ABSTRACT
Familial dysautonomia is an autosomal recessive congenital neuropathy that occurs almost exclusively in the Ashkenazi Jewish population and has rarely been diagnosed in the neonatal period in unaffected families. This report describes a patient who, during the neonatal period, had episodes of marked decrease in the level of consciousness with durations of 4-15 hours. Other signs and symptoms included the absence of fungiform papillae of the tongue, areflexia, and failure to thrive. The diagnosis was confirmed by the demonstration of mutations in the IkappaB kinase complex-associated protein gene with the identification of IVS20 (+6T --> C) which is responsible for more than 99.5% of known Ashkenazi Jewish patients with familial dysautonomia. The prognosis of this disease and the possibility of genetic counseling are clearly related with an early definitive diagnosis, and this patient illustrates the importance of episodes of somnolence as a possible sign of familial dysautonomia.
Subject(s)
Disorders of Excessive Somnolence/diagnosis , Disorders of Excessive Somnolence/etiology , Dysautonomia, Familial/complications , Dysautonomia, Familial/diagnosis , Fever/diagnosis , Fever/etiology , Humans , Hyperhidrosis/diagnosis , Hyperhidrosis/etiology , Infant, Newborn , Male , Muscle Hypotonia/diagnosis , Muscle Hypotonia/etiologyABSTRACT
Familial dysautonomia, also known as Riley-Day syndrome, is a disorder of autonomic nervous system with an autosomal recessive mode of inheritance. Reduction and/or loss of unmyelinated and small myelinated fibers is found, as reduction of dopamine beta-hydroxylase in blood. The diagnosis is based on clinical features: diminished lacrimation, insensitivity to pain, poor temperature control, abolished deep tendon reflexes, postural hypotension, vomiting attacks, poor motor coordination, and mental retardation. The treatment is symptomatic and many children die during the first years of life, usually as a result of repeated aspiration pneumonia. We report the case of a 1 year-old child with familial dysautonomia.
Subject(s)
Dysautonomia, Familial/physiopathology , Dopamine beta-Hydroxylase/blood , Dysautonomia, Familial/complications , Dysautonomia, Familial/diagnosis , Humans , Infant , Male , Nerve Fibers, Myelinated/pathology , Pneumonia, Aspiration/etiologyABSTRACT
A disautonomia familial, também conhecida por síndrome de Riley-Day, é desordem do sistema nervoso autônomo como herança autossômica recissiva. Reduçäo e/ou perda de fibras pouco mielinizadas e näo mielinizadas é encontrada, bem como reduçäo da dopamina beta-hidroxilase no sangue. O diagnóstico é clínico: diminuiçäo do lacrimejamento, insensibilidade à dor, distúrbio do controle têrmico, reflexos profundos abolidos ou hipoativos, hipotensäo postural, vômitos, pobre coordenaçäo motora e retardo mental. O tratamento é sintomático e amaioria das crianças morre nos primeiros anos de vida, geralmente por pneumonias aspirativas de repetiçäo. Relatamos o caso de uma criança de 1 ano de idade com disautonomia familial
Subject(s)
Humans , Male , Infant , Dysautonomia, Familial/physiopathology , Dopamine beta-Hydroxylase/blood , Dysautonomia, Familial/complications , Dysautonomia, Familial/diagnosis , Nerve Fibers, Myelinated/pathology , Pneumonia, Aspiration/etiologyABSTRACT
A síndrome maligna (SM) é uma reaçäo idiossincrásica e potencialmente fatal ao uso de neurolépticos, caracterizada por febre, rigidez muscular, alteraçöes da consciência e disfunçöes autonômicas. No presente trabalho, apresentamos uma revisäo da literatura sobre a SM nos últimos oito anos, a luz da qual discutimos um possível novo caso que ilustra as dificuldades e a importância de um diagnóstico precoce, condiçäo fundamental para um tratamento efetivo e uma evoluçäo bem-sucedida da SM. Fazemos ainda sugestöes quanto a procedimentos necessários ao pronto diagnóstico, bem como ressaltamos aspectos importantes para futuros estudos