Subcostal schwannoma in pregnancy

Autor: Renata Margarida Etchebehere, Júverson Alves Terra Júnior, Sílvia Azevedo Terra, Aldo Benjamim Rodrigues Barbosa, Guilherme Azevedo Terra, Edmilson Rodrigo Daneze
Jazyk: angličtina
Rok vydání: 2012
Předmět:
Zdroj: Arquivos de Neuro-Psiquiatria, Vol 70, Iss 11, Pp 901-902 (2012)
ISSN: 1678-4227
Popis: • Episodes of dysautonomic crises, characterized by nau-sea, vomiting and symptoms of sympathetic storm (irri-tability, tachycardia, hypertension, facial flushing, bron-chorrhea and diminished oral coordination leading to swallowing and speech dysfunction);• Additional autonomic symptoms include orthostatic hy-potension, excessive salivation, gastrointestinal motility dysfunction, bladder dysfunction, decreased or absent tearing, pupil dilation, hypohidrosis, episodic hyperhidro-sis and blotchy skin;• Glomerulo sclerosis and chronic kidney disease unrelated to autonomic dysfunction;• Neuropathic symptoms: loss of reflexes,hypotonia, de-creased perception of pain and temperature;• Additional clinical features: short stature, kyphoscoliosis, smooth tongue (no fungiform papillae), vomiting, recur-rent aspiration, multiple skin scars, dysarthria, mental de -ficiencies, and emotional lability.Linkage studies map to a candidate region on chromo-some 9q31. Genetic evaluation is considered sensitive and specific for the diagnosis of HSAN3. Furthermore, it’s the only specific diagnostic test currently available.No particular treatment for familial dysautonomia has yet been described. Supportive care and symptomat-ic therapies are the main stay of management. The prog-nosis is poor.
Databáze: OpenAIRE