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1.
BMJ Case Rep ; 15(1)2022 Jan 17.
Article in English | MEDLINE | ID: mdl-35039369

ABSTRACT

A 34-year-old man was referred to the outpatient clinic because of progressive abdominal pain, weight loss and pancytopenia. His body mass index (BMI) had fallen to 14.2 kg/m2 A CT angiography (CTA) showed narrowing of the truncus coeliacus with poststenotic dilation, and duodenal biopsy revealed ischaemia establishing a rare diagnosis: median arcuate ligament syndrome (MALS). This explained the postprandial pain and minimal intake. Further pancytopenia workup was performed. The bone marrow displayed gelatinous marrow transformation (GMT), a rare disorder of unknown pathogenesis, which has been associated with severe malnutrition. The final diagnosis was pancytopenia secondary to GMT due to severe malnutrition caused by MALS. The abnormalities in the bone marrow may be reversible by restoring nutritional status. This case emphasises the awareness of GMT in patients with weight loss, malnutrition and cytopenias. To our knowledge, this is the first report demonstrating an association between pancytopenia and MALS.


Subject(s)
Median Arcuate Ligament Syndrome , Pancytopenia , Adult , Bone Marrow , Celiac Artery , Humans , Male , Pancytopenia/etiology , Weight Loss
2.
BMJ Case Rep ; 14(2)2021 Feb 04.
Article in English | MEDLINE | ID: mdl-33541953

ABSTRACT

A previously healthy 40-year-old man was referred to our emergency department with pruritic skin lesions and dyspnoea. Laboratory investigation revealed hypereosinophilia. Further diagnostic work-up confirmed the diagnosis of idiopathic hypereosinophilic syndrome (iHES), a rare myeloproliferative disease with a heterogeneous clinical presentation. We describe a unique case with cardiac, pulmonary, hepatic and cutaneous involvement at time of presentation. This case accentuates the importance of an extensive multidisciplinary diagnostic work-up, since iHES is a condition with potential rapid progressive multiorgan failure which requires prompt analysis and treatment. In addition, this case emphasises the importance of being aware of tunnel vision, especially during the COVID-19 pandemic, which might give rise to an increased risk of missing rare diagnoses. Our patient was treated with prednisolone, after which both his clinical condition and eosinophil concentrations markedly improved.


Subject(s)
Hypereosinophilic Syndrome/diagnosis , Hypereosinophilic Syndrome/pathology , Adult , Anti-Inflammatory Agents/therapeutic use , Biopsy/methods , COVID-19/diagnosis , Diagnosis, Differential , Dyspnea/complications , Eosinophils/pathology , Humans , Hypereosinophilic Syndrome/complications , Hypereosinophilic Syndrome/drug therapy , Male , Prednisolone/therapeutic use , SARS-CoV-2 , Skin Diseases/complications , Skin Diseases/diagnosis , Tomography, X-Ray Computed/methods , Treatment Outcome
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