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1.
Pediatr Neurol ; 136: 28-33, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-36084419

RESUMEN

INTRODUCTION: Anosmia and hypogeusia are frequent symptoms in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in adults, but their incidence in children is unknown. OBJECTIVE: Describe the incidence and associated characteristics of olfactory and gustatory dysfunction in children with SARS-CoV-2 infection. MATERIAL AND METHODS: Descriptive study carried out by telephone survey of patients aged between five and 18 years with SARS-CoV-2 infection confirmed between March and December, 2020. RESULTS: Two hundred eighty Spanish patients (female: 42.2%) with a mean age of 10.4 years (±3.54, range: 5 to 17) were analyzed, 22.5% with other diseases (mostly respiratory: 11.8%). The most frequent symptoms were fever (55.36%) and neurological symptoms (45.7%). Forty-four (15.7%) were hospitalized due to the infection, in intensive care unit (ICU): 7.1%. Forty-five patients (16.1%) had anosmia and/or hypogeusia: 32 both, eight with hypogeusia only, and five with exclusively anosmia. The mean symptom duration in days for anosmia was 36.4, and for hypogeusia it was 27.6. Either symptom was the initial manifestation in 15 patients. None had anosmia/hypogeusia with no other symptoms. Anosmia/hypogeusia was related to the presence of respiratory infection, gastroenteritis, chills, odynophagia, myalgia, asthenia, and anorexia, but not severity (hospitalization/ICU admission). Cohabitation with another infected individual was associated with a higher incidence of anosmia/hypogeusia (P = 0.041) and duration of anosmia (P = 0.006). The presence of anosmia/hypogeusia in cohabitants was associated with longer duration of anosmia (P < 0.001). CONCLUSIONS: The incidence of anosmia/hypogeusia in children with SARS-CoV-2 was lower than that reported in adults, although with a longer duration. Although no association was found between anosmia/hypogeusia and greater disease severity, recognition of these symptoms could help identify paucisymptomatic patients.


Asunto(s)
Ageusia , COVID-19 , Trastornos del Olfato , Adolescente , Adulto , Ageusia/epidemiología , Ageusia/etiología , Anosmia , COVID-19/complicaciones , Niño , Preescolar , Femenino , Humanos , Trastornos del Olfato/diagnóstico , Trastornos del Olfato/epidemiología , Trastornos del Olfato/etiología , SARS-CoV-2 , Olfato , Trastornos del Gusto/complicaciones , Trastornos del Gusto/etiología
2.
BMJ Case Rep ; 13(3)2020 Mar 08.
Artículo en Inglés | MEDLINE | ID: mdl-32152069

RESUMEN

​The advance in the human genetic field has permitted to identify small chromosome alterations and associate them to a specific phenotype. However, there are many mutations that have not yet been described in the literature. We describe the clinical case of a term newborn with appropriate weight to its gestational age, without perinatal background of interest that, at birth, presented: macrocephaly, hypertelorism, low-set ears, prominent forehead, micrognathia, camptodactyly, bilateral cryptorchidism, inspiratory stridor with the cry, multifocal systolic murmur, wide anterior fontanel and hypotonia of mixed characteristics and in whom a deletion of the 1q44 cytoband and a pathogenic duplication in the 9q32q34.3 cytoband were detected. We perform a review of the literature.


Asunto(s)
Anomalías Múltiples/genética , Duplicación Cromosómica , Fenotipo , Eliminación de Secuencia , Cromosomas Humanos Par 1 , Cromosomas Humanos Par 9 , Técnicas de Genotipaje , Humanos , Recién Nacido , Masculino
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