Vol 4 No 2
  • Ángel Torralba-Morón, Juan Ortiz-Imedio, Montserrat Morales-Conejo, Juan Ruiz-Morales, Juan-Manuel Guerra-Vales

    Background: Delayed leukoencephalopathy (DL) is a rare entity associated with cerebral hypoxia and heroin consumption. We describe the clinical course of three cases of DL due to non-heroin drug use.
    Material and methods: We describe the cases of three DL patients admitted to our hospital in 2012.
    Discussion: These cases contribute to the aetiological spectrum of DL since multifactorial causes could account for the clinical symptoms.

  • Angela Daher, Fady Haddad

    Radial mononeuropathy most commonly manifesting as wrist drop is generally secondary to penetrating trauma to the radial nerve or compression injuries. It may also involve sensory changes depending on the location of the lesion. However, it has never been described as a sign of an inflammatory process, in particular an autoimmune disease. We describe the case of a 55-year-old man who was admitted for wrist drop with bilateral paraesthesia of the upper extremities. Based on his medical history, we diagnosed Behçet’s disease and subsequently neuro-Behçet’s disease. He is receiving treatment with notable improvement. Neurological involvement in Behçet’s disease is common but frequently undiagnosed.

  • Annamaria Gesualdo, Rossana Tamburrano, Antonia Gentile, Antonio Giannini, Giuseppe Palasciano, Vincenzo Ostilio Palmieri

    Inflammatory pseudotumor (IPT) of the liver is a rare, benign lesion of unclear etiology, which may be misdiagnosed as hepatocellular carcinoma, cholangiocarcinoma, secondary tumor or abscess, because of its non-specific clinical, biochemical and radiologic findings. We present the case of a 48-old-year male in whom diagnosis of liver IPT was suspected by contrast enhanced ultrasound (CEUS) and confirmed by fine-needle liver biopsy. The diagnosis is in contrast to most of the literature reports in which the diagnosis was made only based on a surgical specimen.

  • Carolina Oliveira Ourique, Inês Chora, Susana Guimarães, Sara Júlio, Paula Vaz-Marques

    A 23-year-old woman, a smoker and oral oestrogen user, presented with nasal necrosis. No other symptoms or local trauma were described. Relevant laboratory findings included complement consumption, positive lupus-anticoagulant assay, increased rheumatoid factor and positive cryoglobulins. Screening for autoimmune conditions, haematological malignancies and infectious diseases was negative. Histological examination of the nasal skin showed small vessel occlusion without vasculitis. Later, a second positive lupus-anticoagulant assay supported the diagnosis of antiphospholipid syndrome. The patient improved with glucocorticoids and anticoagulation. This case report describes an unusual manifestation of antiphospholipid syndrome in a patient with cryoglobulinaemia contributing to the thrombotic event and highlights the importance of recognizing these overlapping disorders.

  • Filipa Brás Monteiro, Sofia Cristóvão Ferreira, Rita Mendes

    Background: Human intestinal spirochetosis is a condition defined by the presence of spirochetes attached to the colonic epithelium. Brachyspira aalborgi and Brachyspira pilosicoli may cause the disease in humans.
    Case report: We describe the case of a 58-year-old patient who presented with epigastric abdominal pain and diarrhoea. He was thought to be having a myocardial infarction and underwent an angiogram with subsequent stenting of the circumflex coronary artery. However, the pain and diarrhoea were still present after the procedure and the patient now had sepsis. An exploratory laparotomy was inconclusive. The patient improved on intravenous antibiotics and was discharged, but returned to the emergency department 2 days later with the same complaints. He was then admitted to an internal medicine ward where the diagnosis of intestinal spirochetosis was made. The patient was started on metronidazol and completed a 10-day antibiotic course with full recovery of his symptoms.
    Conclusion: This case highlights the importance of an internist-based approach that could have prevented two invasive procedures and the accompanying risks.

  • Lidor Akavia, Ilan Krauze

    Introduction: Hypoglycaemia associated with non-islet cell tumours (NICTH) is a rare entity in patients with extra-pancreatic malignancies, mostly attributed to large mesenchymal or epithelial tumours. Anaplastic large cell lymphoma has not previously been associated with NICTH, making this the first publication of such a report.
    Patient and methods: A 22-year-old, non-diabetic patient was admitted to our department with malaise, itching, night sweats and weight loss. Serum glucose levels at presentation were extremely low, reaching 3 mg/dl at the lowest. Further investigations revealed undetectable blood insulin and C-peptide levels, together with low IGF-1 (34 ng/ml) levels. Inguinal lymph node biopsy showed anaplastic large cell lymphoma, and bone marrow biopsy along with supporting blood tests revealed haemophagocytic lymphohistiocytosis.
    Discussion: In conjunction with an adequate hyperglycaemic response to intravenous glucagon, all of the above findings indicate hypoglycaemia as a result of overproduction of high molecular weight IGF-2 precursor protein, generally referred to as ‘Big IGF-2’. Large solid tumours can occasionally produce loosely bound or free Big IGF-2 molecules which circulate throughout the plasma and bind to insulin as well as IGF receptors, thus increasing glucose intake by body tissues, decreasing the release of glucose to the bloodstream by the liver and causing feedback suppression of insulin, IGF-1 and growth hormone production. Therefore, it is exceptional to find Big IGF-2-related hypoglycaemia in non-solid tumours. Our case shows that, although extremely uncommon, rare instances of NICTH can be attributed to the production of Big IGF-2 in non-solid malignancies including anaplastic large cell lymphoma.

  • Hugo M Oliveira, Claudia Pereira, Ermelinda Santos-Silva, Jorge Pinto-Basto, José R Vizcaíno, Helena Pessegueiro-Miranda

    Background: Some patients exhibit features of both autoimmune hepatitis (AIH) and primary sclerosing cholangitis (PSC). Similarly, patients with progressive familial intrahepatic cholestasis type 3 (PFIC3) may share histological features with PSC.
    Case report: We report the case of a 22-year-old man who, since he was 5 years of age, has presented with pruritus, an approximately ninefold elevation of aminotransferases, and γ-glutamyl transferase levels ~10 times the upper limit. Initially he was diagnosed with an overlap syndrome of small duct PSC plus AIH. However, fluctuations in liver enzymes were observed over the following years. Analysis of the ABCB4 gene indicated the diagnosis of PFIC3, revealing a mutation not previously reported.
    Conclusion: With this case report we aim to describe a new mutation, raise awareness of this rare pathology and highlight the importance of genetic testing of the ABCB4 gene in patients with autoimmune liver disease (mainly small duct PSC) with incomplete response to immunosuppressive treatment.

  • Itala Marina Baldini, Cristina Cocino, Sonia Seghezzi, Maria Domenica Cappellini

    Thyroid stimulating hormone (TSH)-suppressive therapy with levothyroxine is a cornerstone of thyroid carcinoma follow-up therapy, but the achievement of therapeutic goals must be balanced against L-T4 side effects. We describe the case of a 64-year-old cardiopathic patient with papillary thyroid carcinoma and autoimmune thyroiditis, whose cardiac condition worsened during TSH-suppressive therapy. TSH concentrations also fluctuated widely because of changing intestinal absorption due to coeliac disease.