European Journal of Case Reports in Internal Medicine

Gitelman Syndrome Diagnosed in a Woman in the Second Trimester of Pregnancy

2019-04-24T07:05:21+00:00

Gitelman syndrome is a rare renal tubule disease characterized by hypokalaemia, metabolic alkalosis, hypomagnesaemia, hypocalciuria and normal blood pressure. It shows autosomal recessive inheritance and is usually not diagnosed until late childhood or adulthood. We report the case of 34-year-old woman who at 21 weeks of pregnancy was admitted to the gynaecology department for abdominal pain, muscle cramps and weakness. Routine blood tests showed hypokalaemia (2.32 mEq/l), hypomagnesaemia (1.18 mEq/l), compensated metabolic alkalosis (pH 7.439, bicarbonate 26.1 mmol/l), increased urinary magnesium excretion (140.25 mg/day, normal range 73–122 mg/day) and reduced urinary calcium excretion (49.25 mg/day, normal range 100–250 mg/day). In light of these findings, the patient was diagnosed with Gitelman syndrome and optimum potassium and magnesium levels were maintained with oral supplements.

Secondary Parkinsonism Due to a Large Anterior Cranial Fossa Meningioma

2019-04-19T07:07:59+00:00

Secondary Parkinson’s disease or subacute Parkinson’s may occur after stroke, drug overdose carbon monoxide or manganese toxicity, and rarely owing to a brain tumor. Loss of dopaminergic neurons in the substansia negra pars compacta (SNc), or presence of the proteinaceous inclusions called Lewy bodies are thought to be the cause of Parkinson’s disease. Notwithstanding, in the past few decades, many case reports have been published describing Parkinson’s symptoms following either stroke, ischemia, toxicity, brain hemorrhage or rarely neoplasm.

The Perfect Storm: A Case of Non-Uremic Calciphylaxis

2019-04-17T07:16:02+00:00

Calciphylaxis is a severe condition associated with chronic kidney disease. We describe a rare case of non-uremic calciphylaxis in a 79-year-old woman with prosthetic aortic and mitral valves, chronic kidney disease and anaemia, who presented with painful skin lesions on her left leg. She was taking warfarin, calcium and iron supplements, and had been recently diagnosed with oligoarthritis and started on prednisolone, all factors associated with calciphylaxis. Despite treatment, the lesions rapidly progressed to large ulceration and sepsis, and pain management was challenging. Calciphylaxis was confirmed following a second skin biopsy but the patient died from septic shock and multi-organ failure. This case highlights the challenges associated with the diagnosis and treatment of calciphylaxis despite a high level of suspicion.

A Rare Case of Adult Acute Disseminated Encephalomyelitis Associated with Primary Epstein-Barr Virus Infection

2019-04-15T07:40:54+00:00

We report a rare case of acute disseminated encephalomyelitis (ADEM) secondary to a primary Epstein-Barr (EBV) infection, in a 22-year-old male. Symptomatic infectious mononucleosis and ADEM are both quite uncommon conditions in this age group.

Olmesartan-Associated Enteropathy: An Unexpected Cause of Chronic Diarrhoea

2019-04-12T07:14:54+00:00

Olmesartan-associated enteropathy is a rare cause of severe enteropathy that should be considered in the differential diagnosis of patients with unexplained chronic diarrhoea. It may be difficult to recognise because of its clinical and histologic similarities to other clinical entities. The authors present the case of a 72-year-old woman with a 6-month clinical history of non-bloody diarrhoea and weight loss. Discontinuation of olmesartan resulted in clinical and histologic recovery, and therefore, physicians need to be aware of olmesartan-associated enteropathy in order to avoid unnecessary testing. Although rare, it is considered an emerging and underdiagnosed enteropathy.

When Do Ring-Enhancing Brain Lesions Need to Be Biopsied, and Should They Be Treated Empirically First?

2019-04-10T07:25:55+00:00

Other than acute cerebrovascular accidents, multiple ring-enhancing lesions are among the most common lesions encountered in neuroimaging. We herein describe the case of a 63-year-old diabetic man presenting with altered mental status, hyperglycaemia and community-acquired pneumonia who was found to have two ring-enhancing lesions involving the left frontal lobe and left basal ganglia. The lesions were biopsied to reveal positive fungal cultures and toxoplasma cysts. RPR titres returned reactive for non-treponemal antibodies and a suppressed CD4 count was found without evidence of HIV infection.

An Unusual Presentation of Metastatic Breast Carcinoma

2019-04-08T08:01:52+00:00

Cutaneous metastasis from a carcinoma is a relatively uncommon phenomenon. Prompt diagnosis is crucial, as it will have future implications, particularly regarding prognosis and treatment. Skin metastases can be suspected and recognized earlier through physical examination than metastases in other organs or systems. However, they can be a diagnostic challenge due to the variable clinical presentation. This case highlights the importance of having a high index of suspicion for cutaneous metastases, especially in patients with a previous history of cancer.

Cardiac Angiosarcoma: From Cardiac Tamponade to Ischaemic Stroke – A Diagnostic Challenge

2019-04-03T07:04:30+00:00

Cardiac angiosarcoma (CA) is the most common primary malignant heart tumour. Its atypical symptoms and rapidly progressive nature contribute to delayed diagnosis and poor outcome. We report the case of a 52-year-old woman admitted with a large pericardial effusion. An extensive study of the aetiology of the pericardial effusion was inconclusive. Two months later the patient returned with ischaemic stroke. An echocardiogram revealed a probable right atrium contained rupture. The patient was submitted to surgical correction but died 9 days later. Histology revealed an angiosarcoma. This case exemplifies the atypical presentation of CA and highlights the importance of a multimodal diagnostic work-up in patients with idiopathic pericardial effusion.

Systemic Amyloidosis with Renal Failure: A Challenging Diagnosis of SAPHO Syndrome

2019-03-27T08:12:24+00:00

Synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome is a rare, unrecognized and chronic inflammatory disorder characterized by distinct cutaneous and osteoarticular manifestations. Renal complications are uncommon. We describe the unusual case of a patient with severe refractory and chronic hidradenitis suppurativa (HS) that progressed to chronic renal failure due to secondary amyloidosis, presenting with mandibular pain and renal failure. The challenging diagnosis of SAPHO syndrome was made. The purpose of this case report is to emphasize the need for vigilance, timely recognition and multidisciplinary treatment. The fundamental management of AA amyloidosis and SAPHO syndrome requires an individualized approach with control of the underlying inflammatory disease.

Intra-Alveolar Haemorrhage Complicating IgA Vasculitis: A Case Report, Literature Review and Discussion of Treatment

2019-03-25T08:50:14+00:00

Introduction: Immunoglobulin A vasculitis (IgAV) is a small-vessel vasculitis with IgA-dominant immune deposits. IgAV frequently involves the skin, gastrointestinal tract, joints and kidneys. In contrast to other types of small-vessel vasculitis, IgAV is rarely complicated by intra-alveolar haemorrhage (IAH).
Methods/Results: We describe a patient with relapsing bladder cancer who presented with IAH during the course of IgAV successfully treated with corticosteroids alone.
Conclusion: This case report reminds us that IgAV can manifest with IAH. There are no robust data to support the systematic use of cyclophosphamide or plasma exchange as first-line therapy for IgAV with IAH.