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Gyselinck I.,ASO Inwendige KUL | Arts J.,Dienst gastro enterologie | De Gersem R.,Dienst nucleaire geneeskunde
Tijdschrift voor Geneeskunde | Year: 2016

Idiopathic bile acid malabsorption: clinical pictures, pathogenesis and treatment In this case report, the medical history of an 18-year-old adolescent, who suffered from chronic diarrhoea and had nonspecific abdominal complaints, is reported. A 23-seleno- 25-homotaurocholic acid (SeHCAT) scan revealed an underlying problem of idiopathic bile acid malabsorption. The clinical picture didn't show alarming features or clear signs of an organic cause for the diarrhoea. Hence, one could be tempted to categorize the complaints as being functional. However, the clinician should be aware of the extensive differential diagnosis of chronic diarrhoea. Still, in daily practice, the prevalence of mild organic pathology, especially bile acid malabsorption, is underestimated. This case brings attention to a lesser known, but nevertheless common and efficiently treatable cause of chronic diarrhoea.

Coppens G.,Universitair Ziekenhuis Gent | Dobbels P.,Dienst Gastro enterologie | Vandervoort J.,Dienst Gastro enterologie
Tijdschrift voor Geneeskunde | Year: 2015

The medical history of a 49-year-old man with terminal ileitis as a manifestation of his Crohn's disease is reported. Despite the treatment with antibiotics, corticosteroids and azathioprine, his condition worsened with a lasting fever, a high C-reactive protein (CRP), a high neutrophil count, episcleritis, muscle ache and joint pain, as well as the appearance of folliculitis and afterwards erythematous plaques on the skin of the head, the forearms and the thighs. The latter symptoms, occurring in a patient with active Crohn's disease who recently started treatment with azathioprine, suggested Sweet's syndrome. A biopsy of one of the skin lesions confirmed the diagnosis. After the withdrawal of azathioprine, a further treatment with corticosteroids and antibiotics, as well as starting infliximab, a quick resolution of the symptoms occurred.

Eosinophilic gastroenteritis is uncommon. The eosinophilic granulocyte is the central actor. Activation results in degranulation of eosinophilic granules and tissue damage. An association with food allergies and atopy is presumed. The clinical presentation is variable. Persisting gastrointestinal complaints necessitate taking biopsies which ultimately reveal tissue eosinophilia as the most prominent and diagnostic characteristic. Therapy with corticoids can lead to an overt response in most cases. The importance to confirm or rule out an underlying EGE in cases of persisting gastrointestinal symptomatology is emphasized.

Sleeckx S.,Dienst gastro enterologie | Maertens V.,Dienst hematologie | Christiaens P.,Dienst gastro enterologie
Tijdschrift voor Geneeskunde | Year: 2014

The medical history of a 51-year-old woman with diarrhoea after travelling to South-Africa is discussed. She presented with abdominal discomfort with an abnormal stool production, changing from constipation to watery diarrhoea and back. During the observation, she initially developed bloody diarrhoea and fever, though under a symptomatic therapy the complaints disappeared after five days. After a thorough investigation, the diagnosis of a stage IV mantle cell lymphoma (MCL) was made based on the results of a colon biopsy. An MCL is a rare subgroup of the Non-Hodgkin lymphomas with the chromosomal t(11:14) translocation as the molecular hallmark, resulting in the overexpression of cyclin D1, which is detectable by immunohistochemistry on the biopsy. The diagnosis is made upon a biopsy of the involved organs. The most common extranodular involvement is the gastrointestinal tractus. After standard chemotherapy followed by stem cell transplantation, no evidence of residual disease occurred.

Devriendt K.,Catholic University of Leuven | D'heygere F.,Dienst gastro enterologie
Tijdschrift voor Geneeskunde | Year: 2013

The medical history of a 50-year-old man with dyspepsia is reported. The patient has an 18-year-old daughter affected with rectal polyps. An oesophagogastro- duodenoscopy and a total coloscopy revealed the presence of distinct polyps in the gastrointestinal tract. The diagnosis of juvenile polyposis syndrome (JPS) is made, an autosomal dominantly inherited disease. Histopathologically, juvenile polyps have a prominent stromal compartment containing distorted and cystic dilated crypts, often lined by cuboidal to columnar epithelium with reactive changes. Approximately 20% of the patients carry a mutation in the SMAD4 gene and another 20% in the BMPR1A gene. Both genes are involved in the TGF-b (transforming growth factor-b) signaling pathway. This pathway plays an important role by regulating cell proliferation and differentiation. In this patient, a loss of SMAD4 was found. Due to the increased risk to gastric and colorectal cancer progression, a subtotal colectomy and follow-up of the rectosigmoid and the stomach are indicated.

