Acute bowel intussusception revealing celiac disease: a new case and literature review

Introduction

Acute bowel intussusception is a rare manifestation in adult, which mainly involves the small intestine. Celiac disease is a frequent small bowel disease that is largely undiagnosed in adults. We report a patient in whom spontaneously regressive small bowel intussusception was the presenting manifestation of celiac disease.

Case report

A 40-year-old man was admitted for a right-sided iliac abdominal pain related to a small bowel intussusception. Laparotomy ruled out a digestive tumor. Persistence of diffuse abdominal pain associated with progressive and unexplained weight loss for several months led to the diagnosis of celiac disease, which was confirmed by the presence of specific serum autoantibodies and histological duodenal villous atrophy.

Conclusion

The association between small bowel intussusception and celiac disease does not seem to be fortuitous. Based on this report and the literature review, we suggest that celiac disease can favour small bowel intussusception, even in adulthood. Therefore, diagnosis of celiac disease must be discussed in the presence of unexplained intussusception.     

Spontaneous pneumothorax and Recklinghausen's disease: a case report

The Von Recklinghausen disease is a genetic hereditary neurofibromatosis. It causes neurofibroma, axillary and inguinal lentigines, and café-au-lait spots in the skin. It may affect the lung in 5 to 20% of cases, causing neurofibroma, infiltrative and cystic lesions, emphysematous or bubble injury leading to a chronic respiratory failure. The risk of pneumothorax in theses cases seems higher. Few reviews reported the pulmonary manifestations in the Recklinghausen disease and specially the pneumothorax as a complication while the direct relation between this neurofibromatosis and the lung disease is not clearly established yet. We report a case report of spontaneous pneumothorax with slow evolution complicating the course of a patient with Recklinghausen disease.     

Holmes-Adie syndrome, autoimmune hepatitis and celiac disease： A case report

A 35-year-old female patient presented with the following symptoms of Holmes-Adie syndrome: photophobia, enlargement of the left pupil unresponsive to light, Achilles areflexia. The pilocarpine test was positive. No tumor or other neurological abnormality was found. She had a 19-year history of autoimmune hepatitis. Flares up were observed following each 3 deliveries. At age of 31 she presented with diarrhea and weight loss. Abdominal tumor was detected by ultrasound. The surgically removed tumor was histologically a benign mesenteric multicystic lymphangioma. Simultaneously, celiac disease was diagnosed. Gluten-free diet resulted in a significant improvement of celiac disease, but not of autoimmune hepatitis. Autonomic neuropathy was proven by standard cardiovascular tests. The patient was a homozygous carrier for HLA DQ2 antigen characteristic for celiac disease and heterozygous for HLA DR3 B8 frequent in autoimmune liver diseases. Our novel observation on association of Holmes-Adie syndrome with autoimmune hepatitis and celiac disease is suggestive for a common immunological background for all three entities present in a patient with mesenteric multicystic lymphangioma.     

Successful infliximab treatment for steroid-refractory celiac disease: a case report

Celiac disease is a T cell-mediated enteropathy induced by gluten in genetically predisposed individuals. The majority of patients responds to a gluten-free diet but a small number do not. After the exclusion of gluten in the diet, ulcerative jejunititis, and an enteropathy-associated T-cell lymphoma, another treatment modalities, such as systemic steroids and immunosuppressives, may be necessary. This article reports the case of a 47-year-old white woman with immunoglobulin A deficiency. She was diagnosed with celiac disease with subtotal villous atrophy on jejunal biopsy together with positive antiendomysium and antigliadin immunoglobulin G antibodies. Despite close adherence to a gluten-free diet, her weight continued to decrease, she had diarrhea, and her distal duodenal histology showed no improvement. Some improvement in her symptoms was observed with cyclosporine and systemic steroids, but this was not sustained. Recent evidence has suggested that anti-tumor necrosis factor alpha antibodies have a role in the amelioration of an animal model of villous atrophy, and after careful consideration, she was treated with infliximab. There was a dramatic improvement in her weight, symptoms, and distal duodenal histology. The response has been maintained for 18 months while on azathioprine therapy. It is concluded that infliximab is an effective treatment that may be considered in a small number of patients with refractory celiac disease, resistant to other therapy.     

