Septo-optic dysplasia with late-onset diagnosis: An uncommon presentation of a rare disease

2020 ◽  
Author(s):  
Vitória Duarte ◽  
Catarina Ivo ◽  
David Veríssimo ◽  
Sara Franco ◽  
Filipa Bastos ◽  
...  
Keyword(s):  
Rare Disease ◽  
Late Onset ◽  
Uncommon Presentation

scholarly journals An Uncommon Presentation of Myasthenia Gravis with Thymoma - A Case Report and Review of Literature

1970 ◽  
Vol 13 (1) ◽  
pp. 109-114
Author(s):  
MA Hannan ◽  
Mohammad Sayeed Hassan ◽  
Ayesha Begum ◽  
AKM Nurul Kabir
Keyword(s):  
Case Report ◽  
Neuromuscular Junction ◽  
Myasthenia Gravis ◽  
Diurnal Variation ◽  
Rare Disease ◽  
Liquid Food ◽  
Review Of Literature ◽  
Upper Arm ◽  
Uncommon Presentation ◽  
Incorrect Diagnosis

Myasthenia Gravis (MG) is a rare disease of neuromuscular junction which typically presents with fatigable weakness of cranial and limb muscles. But patient may present with vague symptoms which may mislead physicians to an incorrect diagnosis. We are reporting a 45 year old cobbler presented with the complaints of lack of energy, aching pain in shoulder, back, upper arm and difficulty in swallowing of both solid and liquid food without any diurnal variation for two and half years. He was ultimately diagnosed as a case of MG and thymectomy revealed thymoma. DOI: http://dx.doi.org/10.3329/jom.v13i1.10087 JOM 2012; 13(1): 109-114

scholarly journals Uhl's disease: An uncommon presentation of a rare disease

2018 ◽  
Vol 37 (12) ◽  
pp. 1007.e1-1007.e5
Author(s):  
Sílvia Aguiar Rosa ◽  
Ana Figueiredo Agapito ◽  
Marta António ◽  
Lídia de Sousa ◽  
José Alberto Oliveira ◽  
...  
Keyword(s):  
Rare Disease ◽  
Uncommon Presentation

scholarly journals Extranasopharyngeal angiofibroma of the nasal septum - uncommon presentation of a rare disease

2013 ◽  
Vol 79 (5) ◽  
pp. 646 ◽  
Author(s):  
Felipe Gustavo Correia ◽  
Juliana Caminha Simões ◽  
José Arruda Mendes-Neto ◽  
Maria Teresa de Seixas-Alves ◽  
Luis Carlos Gregório ◽  
...  
Keyword(s):  
Rare Disease ◽  
Nasal Septum ◽  
Uncommon Presentation ◽  
Extranasopharyngeal Angiofibroma

scholarly journals An uncommon presentation of a rare disease in the gastrointestinal tract

2014 ◽  
Vol 21 (5) ◽  
pp. 212-214
Author(s):  
Joana Moleiro ◽  
Paulo Bernardo ◽  
Sandra Faias ◽  
António Dias Pereira
Keyword(s):  
Gastrointestinal Tract ◽  
Rare Disease ◽  
Uncommon Presentation

scholarly journals Leprosy late-onset neuropathy: an uncommon presentation of leprosy

2012 ◽  
Vol 70 (6) ◽  
pp. 404-406 ◽  
Author(s):  
Osvaldo J.M. Nascimento ◽  
Marcos R. G. de Freitas ◽  
Tania Escada ◽  
Wilson Marques Junior ◽  
Fernando Cardoso ◽  
...  
Keyword(s):  
Late Onset ◽  
Past History ◽  
Axonal Neuropathy ◽  
Nerve Biopsy ◽  
Time Interval ◽  
Painful Neuropathy ◽  
Uncommon Presentation ◽  
Electrophysiological Studies ◽  
Previously Treated Patients ◽  
The Mean

Clinical and pathological findings in leprosy are determined by the natural host immune response to Mycobacterium leprae. We previously described cases of painful neuropathy (PN) with no concurrent cause apart from a past history of leprosy successfully treated. Four leprosy previously treated patients who developed a PN years after multidrug therapy (MDT) are reported. The mean patient age was 52.75 years (47-64). The mean time interval of the recent neuropathy from the previous MDT was 19 years (12-26). A painful multiplex neuritis or polyneuropathy were observed respectively in two cases. Electrophysiological studies disclosed a sensory axonal neuropathy in two cases. Microvasculitis with no bacilli was seen in nerve biopsy. Neuropathic symptoms were improved with prednisone. We consider these cases as being a leprosy late-onset neuropathy (LLON) form of presentation. A delayed immune reaction could explain the late appearance of LLON.

Sign in / Sign up

Export Citation Format

Share Document