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....

Neuropatía autonómica sensorial hereditaria / Hereditary sensory and autonomic neuropathy

La insensibilidad congénita al dolor es una patología infantil poco frecuente. Existen cinco diferentes tipos de neuropatía sensorial y autonómica descritas hasta la fecha, cada una de ellas con hallazgos clínicos diversos. A continuación se reporta el caso de un niño de 10 años, con el diagnóstico de neuropatía autonómica sensorial hereditaria tipo IV, condición que presenta una herencia autosómica recesiva. Esta patología se caracteriza por la pérdida de la sensibilidad al dolor y temperatura, anhidrosis, automutilación y retardo mental. La anhidrosis lleva a trastornos de la termorregulación, que pueden causar episodios de fiebre y la pérdida de sensibilidad, se asocia con fracturas y traumas articulares recurrentes...

Dexmedetomidine and the perioperative care in Riley-Day syndrome: a case report and literature review

Familial dysautonomia [FD], also known as Riley-Day syndrome, is a disorder of the autonomic nervous system that results in loss of demyelinated nerve fibers of sensory, sympathetic and parasympathetic neurons. Individuals with FD have variable clinical symptoms that may include insensitivity to pain, inability to produce tears, poor oral intake during infancy, repeated vomiting, failure to thrive, wide fluctuations in body temperature, and episodic hypertension and hypotension. These paroxysmal crises are due to dysfunction of the autonomic system with an elevation of both norepinephrine and dopamine levels. Clonidine, an alpha 2-adrenergic agonist, has been previously demonstrated to be an effective pharmacological agent in the treatment of dysautonomic crises related to FD. Dexmedetomidine is an alpha 2-adrenergic agonist with an alpha 2:alpha 1 specificity that is almost 8 times that of clonidine. The authors present the perioperative use of dexmedetomidine in a patient with FD. Previous reports of the use of dexmedetomidine in patients with FD are reviewed and the beneficial physiologic effects discussed

Non-union of fractures in Riley Day Syndrome

Riley Day Syndrome, also known as familial dysautonomia, is a rare reported entity characterised by disturbance of pain and temperature perceptions, inability to produce tears, labile blood pressure and poor growth due to disorder of the autonomic and sensory nervous system. It is an autosomal recessive condition with the genetic locus mapped to chromosome 9q31-q33. Traumatic fractures are common and due to lack of pain, may go unrecognised for prolonged periods of time, resulting in nonunion or pseudoarthrosis. Scoliosis is seen in up to 90% of the patients. Complications of are common in these patients and range from infection to wound breakdown to failure of fixation. We report a case (nineyear-old girl) of Riley Day Syndrome with general absence of pain and damage to the extremities to highlight this rare syndrome

Trends and clinical application of induced pluripotent stem cells

The generation of induced pluripotent stem cells (iPSCs) from somatic cells demonstrated that adult mammalian cells can be reprogrammed into a pluripotent state by introducing defined transcription factors. iPSCs show almost identical properties in self-renewal and pluripotency, and can circumvent ethical concerns because they do not use embryonic materials. Therefore, iPSCs from a patient's somatic cells have great potential in studying drug development and regenerative medicine. Several human disease models have already been established using patient-specific iPSCs from Parkinson's disease and familial dysautonomia. Moreover, the correction of genetic defects by homologous recombination has already been accomplished with Fanconi anemia patient-specific iPSCs. However, the generation of patient-specific iPSCs for clinical application requires alternative strategies, because genome-integrating viral vectors may raise tumorigenic risk after transplantation. Moreover, the use of iPSCs for eventual clinical application is limited by the low efficiency of current methods for reprogramming. Studies on the mechanism underlying the reprogramming and on establishment of non-integration methods contribute evidence toward resolving the safety concerns associated with iPSCs. Small molecules involved in the epigenetic modification and signaling pathway not only improve reprogramming efficiencies, but also bypass the addition of certain reprogramming factors. However, reprogramming somatic cells purely by small molecule treatment still remains a challenge. Here, we review recent progress made by the use of transcription factors and small molecules that can either replace reprogramming factors or enhance reprogramming efficiency. We also discuss the progress that has been made in the rapidly moving iPSC field, with an emphasis on understanding the mechanisms of cellular reprogramming and its potential application to cell therapy.

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.

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

Ileo adinámico en el síndrome de Guillain-Barré / Adynamic ileons in the Guillain-Barre syndrome

Se presenta un caso de Síndrome de Guillain-Barré con disfunción autonómica severa caracterizada por crisis de hipertensión, taquicardia, inestabilidad hemodinámica e íleo adinámico que simulo una obstrucción intestinal baja y llevó, por tanto, a indicar un tratamiento quirúrgico. El diagnóstico de íleo adinámico por disfunción autonómica fue hecho retrospectivamente y el uso terapéutico de pirodostigmina dio excelentes resultados. Nosotros concluimos que la falla en el reconocimiento de importantes hallazgos clínicos y de la posible etiología médica de esta complicación del SGB, puede conducir a una intervención quirúrgica riesgosa e innecesaria

Síndrome maligna induzida por neuroléptico / Malignant syndrome induced by neuroleptics

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

A Case of Familial Dysautonomia

No abstract available.

A Dysautonomia Simulating Riley-Day Syndrome

Familial dysautonomia, first described by Riley and co-workers in 1949, is a congenital, heritable syndrome. It is transmitted by a recessive autosomal gene which is generally limited to persons of Jewish extraction; however, rare occurrences among non-Jewish Caucasians and in a black girl have been reported. An eight-year old Korean boy was admitted to Severance Hospital with bulbar conjunctival injection OU for 1 month and visual disturbance OS for 10 days. Examination revealed exfoliated epithelium in an area of about 3mm in diameter in the center of the left cornea, multiple punctate erosions and edema of the corneal epithelium. Yet, he experienced no discomfort, blepharospasm, nor photophobia. He had decreased corneal sensation, decreased lacrimation by Schirmer test and miosis was induced biJaterally by 0.25% pilocarpine (equivalent to 2.5% methacholine). The patient had decreased deep tendon reflexes and postural hypotension, and showed emotional lability, indifference to pain, and abnormal temperature control. He also had marked anorexia, swallowing difficulty, cyclic vomiting, abdominal pain, headache, intermittent vascular hypertension and one episode of convulsive seizure. He was positive to histamine intradermal injection test and had abnormal EEG. EMG was suggestive of some form of neuropathy. He was treated with toplca 0.5% chloramphenicol solution and 10% dextran solution alternatively q.2 hrs., terramycin ophthalmic ointment q.h.s. and bilateral patching; he also received 50,000 units of vitamin A for 10 days. He showed marked improvement of his ocular symptoms in 6 days. The above patient shows many of the essential features of the familial dysautonomia syndrome as outlined by Riley; however, he also lacks some of the most important features. Therefore, we feel that the patient has a case of some other type of autonomic dysfunction simulating Riley-Day svndrome.