Recurrent pulmonary cryptococcosis during chronic HBV infection: A case report

Rationale:Pulmonary cryptococcosis is one of the important opportunistic infections and has a wide range of symptoms depending on the underlying conditions. Here, we reported a case living with chronic hepatitis B virus infection who had a recurrent pulmonary cryptococcosis.Patient concerns:A 51-year-old male patient was admitted to our center because of cough, fatigue, and shortness of breath for 2 weeks.Diagnosis:Pulmonary infection was suggested by chest computed tomography. Most lab examinations for infection were negative and only cryptococcal antigen testing was positive. Therefore, a clinical diagnosis of pulmonary cryptococcosis was made.Interventions:Fluconazole (200 mg/day) and bicyclol (50 mg/day) was given orally.Outcomes:During the follow-up of 3 and 6 months, his conditions improved, and he recovered fully. Moreover, cryptococcal antigen level was 12.57 ng/mL. During the 2-year follow-up, no recurrence occurred.Lessons:This case highlights the importance of the awareness of opportunistic infections during chronic hepatitis B virus infection, especially the potential of recurrence.     

Celiac disease revealed by hypocalcemia complicating total thyroidectomy: a case report

In order to illustrate a particular circumstance of diagnosis of celiac disease, we report the case of 54-year-old women with a history of thyroid enlargement with normal thyroid function and positive anti-peroxidase antibodies. Immediately after total thyroidectomy with preservation of the parathyroid glands, she developed tetany with total serum calcium level at 50mg/l. Intravenous calcium infusion increased the calcium level and led to resolution of hypocalcemia-induced signs but there was no result when calcium and vitamin D were taken orally. The diagnosis of malabsorption was very probable in light of the family history of celiac disease, the anemia and the hypoalbuminemia. The diagnosis was confirmed by antibodies assay and endoscopy. The PTH level was less than 1 pg/l and radiography showed signs of hyperparathyroidism. Gluten-free diet, calcium and vitamin D led to an improvement of serum calcium.     

Kikuchi disease and lupus: case report, literature review and FDG PET/CT interest

Kikuchi disease is a rare entity characterized by lymphadenopathy and fever. Pathology study of lymph node biopsies provides the diagnosis. The disease course is favorable. The disease can occur isolated, or associated with other pathologies including lupus or mixed connective tissue disease. We report a case of Kikuchi disease in a 35-year-old woman, occurring 12?years after the diagnosis of overlap syndrome with antiphospholipid antibodies. The patient was given prednisone 25mg per day and long-term hydroxychloroquine. FDG PET/CT showed FDG-avidity nodular masses. After bolus corticosteroid therapy, outcome was favorable with disappearance of metabolic hyperactivity on the FDG PET/CT. The bolus prednisone treatment could then be discontinued. In the 61?cases of Kikuchi disease and lupus associations previously published, Kikuchi disease was diagnosed after lupus in only 13?% of the observations. In these cases, use of FDG PET/ CT was not reported. For us, FDG PET/CT was useful for diagnosis, for choosing the biopsy site and for follow-up.     

A trichobezoar in a child with undiagnosed celiac disease: A case report

Celiac disease is a chronic, immune-mediated enteropathy caused by a permanent sensitivity to ingested gluten cereals that develops in genetically susceptible individuals. The classic presentation of celiac disease includes symptoms of malabsorption but has long been associated with cognitive, emotional, and behavioral disorders. We describe an 8-year-old patient with nonscarring alopecia and diagnosed with trichotillomania. Furthermore, she presented with a 3-year history of poor appetite and two or three annual episodes of mushy, fatty stools. Laboratory investigations showed a normal hemoglobin concentration and a low ferritin level. Serologic studies showed an elevated tissue immunoglobulin G anti-tissue transglutaminase level. A duodenal biopsy showed subtotal villous atrophy and crypt hyperplasia, and a large gastric trichobezoar was found in the stomach. Immediately after beginning a gluten-free diet, complete relief of trichotillomania and trichophagia was achieved. In this report, we describe a behavioral disorder as a primary phenomenon of celiac disease, irrespective of nutritional status.     

