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1.
Int J Immunopathol Pharmacol ; 25(2): 513-7, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22697084

RESUMEN

Guillain-Barré syndrome (GBS) is an inflammatory polyneuropathy characterized by acute onset, rapid progression, symmetric muscular weakness, pain, and paresthesias. The incidence of GBS in the pediatric age group is 0.8 cases per 100,000; 50%-70% of the cases are preceded by respiratory or gastrointestinal infectious episodes or vaccination. The etiopathogenesis of GBS has been hypothesized to involve a direct immune-mediated mechanism against the peripheral nerves. A series of 20 patients managed in the Department of Pediatrics of the University of Catania between 2003 and 2011 and evaluated according to epidemiologic, clinical, and therapeutic features is reported.


Asunto(s)
Síndrome de Guillain-Barré , Adolescente , Antirretrovirales/uso terapéutico , Autoanticuerpos/sangre , Autoanticuerpos/líquido cefalorraquídeo , Biomarcadores/líquido cefalorraquídeo , Niño , Preescolar , Evaluación de la Discapacidad , Quimioterapia Combinada , Femenino , Gangliósidos/inmunología , Síndrome de Guillain-Barré/diagnóstico , Síndrome de Guillain-Barré/tratamiento farmacológico , Síndrome de Guillain-Barré/epidemiología , Síndrome de Guillain-Barré/inmunología , Síndrome de Guillain-Barré/fisiopatología , Humanos , Inmunoglobulinas Intravenosas/uso terapéutico , Italia , Masculino , Examen Neurológico , Valor Predictivo de las Pruebas , Recurrencia , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Esteroides/uso terapéutico , Factores de Tiempo , Resultado del Tratamiento
2.
Minerva Pediatr ; 63(1): 73-78, 2011 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-21311432

RESUMEN

Subacute sclerosing panencephalitis (SSPE) is a progressive neurological disorder of childhood and early adolescence caused by persistent defective measles virus. Clinical manifestations appear many years after the acute measles infection. The incidence of SSPE has substantially declined after the introduction of an effective vaccine. We report a case of a child with SSPE that began with atonia, dysarthria, and intellectual deterioration without the presence of any particular EEG anomalies. We have reported this girl who was affected by this severe affliction in the hope that, because of the rarity of SSPE, it would not go undiagnosed.


Asunto(s)
Sarampión/complicaciones , Panencefalitis Esclerosante Subaguda/diagnóstico , Antivirales/uso terapéutico , Niño , Progresión de la Enfermedad , Quimioterapia Combinada , Disartria , Electroencefalografía , Femenino , Humanos , Inosina Pranobex/uso terapéutico , Interferón beta/uso terapéutico , Vacuna Antisarampión/efectos adversos , Pronóstico , Índice de Severidad de la Enfermedad , Panencefalitis Esclerosante Subaguda/inmunología , Panencefalitis Esclerosante Subaguda/terapia
4.
Neuropediatrics ; 38(3): 154-6, 2007 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-17985267

RESUMEN

Malignant infantile osteopetrosis (MIOP) is a rare autosomal recessive disorder of bone resorption characterized by early bone marrow failure, proneness to fractures, and visual deterioration, variably associated with impairments of other cranial nerves due to narrowing of skull base foramina. About 10% of patients with MIOP show severe neurological involvement, which contraindicates bone marrow transplantation. We report on a 12-month-old female with recessive OSMT1 mutations and neuroimaging findings suggesting a neurodegenerative storage disorder.


Asunto(s)
Trastornos Heredodegenerativos del Sistema Nervioso/genética , Imagen por Resonancia Magnética/métodos , Proteínas de la Membrana/genética , Mutación , Osteopetrosis/genética , Ubiquitina-Proteína Ligasas/genética , Ácido Aspártico/análogos & derivados , Ácido Aspártico/análisis , Colina/análisis , Creatina/análisis , Análisis Mutacional de ADN/métodos , Femenino , Trastornos Heredodegenerativos del Sistema Nervioso/diagnóstico , Humanos , Lactante , Espectroscopía de Resonancia Magnética/métodos , Osteopetrosis/diagnóstico
5.
Minerva Pediatr ; 58(1): 63-8, 2006 Feb.
Artículo en Italiano | MEDLINE | ID: mdl-16541008

RESUMEN

Moyamoya disease is a rare disorder characterised by a progressive occlusion or stenosis of the distal portions of bilateral internal carotid arteries with the development of a network of collateral vessels. Pediatric patients show transient ischemic attacks or strokes; diagnosis is made on the basis of clinical and radiographic findings. The case of a 2-year-old female, which after a Mycoplasma pneumoniae infection presented multiple cerebral strokes is reported. A diagnosis of moyamoya disease was made on the basis of neuroradiological findings; neurological complications due to Mycoplasma infection are reported and the relationship between disease and infection are discussed.


Asunto(s)
Enfermedad de Moyamoya/complicaciones , Neumonía por Mycoplasma/complicaciones , Accidente Cerebrovascular/etiología , Arteria Carótida Interna/patología , Preescolar , Femenino , Humanos , Enfermedad de Moyamoya/diagnóstico , Enfermedad de Moyamoya/terapia , Neumonía por Mycoplasma/diagnóstico , Neumonía por Mycoplasma/terapia , Accidente Cerebrovascular/diagnóstico , Accidente Cerebrovascular/microbiología , Accidente Cerebrovascular/terapia , Resultado del Tratamiento
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