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1.
Neoreviews ; 25(2): e71-e77, 2024 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-38296786

RESUMEN

In contrast to adults, neonates and infants with coronavirus disease 2019 (COVID-19) infection have milder symptoms and are less likely to require hospitalization. However, some neonates with COVID-19 can present with significant symptoms. Recent evidence suggests that neurologic manifestations of neonatal COVID-19 infection may be higher than initially thought. In this comprehensive review of the current literature, we summarize the clinical, laboratory, and radiologic findings, as well as potential management strategies for COVID-19-related neurologic illness in neonates. Although the growing brain may be affected by neurologic disease associated with COVID-19 infection, the few published studies on the long-term outcomes after COVID-19 infection in neonates and infants provide conflicting results. Larger collaborative clinical studies are needed to determine whether COVID-19 infection in neonates has long-term neurodevelopmental outcomes.


Asunto(s)
COVID-19 , Enfermedades del Sistema Nervioso , Recién Nacido , Lactante , Adulto , Humanos , COVID-19/complicaciones , COVID-19/diagnóstico , SARS-CoV-2 , Enfermedades del Sistema Nervioso/diagnóstico , Enfermedades del Sistema Nervioso/etiología , Hospitalización
4.
BMJ Case Rep ; 13(12)2020 Dec 15.
Artículo en Inglés | MEDLINE | ID: mdl-33323420

RESUMEN

Hyperekplexia is an exaggerated startle to external stimuli associated with a generalised increase in tone seen in neonates with both sporadic and genetic predisposition. This is an uncommon neurological entity that is misdiagnosed as seizure. A 28-days-old infant was admitted to us with characteristic intermittent generalised tonic spasm being treated as a seizure disorder. The infant had characteristic stiffening episode, exaggerated startle and non-habituation on tapping the nose. Hyperekplexia was suspected and confirmed by genetic testing (mutation in the ß subunit of glycine was found). Initial improvement was seen with the use of clonazepam, which was not sustained. At the age of 4.5 years, the child is still having neurobehavioural issues like hyperactivity and sensory hyper-responsiveness. Usually, hyperekplexia is benign in nature. We report a case of hyperekplexia with non-sense mutation in the ß subunit of GlyR gene having abnormal neurodevelopmental findings at 4.5 years.


Asunto(s)
Hiperekplexia/diagnóstico , Hiperekplexia/genética , Mutación Missense/genética , Receptores de Glicina/genética , Anticonvulsivantes/uso terapéutico , Preescolar , Clonazepam/uso terapéutico , Diagnóstico Diferencial , Errores Diagnósticos , Humanos , Hiperekplexia/fisiopatología , Hipercinesia/genética , Hipercinesia/fisiopatología , Recién Nacido , Masculino , Reflejo Anormal/genética , Reflejo de Sobresalto/genética
5.
Indian J Pediatr ; 87(12): 1040-1046, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-32557136

RESUMEN

Infantile spasms, though long recognised, are still a cause of significant morbidity in children. The knowledge of their etiology and pathogenesis is still evolving. Even the management strategies vary among different centres. Hormonal treatments and vigabatrin have been recognised as effective but controversies prevail on the exact protocols that best balance the risk benefit ratio. Collaborative studies have begun to provide some clarity on some of the management issues but further large scale studies that further standardise protocols are a felt need. This article attempts to provide a clinically relevant summary of the current knowledge.


Asunto(s)
Espasmos Infantiles , Anticonvulsivantes/uso terapéutico , Humanos , Lactante , Medición de Riesgo , Espasmos Infantiles/diagnóstico , Espasmos Infantiles/tratamiento farmacológico , Espasmos Infantiles/etiología , Vigabatrin/uso terapéutico
6.
Case Rep Dent ; 2012: 262043, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-23320199

RESUMEN

Cleidocranial dysplasia is a rare autosomal disorder which manifests as partial or complete absence of clavicles, multiple supernumerary teeth, and delayed closure of fontanelle. Classical cases of cleidocranial dysplasia are easily diagnosed very early in the life. However, cases with partial manifestation of the syndrome and noncontributory family history are difficult to diagnose. Here, we report a case of 8.5-year-old girl child who presented with delayed tooth development (without any supernumerary teeth), anterior open fontanelle, and normal clavicles, thus resulting in a diagnostic dilemma.

7.
Indian Pediatr ; 48(2): 143-5, 2011 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-21378425

RESUMEN

Cyclical vomiting syndrome is a paroxysmal, condition characterized by recurrent severe episodes of vomiting lasting for hours to days, with variable intervals of normal health in between with no apparent cause of the vomiting. We hereby report a 10 yr old girl with cyclical vomiting syndrome with multiple, bisynchronous occipitally predominant, bilateral epileptiform discharges representing a diagnostic confusion.


Asunto(s)
Epilepsia/fisiopatología , Vómitos/fisiopatología , Niño , Enfermedad Crónica , Electroencefalografía , Epilepsia/diagnóstico , Epilepsia/tratamiento farmacológico , Femenino , Humanos , Síndrome , Vómitos/diagnóstico , Vómitos/tratamiento farmacológico
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