Recurrent respiratory papillomatosis with pulmonary involvement: A case report and review of the literature

Recurrent respiratory papillomatosis (RRP) is a viral infection that usually affects the upper airways. Although it can spread throughout the respiratory tract, involvement of the lung parenchyma is quite rare. Radiographic images of RRP with lung involvement have been mainly presented in case reports of paediatric patients. We present the case of an adult patient with RRP and lung involvement, and detail the serial radiographic manifestations. CT and reconstructed images were obtained. The literature was also reviewed and radiographic features of RRP with lung involvement are summarized.     

Multiple cerebral lesions in a patient with refractory celiac disease: A case report

BACKGROUNDEnteropathy-associated T cell lymphoma (EATL) is an aggressive intestinal T cell lymphoma derived from intraepithelial lymphocytes, which occurs in individuals with celiac disease (CD). Cerebral involvement is an extremely rare condition and as described so far, lymphoma lesions may present as parenchymal predo-minantly supratentorial or leptomeningeal involvement. We describe a case of EATL with multifocal supra- and infratentorial brain involvement in a patient with refractory celiac disease (RCD).CASE SUMMARYA 58-years old man with known CD developed ulcerative jejunitis and was diagnosed with RCD type II. Six months later he presented with subacute cerebellar symptoms (gait ataxia, double vision, dizziness). Cranial magnetic resonance imaging (MRI) revealed multifocal T2 hyperintense supra- and infratentorial lesions. Laboratory studies of blood and cerebrospinal fluid were inconspicuous for infectious, inflammatory or autoimmune diseases. ¹⁸F-fluorodeoxyglucose-positron emission tomography/computed tomography (¹⁸FDG-PET/CT) scan showed a suspect hypermetabolic lesion in the left upper abdomen and consequent surgical jejunal resection revealed the diagnosis of EATL. During the diagnostic work-up, neurological symptoms aggravated and evolved refractory to high-dosage cortisone. Recurrent MRI scans showed progressive cerebral lesions, highly suspicious for lymphoma and methotrexate chemotherapy was initiated. Unfortunately, clinically the patient responded only transiently. Finally, cerebral biopsy confirmed the diagnosis of cerebral involvement of EATL. Considering the poor prognosis and deterioration of the performance status, best supportive care was started. The patient passed away three weeks after diagnosis.CONCLUSIONEATL with cerebral involvement must be considered as a possible differential diagnosis in patients with known RCD presenting with neurological symptoms.     

Chlorambucil-induced pulmonary disease: a case report and review of the literature

 A 77-year-old man developed pneumonitis while on chlorambucil therapy for chronic lymphocytic leukemia, with a cumulative dose of 2700 mg. The condition improved promptly with the discontinuation of the drug and initiation of steroids. A case report and review of the literature are presented in this paper. Received: September 9, 1997 / Accepted: March 31, 1998     

Positive octreotide scintigraphy and determination of lanreotide activity in Paget's disease of bone associated with phosphate diabetes: a case report

A patient with Paget's disease developed phosphate diabetes (phosphate: 1.6 mg/dl (2.5-4.4 mg/dl), with 29 ml/min phosphate clearance (Nl<15ml/min) and a 65% phosphate reabsorption rate (Nl>85%). As previously demonstrated in tumor-induced osteomalacia, we hypothesized that osteoblasts might manifest somatostatin receptor activity. The patient underwent an octreotide scan which demonstrated increased uptake localized in affected bone. Under lanreotide treatment (40 mg i.m.), the patient's bone pain improved with a concomitant decrease in phosphate alkaline level. Phosphate clearance and tubular readsorption rate of phosphate did not change significantly. We reviewed previously reported cases of associated Paget's bone disease and phosphate diabetes.     

Autoimmune cholangitis in a patient with celiac disease: a case report and review of the literature

Autoimmune cholangitis is a rare chronic cholestatic liver disease. We describe the case of a 65-year-old woman with celiac disease who presented to us with fever, jaundice and weight loss. Serum biochemical study showed marked increase in alkaline phosphatase and gammaGT levels. Antinuclear antibodies were positive, while antimitochondrial and anti-smooth-muscle antibodies were negative. Liver biopsy was compatible with primary autoimmune cholangitis. The patient was successfully treated with azathioprine and methylprednisolone. We describe here the uncommon association of autoimmune cholangitis with celiac disease and review the prevalence of liver diseases in patients with celiac disease.     

