Abstract #255: Kenny-Caffey Syndrome: A Rare Presentation of a Rare Disease

2006 ◽  
Vol 12 ◽  
pp. 93-94
Author(s):  
Khurshid Ahmad Khan ◽  
Stephen A. Brietzke
Keyword(s):  
Rare Disease ◽  
Rare Presentation

scholarly journals Asymmetric optic disc edema in a young patient with POEMS: A rare presentation of a rare disease

2021 ◽  
Vol 22 ◽  
pp. 101064
Author(s):  
Hana Mahallati ◽  
James Kirkland Roberts ◽  
Amer Assal ◽  
Divaya Bhutani ◽  
David C. Park ◽  
...  
Keyword(s):  
Rare Disease ◽  
Young Patient ◽  
Optic Disc ◽  
Optic Disc Edema ◽  
Rare Presentation ◽  
Disc Edema

FIBROSING MEDIASTINITIS: A RARE PRESENTATION OF A RARE DISEASE

CHEST Journal ◽  
2018 ◽  
Vol 154 (4) ◽  
pp. 479A-480A
Author(s):  
RASTKO RAKOCEVIC ◽  
LUKA PETROVIC ◽  
MONALI PATEL ◽  
BARBARA DANEK ◽  
CONSTANTINOS LOVOULOS ◽  
...  
Keyword(s):  
Rare Disease ◽  
Rare Presentation ◽  
Fibrosing Mediastinitis

scholarly journals Xanthogranulomatous prostatitis: Rare presentation of rare disease

2012 ◽  
Vol 28 (2) ◽  
pp. 204 ◽  
Author(s):  
RohanS Valsangkar ◽  
DurgaD Gaur ◽  
DayalP Singh
Keyword(s):  
Rare Disease ◽  
Rare Presentation

scholarly journals Superficial siderosis presenting as chronic migraine: Rare presentation of a rare disease

2017 ◽  
Vol 20 (1) ◽  
pp. 73 ◽  
Author(s):  
Debashish Chowdhury ◽  
AmitShankar Singh ◽  
GeetaAnjum Khwaja
Keyword(s):  
Chronic Migraine ◽  
Rare Disease ◽  
Superficial Siderosis ◽  
Rare Presentation

scholarly journals Infratentorial hemorrhagic cerebral proliferative angiopathy: A rare presentation of a rare disease

2015 ◽  
Vol 10 (3) ◽  
pp. 240 ◽  
Author(s):  
Sunil Kumar ◽  
Mukesh Sharma ◽  
Trilochan Srivastava ◽  
VirendraDeo Sinha
Keyword(s):  
Rare Disease ◽  
Rare Presentation

scholarly journals Hyperparathyroidism Jaw Tumor Syndrome Presenting as Recurrent Femur Fractures in a Young Woman; a Rare Presentation of a Rare Disease

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Piyumi S. A. Wijewickrama ◽  
Noel P. Somasundaram
Keyword(s):  
Primary Hyperparathyroidism ◽  
Parathyroid Adenoma ◽  
Rare Disease ◽  
Young Patients ◽  
Clinical Manifestations ◽  
Rare Presentation ◽  
Femur Fractures ◽  
High Calcium ◽  
Risk Of Malignancy ◽  
Exon 1

Background. Primary hyperparathyroidism usually occurs secondary to parathyroid adenoma, multiglandular hyperplasia, or parathyroid carcinoma. The patients usually present with incidentally discovered high calcium level and systemic or skeletal manifestations. In young patients with primary hyperparathyroidism, familial syndromes including multiple endocrine neoplasia types 1, 2, and 4 and hyperparathyroidism jaw tumor syndrome should be considered. Case Description. We present a case of a 22-year-old Sri Lankan woman who presented with femur fractures in a background of childhood nephroblastoma and maxillary fibro-osseous tumor. The patient had biochemical parameters suggestive of primary hyperparathyroidism with a parathyroid mass. The histology following excision of the mass revealed a parathyroid adenoma. Based on the associated clinical manifestations, hyperparathyroidism jaw tumor syndrome was suspected, and genetic studies reported a positive CDC73 mutation with a whole-gene deletion of exon 1–17. Conclusion. Hyperparathyroidism jaw tumor syndrome is an important diagnosis to consider in a young patient presenting with classic clinical features due to the risk of malignancy, familial involvement, and need to monitor for progressive systemic manifestations. As this is a rare disease, it can often be missed due to low degree of suspicion and the ability of the jaw tumor to mimic a metastatic deposit.

scholarly journals Alien hand and leg as the presenting feature of probable sporadic Creutzfeldt-Jakob disease: A rare presentation of a rare disease

2014 ◽  
Vol 0 (0) ◽  
pp. 0
Author(s):  
Kunal Nath ◽  
Dinesh Khandelwal ◽  
Deepak Jain ◽  
Mihir Acharya ◽  
BanshiLal Kumawat ◽  
...  
Keyword(s):  
Rare Disease ◽  
Rare Presentation ◽  
Alien Hand ◽  
Jakob Disease

scholarly journals Heavy and Light chain amyloidosois presenting as complete heart block: A rare presentation of a rare disease

2015 ◽  
Vol 25 (2) ◽  
pp. 106 ◽  
Author(s):  
PS Priyamvada ◽  
BH Srinivas ◽  
S Parameswaran ◽  
S Morkhandikar
Keyword(s):  
Rare Disease ◽  
Light Chain ◽  
Heart Block ◽  
Complete Heart Block ◽  
Rare Presentation

scholarly journals A Rare Presentation of a Rare Disease: Pulmonary Lymphomatoid Granulomatosis

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Ghulam Rehman Mohyuddin ◽  
Fatima Sultan ◽  
Ghulam Khaleeq
Keyword(s):  
Rare Disease ◽  
Anterior Mediastinum ◽  
Lymphoproliferative Disease ◽  
Lymphomatoid Granulomatosis ◽  
Radiographic Feature ◽  
Lobe Bronchus ◽  
Rare Presentation ◽  
History Of ◽  
Pulmonary Lymphomatoid Granulomatosis ◽  
Grade 3

A 70-year-old female presented with a 4-week history of dry cough and wheezing. Chest radiograph showed a 10.5 cm mass-like density in the anterior mediastinum which had not been previously visualized. Computed tomography scan (CT) of the chest showed a right hilar mass encasing and narrowing right upper lobe bronchus and right mainstem bronchus and secondary atelectatic changes. Biopsy was consistent with a diagnosis of lymphomatoid granulomatosis Grade 3. She responded well clinically and radiologically to therapy. Lymphomatoid granulomatosis is a rare EBV-associated disorder which is considered a lymphoproliferative disease. The most common radiographic feature is multiple lung nodules. An isolated hilar mass is an exceptionally rare presentation of this rare disease.

scholarly journals A rare presentation of a rare disease

2003 ◽  
Vol 56 (1) ◽  
pp. 78-78 ◽  
Author(s):  
Y Steppeler
Keyword(s):  
Rare Disease ◽  
Rare Presentation
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