Fibrous hamartoma of infancy with hypertrichosis: the diagnostic challenge of a rare late‐onset case

Author(s):  
Madhusmita Sethy ◽  
Biswanath Behera ◽  
Aparna Palit ◽  
Ashish Kumar Nayak ◽  
Siddhartha Dash ◽  
...  
2017 ◽  
Vol 27 ◽  
pp. S107-S108
Author(s):  
C. von Landenberg ◽  
K. Kappes-Horn ◽  
M. Stepien-Mering ◽  
J. Reimann

2010 ◽  
Vol 17 (2) ◽  
pp. 245-249 ◽  
Author(s):  
T Schultheiss ◽  
H Reichmann ◽  
T Ziemssen

Multiple sclerosis mainly affects young adolescents, making late-onset multiple sclerosis a rarity and diagnostic challenge, particularly for cases after age 80 years. We present an 82-year-old patient with multiple sclerosis with very late onset. As well as spastic paraplegia, additional Parkinsonism secondary to demyelination in the basal ganglia was observed in this case. In most publications, spinal cord lesions were more common in late-onset multiple sclerosis which, in contrast, could not be found in our case. Despite different treatment strategies, rapid clinical deterioration and death after about 2 years of disease course occurred. Further discrimination in late-onset multiple sclerosis (50–70 years) and multiple sclerosis with very late onset (above 70 years) might be considered. Future trials to elucidate potential benefit of immunosuppressive (and neuroprotective) therapies in these age groups are mandatory.


2018 ◽  
Vol 1 (2) ◽  
pp. 84-89
Author(s):  
Barrett-Campbell Odeth ◽  
◽  
James-Goulbourne Tracian ◽  
Shapira Iuliana ◽  
◽  
...  

Systemic Lupus Erythematosus may be missed in the elderly population as the clinical features may resemble more common conditions. Treatment remains a challenge in this group given the co-existing chronic illnesses and drug-related toxicities. Herein, we report a case of a 72-year-old Afro-Caribbean woman diagnosed with systemic lupus erythematosus after having pulmonary and renal manifestations.


2013 ◽  
Vol 333 ◽  
pp. e413
Author(s):  
B. Miguel ◽  
A. Hernández ◽  
C. Valencia ◽  
A. López ◽  
N. Giraldo ◽  
...  

2014 ◽  
Vol 27 (4) ◽  
pp. 525 ◽  
Author(s):  
Luís Brito-Avô ◽  
José Delgado Alves ◽  
João Matos Costa ◽  
Ana Valverde ◽  
Lélita Santos ◽  
...  

<strong>Introduction:</strong> Pompe disease is a progressive and debilitating autossomal recessive myopathy due to mutations in lysossomal acid-α-glucosidase. Its late-onset form has a heterogeneous presentation mimicking other neuromuscular diseases, leading to diagnostic challenge.<br /><strong>Objective:</strong> To develop consensus based recommendations for the diagnosis of late-onset Pompe Disease.<br /><strong>Material and Methods:</strong> Bibliographic review and analysis of an opinion questionnaire applied to a group of specialists with expertise in the diagnosis of several myopathies and lysossomal storage disorders. Discussed in consensus meeting.<br /><strong>Recommendations:</strong> Patients with a progressive limb-girdle weakness, fatigue, cramps and muscle pain should be evaluated with CK levels, electromyography, dynamic spirometry and muscle biopsy in inconclusive cases. Suspected cases and those in which muscle biopsy could not allow other diagnosis should be screened for lysossomal acid-α-glucosidase deficiency with DBS (dried blood spot). The diagnosis should be confirmed by determination of lysossomal acid-α-glucosidase activity in a second sample and lysossomal acid-α-glucosidase gene sequencing.<br /><strong>Keywords:</strong> Age of Onset; Consensus; Glycogen Storage Disease Type II.


2012 ◽  
Vol 32 (3) ◽  
pp. 322-323
Author(s):  
Pasquale Niscola ◽  
Laura Scaramucci ◽  
Marco Giovannini ◽  
Andrea Tendas ◽  
Luca Cupelli ◽  
...  

2021 ◽  
Vol 30 (3) ◽  
pp. 121-124
Author(s):  
Alexandra Constantinescu ◽  
◽  
Claudia Cobilinschi ◽  
Elena Gradinaru ◽  
Ioana Saulescu ◽  
...  

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease, characterized by multiorgan involvement, most commonly targeting the skin, joints and kidneys. Late-onset disease occurs in patients over the age of 50 and represents a diagnostic challenge, as it is less frequently encountered and it may exhibit a more unusual clinical and paraclinical picture. The aim of this paper is to highlight two cases of SLE diagnosed in female patients of considerably advanced ages, 81 and 72 years respectively, in order to enhance physician awareness with regard to this distinct disease subtype.


2017 ◽  
Vol 78 (9) ◽  
pp. e1197-e1203 ◽  
Author(s):  
Everard G. B. Vijverberg ◽  
Flora Gossink ◽  
Welmoed Krudop ◽  
Sietske Sikkes ◽  
Cora Kerssens ◽  
...  

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