Atypical celiac disease with IgA deficiency presenting as Plummer–Vinson syndrome: a case report

A 40-year-old man presented with insidious onset dysphagia for both solids and liquids for 4 years with recurrent oral ulcerations. On examination he was anemic, and barium swallow demonstrated a web in the postcricoid region. As part of the workup for unexplained iron deficiency anemia, a duodenal biopsy was taken that revealed moderate flattening of villi with increased intraepithelial lymphocytes consistent with the diagnosis of celiac disease. However, the serological tests for celiac disease (IgA antiendomysial antibody, IgA antitissue transglutaminase antibody, and IgA antigliadin antibody) were all negative. Serum level of IgA was markedly low. A diagnosis of atypical celiac disease with severe selective IgA deficiency was made. After the institution of a gluten-free diet (GFD), his general condition as well as anemia improved. Histological recovery was documented on repeat duodenal biopsy 6 months after GFD.     

Midaortic syndrome and celiac disease: a case of local vasculitis

Midaortic syndrome is a variety of aortic coarctation, located in the distal thoracic aorta, the abdominal aorta or both, involving the intestinal and renal vessels, usually presenting with renovascular arterial hypertension. Underlying conditions are thought to be Takayasus arteritis, von Recklinghausens disease, and connate hypoplasia. Celiac disease is an inflammation in the small intestine, triggered by an allergic reaction to gluten. It is known to be associated with a variety of other autoimmune disorders, e.g., dermatitis herpetiformis (Duhrings disease), insulin-dependent diabetes mellitus, and IgA nephropathy. We describe the case of a young woman who presented with claudication of the lower limbs, therapy-refractory arterial hypertension, and untreated celiac disease. We found a midaortic syndrome, characterized by severe stenosis of the infrarenal aorta, of both renal arteries (more pronounced on the right side) and of the inferior mesenteric artery. We assume that—after having excluded other possible pathogeneses—the underlying condition is a local vasculitis in the abdominal aorta and the renal and mesenteric arteries due to the chronic inflammation of untreated celiac disease. We performed a percutaneous transluminal angioplasty together with implantation of two stents into the infrarenal aorta and the right renal artery and started treating the celiac disease by dietary intervention. The patient is now under regular medical control and observation.     

Idiopathic pulmonary haemosiderosis with celiac disease (Lane–Hamilton syndrome) in an adult – a case report

Idiopathic pulmonary haemosiderosis (IPH) is a rare disorder of unknown cause characterised by haemoptysis, diffuse alveolar infiltrates and iron‐deficiency anaemia. IPH predominantly affects children; it is rare in adults, in whom it usually manifests before 30 years. In adults, course is protracted with a better prognosis, in contrast to children. Even rarer is the Lane–Hamilton syndrome, a condition in which IPH is associated with celiac disease. Only 15 cases of Lane–Hamilton syndrome affecting adults are reported in literature. Treatment of IPH is based on anecdotal case reports and case series because of its rare occurrence. High‐dose steroids reportedly reduce morbidity and mortality and delays or stops disease progression; more effectively in adults than children. In Lane–Hamilton syndrome, a gluten‐free diet for the celiac disease in addition to steroids for IPH, is the mainstay of therapy. The optimal treatment duration of steroid therapy is not known but anecdotally a more prolonged course results in improved outcome. We report a case of a young woman who presented with exertional dyspnoea, intermittent haemoptysis, severe anaemia and lung infiltrates but no gastrointestinal complaints. After extensive work‐up, she was diagnosed with Lane–Hamilton syndrome based on a diagnosis of IPH made from lung biopsy and concomitant celiac disease because of positive anti‐gliadin antibody and endomyosial antibody and jejunal biopsy. She was treated with sustained low‐dose steroid therapy for a year and a gluten‐free diet with resolution of her symptoms, anaemia and lung infiltrates. At 4 years of follow‐up, she remains stable, without recurrence.