalopatías/etiología , Encefalopatías/patología , Edema Encefálico/diagnóstico por imagen , Edema Encefálico/etiología , Proteína C-Reactiva/inmunología , COVID-19/complicaciones , COVID-19/inmunología , COVID-19/terapia , Progresión de la Enfermedad , Electroencefalografía , Epilepsia/complicaciones , Epilepsia/tratamiento farmacológico , Femenino , Ferritinas/metabolismo , Humanos , Virus de la Influenza B , Gripe Humana/complicaciones , Levetiracetam/uso terapéutico , Imagen por Resonancia Magnética , Midazolam/uso terapéutico , Necrosis , Fenobarbital/uso terapéutico , Infecciones por Pseudomonas/complicaciones , Respiración Artificial , Rabdomiólisis/complicaciones , Rabdomiólisis/etiología , SARS-CoV-2 , Convulsiones/tratamiento farmacológico , Convulsiones/etiología , Sepsis/etiología , Sepsis/fisiopatología , Sepsis/terapia , Síndrome de Respuesta Inflamatoria Sistémica/complicaciones , Síndrome de Respuesta Inflamatoria Sistémica/inmunología , Síndrome de Respuesta Inflamatoria Sistémica/terapia , Taquicardia Ventricular/etiología , Taquicardia Ventricular/fisiopatología , Taquicardia Ventricular/terapiaRESUMEN
Autosomal recessive LPIN1 mutations have been recently described as a novel cause of rhabdomyolysis in a few families. The purpose of the study was to evaluate the prevalence of LPIN1 mutations in patients exhibiting severe episodes of rhabdomyolysis in infancy. After exclusion of primary fatty acid oxidation disorders, LPIN1 coding sequence was determined in genomic DNA and cDNA. Among the 29 patients studied, 17 (59%) carried recessive nonsense or frameshift mutations, or a large scale intragenic deletion. In these 17 patients, episodes of rhabdomyolysis occurred at a mean age of 21 months. Secondary defect of mitochondrial fatty oxidation or respiratory chain was found in skeletal muscle of two patients. The intragenic deletion, c.2295-866_2410-30del, was identified in 8/17 patients (47%), all Caucasians, and occurred on the background of a common haplotype, suggesting a founder effect. This deleted human LPIN1 form was unable to complement Delta pah1 yeast for growth on glycerol, in contrast to normal LPIN1. Since more than 50% of our series harboured LPIN1 mutations, LPIN1 should be regarded as a major cause of severe myoglobinuria in early childhood. The high frequency of the intragenic LPIN1 deletion should provide a valuable criterion for fast diagnosis, prior to muscle biopsy.
