scholarly journals Treatable Hereditary Manganese Transport Disorder: Novel SLC30A10 Mutation and its Characteristic Neuroimaging Appearance in Two Siblings

2020 ◽  
Author(s):  
Senthilvelan Santhakumar ◽  
Jospaul Lukas ◽  
Gopikrishnan Unnikrishnan ◽  
Bejoy Thomas ◽  
Chandrasekharan Kesavadas
Keyword(s):  
Differential Diagnosis ◽  
Liver Cirrhosis ◽  
Genetic Mutation ◽  
Imaging Findings ◽  
Typical Appearance ◽  
Manganese Transport

AbstractHypermanganesemia with dystonia and polycythemia along with liver cirrhosis is a rare syndromic complex that is associated with a characteristic genetic mutation and a typical appearance in the T1-weighted noncontrast image. We report the neuroimaging findings of two siblings affected by this syndrome. There are few reported cases in literature with similar findings. Diagnosing this problem will help in improving the outcomes as the condition is treatable. We have reviewed the clinical and imaging findings of this condition and the differential diagnosis related to it.

MR Imaging Findings of Pineal Germinoma: Focus on Differential Diagnosis from Other Germ Cell Tumors

1998 ◽  
Vol 39 (4) ◽  
pp. 639
Author(s):  
Hyun Jin Kim ◽  
Ho Kyu Lee ◽  
Jae Kyun Kim ◽  
Ji Hoon Shin ◽  
Choong Gon Choi ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Mr Imaging ◽  
Germ Cell ◽  
Germ Cell Tumors ◽  
Imaging Findings ◽  
Pineal Germinoma

scholarly journals Primary breast tuberculosis: imaging findings of a rare disease

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Ali H. Baykan ◽  
Hakan S. Sayiner ◽  
Ibrahim Inan ◽  
Elcin Aydin ◽  
Sukru M. Erturk
Keyword(s):  
Differential Diagnosis ◽  
Rare Disease ◽  
Extrapulmonary Tuberculosis ◽  
Reproductive Age ◽  
Malignant Diseases ◽  
Imaging Findings ◽  
Granulomatous Mastitis ◽  
Rare Form ◽  
Breast Tuberculosis

AbstractBreast tuberculosis is a rare form of extrapulmonary tuberculosis which tends to affect females of reproductive age, and is much rarer in males, postmenopausal women, and pre-pubescent girls. It is difficult to diagnose because it can mimic benign conditions such as a fibroadenoma, as well as malignant diseases like a carcinoma. It is also particularly difficult to distinguish breast tuberculosis from granulomatous mastitis, so other possible diagnoses should be ruled out first. The diagnosis of breast tuberculosis has three essential pillars: clinical examination, radiological evaluations, and histopathological sampling. Radiological evaluations are not only critical in diagnosis but are also important in the planning of the treatment and during the follow-up. This paper aims to review the imaging findings and the differential diagnosis of breast tuberculosis.

Mimics of acute appendicitis—Alternative diagnoses at sonography, CT, and MRI; specific imaging findings that can help in differential diagnosis

2018 ◽  
Vol 48 ◽  
pp. 90-105 ◽  
Author(s):  
Huseyin Toprak ◽  
Temel Fatih Yilmaz ◽  
Seyma Yildiz ◽  
Ihsan Turkmen ◽  
Serpil Kurtcan
Keyword(s):  
Differential Diagnosis ◽  
Acute Appendicitis ◽  
Imaging Findings ◽  
Ct And Mri

Hereditary angioedema: Differential diagnosis, diagnostic tests, and family screening

2020 ◽  
Vol 41 (6) ◽  
pp. S22-S25 ◽  
Author(s):  
Michael E. Manning
Keyword(s):  
Differential Diagnosis ◽  
Hereditary Angioedema ◽  
Diagnostic Tests ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Genetic Mutation ◽  
The Body ◽  
Laboratory Evaluation ◽  
Family Screening ◽  
Common Causes

Hereditary angioedema is a rare, autosomal dominant genetic disorder that leads to sporadic episodes of swelling, which can affect any part of the body. With a prevalence of 1 in 10,000 to 1 in 50,000, there are other, more common causes of angioedema. Differentiating between bradykinin-mediated and histamine-mediated causes of swelling remains a major challenge. It is critical to develop an appropriate differential diagnosis, work through the various conditions, and obtain the pertinent laboratory evaluation to rule in or out the proposed diagnosis. As an autosomal dominant genetic disorder, there is a 50% chance with each pregnancy of passing on the genetic mutation in the SERPING1 gene. This review addressed the differential diagnosis to consider, the appropriate laboratory evaluation, and the importance of family screening.

scholarly journals Craniocervical Arterial Dissection: Spectrum of Imaging Findings and Differential Diagnosis

Radiographics ◽  
2008 ◽  
Vol 28 (6) ◽  
pp. 1711-1728 ◽  
Author(s):  
Mathieu H. Rodallec ◽  
Véronique Marteau ◽  
Sophie Gerber ◽  
Loïc Desmottes ◽  
Marc Zins
Keyword(s):  
Differential Diagnosis ◽  
Arterial Dissection ◽  
Imaging Findings

scholarly journals Neuromyelitis Optica Spectrum Disorders: Spectrum of MR Imaging Findings and Their Differential Diagnosis—Erratum

Radiographics ◽  
2018 ◽  
Vol 38 (2) ◽  
pp. 662-662 ◽  
Author(s):  
Bruna Garbugio Dutra ◽  
Antônio José da Rocha ◽  
Renato Hoffmann Nunes ◽  
Antônio Carlos Martins Maia Júnior
Keyword(s):  
Differential Diagnosis ◽  
Mr Imaging ◽  
Neuromyelitis Optica ◽  
Neuromyelitis Optica Spectrum Disorders ◽  
Imaging Findings ◽  
Spectrum Disorders
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