Triple A syndrome presenting with myopathy: an Egyptian patient
Egyptian Journal of Medical Human Genetics [The]. 2009; 10 (1): 105-109
em Inglês
| IMEMR
| ID: emr-97432
ABSTRACT
Triple A syndrome [Allgrove syndrome] is a rare, autosomal recessive disorder characterized by Adrenocorticotropic hormone resistant adrenal insufficiency, Alacrmia, Achalasia of the oesophageal cardia, progressive neurological degeneration and occasionally autonomic instability [making it 4A syndrome]. Reported neurological abnormalities included developmental delay, ataxia and polyneuropathy with sensory, motor and autonomic components, long-tract degeneration, parkinsonism and mild dementia. In this paper we report a 13 year old boy with Allgrove syndrome presenting with muscular weakness that was confirmed by EMG studies. To our knowledge, muscle disease in Allogrove syndrome was not reported before
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Doenças Musculares
/
Manifestações Neurológicas
Tipo de estudo:
Relato de Casos
Limite:
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Egypt. J. Med. Hum. Genet.
Ano de publicação:
2009
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