Ellis-Van Creveld Syndrome: Radiological Findings of a Case and Review of the Literature

AbstractOsteoid osteoma is a benign osteoblastic tumor, quite uncommon in the spine. We report a case of an osteoid osteoma involving the atlas in a 6-year-old boy, who presented with suboccipital pain and torticollis. Initial radiological findings were ambiguous as magnetic resonance imaging showed mainly edema of upper cervical soft tissues. The subsequent computed tomography depicted a lesion of left lamina of C1. As conservative treatment failed, the lesion was surgically resected and the patient became pain free. To our knowledge, this is the first case of osteoid osteoma involving the atlas associated with abnormal soft tissue reaction reported in literature.

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Gaucher Patient With Bilateral Total Femoral Lytic Lesion Mimicking Malignancy and Review of the Literature Case Report

10.21203/rs.3.rs-574390/v1 ◽

2021 ◽

Author(s):

Yavuz ŞAHBAT ◽

Ahmet Hamdi AKGÜLLE ◽

Onur BUĞDAYCI ◽

İpek ERBARUT ◽

Beyza KESKİN

Keyword(s):

Quality Of Life ◽

Gaucher Disease ◽

Pathological Fracture ◽

Lytic Lesion ◽

Review Of The Literature ◽

Radiological Findings ◽

Hematological Diseases ◽

Bone Infiltration

Abstract IntroductionBone involvement in Gaucher disease can affect quality of life. Different bone involvements can be confused with hematological diseases, infections and malignancy.CaseOur patient with bilateral femur involvement presented to us with a pathological fracture. After the pathological fracture was treated with a long leg splint and healed, we performed biopsy on our patient because of suspicious radiological findings. The pathology results reported gaucher disease with bone infiltration, during the time in which conservative follow up was taking place, eventually leading to the patient’s mobilization again.ConclusionThe bone findings of gaucher disease portray a difficult process that requires follow-up and treatment. It is crucial to scan patients periodically for possible vertebral and extremity symptoms. Vertebral and extremity fractures are situations that undoubtly require experience as they can imitate malignant masses.

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Micronodular pattern organising pneumonia mimicking miliary lung disease: a rare radiological presentation

BMJ Case Reports ◽

10.1136/bcr-2020-239856 ◽

2021 ◽

Vol 14 (2) ◽

pp. e239856

Author(s):

David Ng ◽

Garun Hamilton ◽

Eric Hu ◽

Kenneth Lau

Keyword(s):

Differential Diagnosis ◽

Interstitial Lung Disease ◽

Lung Disease ◽

Hypersensitivity Pneumonitis ◽

Imaging Findings ◽

Review Of The Literature ◽

Radiological Findings ◽

Rare Presentation

Organising pneumonia (OP) is an interstitial lung disease characterised by granulation tissues in alveoli and alveolar ducts. Typical imaging findings are migratory airspace opacities with peripheral or peribronchovascular distribution. Diffuse micronodular OP (MNOP) is a rare imaging manifestation, which has imaging differential diagnosis of endobronchial infection such as tuberculosis, hypersensitivity pneumonitis and respiratory bronchiolitis. Although clinical and ancillary radiological findings may aid in refining the differential diagnosis, histopathological assessment is frequently required for this rare presentation due to implications of treatment and prognosis. We report a case of MNOP and performed a review of the literature.

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Mixed germ cell tumor of the pituitary-hypothalamic region presenting as craniopharyngioma: case report and review of the literature

Arquivos Brasileiros de Endocrinologia & Metabologia ◽

10.1590/s0004-27302008000900015 ◽

2008 ◽

Vol 52 (9) ◽

pp. 1501-1504 ◽

Cited By ~ 6

Author(s):

Claudia Veiga Chang ◽

Vânia dos Santos Nunes ◽

Andre Carvalho Felicio ◽

Marco Antonio Zanini ◽

Malebranche B. C. Cunha-Neto ◽

...

Keyword(s):

Case Report ◽

Germ Cell ◽

Mature Teratoma ◽

Germ Cell Tumors ◽

Cartilaginous Tissue ◽

Review Of The Literature ◽

Radiological Findings ◽

Hypothalamic Region ◽

Radiological Features ◽

Mixed Germ Cell Tumor

Craniopharyngiomas and germ cell tumors (GCT) may affect the pituitary-hypothalamic region during childhood. Although different in origin, their clinical and radiological features may be similar. In this article we present a 5-year-old girl with clinical and radiological findings (computer tomography calcification) that were initially considered as craniopharyngioma. However clinical outcome, blood and cerebral spinal fluid tumoral markers, and results from anatomopathology and immunohistochemistry disclosed a mixed GCT. This case report highlights that some clinical features and radiological findings of pituitary-hypothalamic tumors may be misdiagnosed as craniopharyngioma mainly when there is a mature teratoma with cartilaginous tissue differentiation.

