Sindrome de Riley Day, manifestaciones bucales: revisión de la literatura / Riley Day syndrome, oral manifestations: revision of literature

Riley Day es una rara enfermedad o transtorno hereditario que afecta el desarrollo y funcionamiento de los nervios. Ocasiona Insensibilidad al dolor, no tiene cura ni tratamiento paliativo. Se transmite de padres a hijos, la persona debe heredar una copia del gen defectuoso de cada uno de los padres para desarrollar la afecci6n. El odontopediatra debe de estar capacitado para reconocer esta enfermedad, siendo un transtorno hereditario las primeras manifestaciones clínicas y orales se van a dar des de la infancia y van a ir aumentando con la edad; por eso el pro- pósito del presente reporte es describir el caso de un niño de 2 años 4 meses con Riley day, sus manifestaciones clínicas, datos epidemio16gicos y sugerencias de manejo odontologico de los pacientes con esta enfermedad...

Riley Day is a rare hereditary disease or disorder that affects the development and functioning of nerves. It causes insensitivity to pain, has no cure or treatment paliativo. It is transmitted from parent to child, the person must inherit a defective copy of the gene from each parent to develop afeccion. The dentist should be able to recognize this disease, an inherited disorder being the first clinical and oral manifestations are to be given since childhood and will gradually increase with age; therefore the purpose of this report is to describe the case of a 2 years 4 months Riley Day, its clinical manifestations, oral manifestations, epidemiological data and suggestions for dental management of patients with this disease....

Complicações osteoarticulares da analgesia congênita / Osteoarticular complications of congenital analgesia

Os autores apresentam dois irmãos com diagnóstico de analgesia congênita, com suas características clínicas e evolução. Essa doença é rara, apresenta alta morbidade e gera complicações osteoarticulares de difícil solução. O objetivo dos autores foi ressaltar a importância do diagnóstico tanto para o tratamento de suas afecções secundárias, quanto para seu aspecto jurídico.

The authors present two brothers with congenital pain insensitivity, with their clinical characteristics and evolution. This disease is rare, has high morbidity and originates complex osteoarticular complications. The aim of the authors was to emphasize the value of the diagnosis for a better treatment and to avoid legal problems to the parents.

Episodic somnolence in an infant with Riley-Day syndrome.

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.

Familial dysautonomia (Riley-Day syndrome).

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.

Familial dysautonomia: (Riley-Day syndrome)

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

Diagnóstico de las enfermedades del tórax / Diagnosis of diseses of the chest

Enfermedades embólicas y trombóticas de los pulmones. Hipertensión y edema de pulmón. Enfermedades de las vías áereas. Enfermedades pleuropulmonares causadas por la inhalación de polvo inorgánico. Enfermedades pulmonares causadas por aspiración de cuerpos extraños

Diagnóstico de las enfermedades del tórax / Diagnosis of diseses of the chest

Enfermedades embólicas y trombóticas de los pulmones. Hipertensión y edema de pulmón. Enfermedades de las vías áereas. Enfermedades pleuropulmonares causadas por la inhalación de polvo inorgánico. Enfermedades pulmonares causadas por aspiración de cuerpos extraños

Congenital autonomic dysfunction with universal pain loss.

Three patients who appear to have a previously undescribed congenital neuropathy are described. None is of Ashkenazi Jewish extraction, but each seems to fulfill the clinical diagnostic criteria for familial dysautonomia. All lack overflow tears, fungiform papillae, and deep-tendon reflexes; intradermal administration of histamine did not produce an axon flare. Intraocular instillation of dilute mecholyl produced miosis in the one patient tested. In contrast to patients with familial dysautonomia, the three patients had universal loss of pain sensation, profound hypotonia, and unusual facies. Pathologic examination of the sural nerve in one patient was not consistent with the usual findings in familial dysautonomia. These patients are believed to have a previously undescribed congenital neuropathy.