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Charcot marie tooth and esophageal disease

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https://www.readbyqxmd.com/read/20931227/two-siblings-with-triple-a-syndrome-and-novel-mutation-presenting-as-hereditary-polyneuropathy
#1
Miroslav Dumić, Nina Barišić, Nataša Rojnić-Putarek, Vesna Kušec, Andrija Stanimirović, Katrin Koehler, Angela Huebner
The clinical and molecular data on triple A syndrome in two siblings (girl 3.5 years and boy 5.5 years at presentation) with early onset of neurological dysfunction are described. Both patients showed delayed developmental milestones and neurological dysfunctions (motor and sensory demyelinating neuropathy, marked hyperreflexia, calves hypothrophy, pes cavus, gait disturbance) in early childhood, when erroneously diagnosed with hereditary polyneuropathy, most likely Charcot-Marie-Tooth disease. After a severe adrenal crisis in the younger sister at the age of 3 years, the older brother aged 5...
March 2011: European Journal of Pediatrics
https://www.readbyqxmd.com/read/16753848/a-complication-of-steroid-therapy-in-acute-leukaemia-a-case-report
#2
J Quint, W Mills, D Lewis, J D Cavenagh, S G Agrawal
Common complications associated with steroid therapy are well documented. We report a rare and fatal complication, in which oesophageal erosion secondary to the use of steroids was associated with pneumopericardium.
April 2006: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/9001170/gastrointestinal-involvement-in-neurologic-disorders-stiff-man-and-charcot-marie-tooth-syndromes
#3
I Soykan, R W McCallum
Many neurologic conditions can affect the striated muscle of the gastrointestinal tract, resulting in dysphagia. In this article, two patients with rare neurologic disorders are reported (Stiff-man syndrome and Charcot-Marie-Tooth syndrome). Both patients had pharyngeal dysphagia. In addition, there was evidence of smooth muscle involvement in other areas of the gastrointestinal tract, specifically abnormal esophageal motility and delayed gastric emptying. In the English literature, there are only two reports of Stiff-man syndrome and dysphagia, and there are no reports of Charcot-Marie-Tooth syndrome...
January 1997: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/5145973/-extraesophageal-nervous-pathogenesis-of-achalasic-megaesophagus-clinical-report-of-a-family-with-charcot-marie-tooth-disease
#4
P Nocentini, M Pace, G Cardona, W Piazzesi, M G Bucciolini, O Ronchi
No abstract text is available yet for this article.
November 1971: Rivista di Neurologia
https://www.readbyqxmd.com/read/5071543/-cytogenetic-research-on-members-of-a-family-with-charcot-marie-tooth-disease-with-an-achalasic-megaesophagus
#5
P Nocentini, W Piazzesi, M Pace, G Cardona, O Ronchi
No abstract text is available yet for this article.
March 1972: Rivista di Neurologia
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