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Eosinophilic gastroenteritis: a case report and review of the literature

Italian Journal of Medicine ◽

10.4081/itjm.2012.327 ◽

2012 ◽

Author(s):

Paolo Biagi ◽

Luigi Abate ◽

Carmine Mellone ◽

Stefania Salvadori ◽

Andrea Peccetti ◽

...

Keyword(s):

Clinical Presentation ◽

Clinical Symptoms ◽

Eosinophilic Gastroenteritis ◽

Unknown Etiology ◽

Peripheral Eosinophilia ◽

Review Of The Literature ◽

Radiological Findings ◽

Complex Disorder ◽

Colonic Involvement ◽

Histologic Pattern

BackgroundEosinophilic gastroenteritis (EoG) is a rare disease of unknown etiology characterized by patchy or diffuse eosinophilic infiltration of the gastrointestinal tract wall. As clinical presentation and endoscopic/ radiological findings are nonspecific, diagnosis may only be ascertained by histologic findings.Clinical case This article presents a case of EoG with associated colonic involvement but without peripheral eosinophilia. Although no allergy could be demonstrated, the clinical symptoms and histologic pattern of diffuse eosinophilic mucosal infiltration disappeared after steroid therapy, as discovered by a careful endoscopic follow-up.Discussion Current concepts of this complex disorder and a review of the literature are presented.

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Rare causes of pulmonary hypertension: spectrum of radiological findings and review of the literature

La radiologia medica ◽

10.1007/s11547-013-0305-8 ◽

2013 ◽

Vol 119 (1) ◽

pp. 41-53 ◽

Cited By ~ 4

Author(s):

Alice Rossi ◽

Maurizio Zompatori ◽

Patrick Tchouante Tchouanhou ◽

Michele Amadori ◽

Massimiliano Palazzini ◽

...

Keyword(s):

Pulmonary Hypertension ◽

Review Of The Literature ◽

Radiological Findings

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Pleomorphic Adenomas of the Parapharyngeal Space

Case Reports in Otolaryngology ◽

10.1155/2014/168401 ◽

2014 ◽

Vol 2014 ◽

pp. 1-4 ◽

Cited By ~ 2

Author(s):

İstemihan Akın ◽

Tuğba Karagöz ◽

Murad Mutlu ◽

Mehmet Şahan ◽

Evrim Önder

Keyword(s):

Parapharyngeal Space ◽

Review Of The Literature ◽

Head And Neck Tumours ◽

Radiological Findings ◽

Case Presentation ◽

Transcervical Approach ◽

Pleomorphic Adenomas ◽

Preoperative Diagnostic ◽

Large Vessels ◽

Radical Approach

Background.Parapharyngeal space is one of potential facial planes for neoplasms and infections and represents less than 1% of all head and neck tumours. Occurrence of the pleomorphic adenoma in the parapharyngeal space is a rarity.Case Presentation.Here, three giant pleomorphic adenomas of different sizes occupying the parapharyngeal space in three patients are reported. Extensive preoperative diagnostic workup was done in order to verify the nature and size of the tumour and the proximity to the large vessels. Review of the literature, clinical features, pathology, radiological findings, and treatment of these tumours are discussed.Conclusion.The excision of the tumor through submandibular transcervical approach, without cutting the mandible, turned out to be a safe and radical approach in all three cases.

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Correction of knee deformity in patients with Ellis–van Creveld syndrome: A case report and review of the literature

The Knee ◽

10.1016/j.knee.2011.03.003 ◽

2012 ◽

Vol 19 (3) ◽

pp. 218-222 ◽

Cited By ~ 3

Author(s):

Jens Arne Jöckel ◽

Heiko Reichel ◽

Manfred Nelitz

Keyword(s):

Case Report ◽

Review Of The Literature ◽

Knee Deformity ◽

Ellis Van Creveld Syndrome

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Diagnosis and Management of Nonocclusive Mesenteric Ischemia

Digestive Disease Interventions ◽

10.1055/s-0038-1668569 ◽

2018 ◽

Vol 02 (03) ◽

pp. 240-243

Author(s):

Himani Agarwal ◽

Anil Pillai ◽

Sanjeeva Kalva

Keyword(s):

Early Diagnosis ◽

Clinical Diagnosis ◽

Mesenteric Ischemia ◽

Mortality Rates ◽

Review Of The Literature ◽

Radiological Findings ◽

Nonocclusive Mesenteric Ischemia ◽

Comprehensive Review ◽

The Past ◽

Venous Circulation

AbstractAcute hypoperfusion of the bowel without mechanical occlusion of the arterial or venous circulation is referred to as nonocclusive mesenteric ischemia (NOMI) and is responsible for approximately one fourth of all arterial causes of mesenteric ischemia. Patients present with nonspecific symptoms, making clinical diagnosis difficult. Prognosis is poor with high mortality rates. Mortality rates have improved during the past two decades from 80 to 50% due to early diagnosis and prompt initiation of treatment. In this review, we discuss the etiology, pathophysiology, and symptoms of NOMI as well as radiological findings and management along with comprehensive review of the literature.

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