Moubax K.,Dienst IG Algemene Interne Geneeskunde | D'Heygere F.,Dienst Gastro enterologie
Tijdschrift voor Geneeskunde | Year: 2012

The medical history of a 17-year-old girl who presented at the emergency with high fever, hypotension and erythema at the feet, is discussed. This was caused by the toxic shock syndrome (TSS), as a consequence of the use of tampons. TSS is a serious but uncommon infection caused by toxins, produced by either Staphylococcus aureus bacteria or by Streptococcus bacteria. TSS can involve all organ systems. Therefore, the disease can be life-threatening. It is not clear whether antibiotics alter the course of acute TSS, but they inhibit growth of the causal organism.

Moubax K.,Dienst IG Algemene Interne Geneeskunde | George C.,Dienst Gastro enterologie
Tijdschrift voor Geneeskunde | Year: 2013

The medical history of a 73-year-old man with complaints of taste loss and serious weight loss since several months is reported. Extended investigations by the neurologist and the ear-nose-throat specialist revealed no real explanation. Ultimately, the patient developed liver failure with severe cholestasis. A liver biopsy revealed amyloid accumulation at the space of Disse. Systemic amyloidosis is a severe disease. An overview of the involvement of the liver and the gastro-intestinal tractus, as well as the diagnosis and treatment options are described.

Boeykens K.,Nutritieteam | Naessens B.,Dienst Gastro enterologie
Tijdschrift voor Geneeskunde | Year: 2012

This manuscript describes the medical history of a male patient whose gastrostomy tube completely migrated into the gastrointestinal tract after being dismantled by the patient himself. A gastroscopy on admission revealed that the tube had already passed the angle of Treitz. The patient was treated conservatively with daily X-rays and laxatives. To be prepared in case of an urgent laparotomy due to perforation or obstruction, his anticoagulation therapy was preliminarily stopped and his prothrombin time (PT) corrected. On day 5, an X-ray revealed that the tube was positioned in the rectum together with a fecaloma. After a clysma and a rectal toucher, both the tube and the fecaloma migrated outwards on day 7.

Wuyts L.,University of Antwerp | Steger P.H.,Dienst Gastro enterologie | Fierens H.,Dienst Gastro enterologie
Tijdschrift voor Geneeskunde | Year: 2015

The hereditary hyperferritinemia-cataract syndrome (HHCS) is a syndrome characterized by an autosomal dominantly inherited cataract associated with elevated levels of serum ferritin, but otherwise normal iron studies and haematological parameters. A mutation in the L-ferritin gene creates an overexpression of the L-ferritin, resulting in hyperferritinemia. An elevated serum ferritin requires a thorough haematological examination to determine the cause. The combination with a normal serum iron and transferrin saturation is indicative of HHCS and requires an ophthalmologic examination. The only clinical presentation of HHCS is an early-onset cataract caused by the crystalline deposition in the lens. The cataract is highly distinctive in morphology and can be visible without a symptomatic cataract. Without a positive family history, the possibility of a de novo mutation should not be neglected. Apart from a lens extraction, patients with HHCS do not require any treatment. In contrast to hereditary hemochromatosis, the hyperferritinemia is not associated with an iron overload. The distinction with hemochromatosis is necessary to avoid invasive diagnostics and harmful treatments. The ophthalmologist should consider this condition when confronted with juvenile cataract. The medical history of a 19-year-old woman treated for hirsutism is presented. An exploratory blood test for an endocrinological evaluation revealed a highly elevated serum ferritin not related to an iron overload. Her mother also suffered from bilateral cataract. Other causes for the hyperferritinemia were excluded and a DNA research was conducted. The investigation identified a heterozygous genetic variant in the loop of the iron-responsive element of the L-ferritin gene, also known as the Paris-I mutation, causing HHCS.

Steverlynck M.,Dienst IG algemene interne geneeskunde | D'Heygere F.,Dienst Gastro enterologie
Tijdschrift voor Geneeskunde | Year: 2011

The clinical history of a 24-year-old woman with recurrent episodes of severe vomiting, is reported. The patient was already frequently hospitalised and extensively investigated before. Finally, she was diagnosed with the cannabinoid hyperemesis syndrome due to the observation of the occurrence of frequent compulsive hot showers. The cannabinoid hyperemesis syndrome is caused by the chronic use of marijuana. It is characterized by nausea, therapy resistant vomiting, abdominal pain and a typical compulsive bathing pattern, relieving the symptoms. The nature of its association with vomiting remains unclear. The only proven therapy is abstinence from marijuana use.

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