Unusual Initial Presentation Of Celiac Disease in Children: Three Case Reports

Abstract Collagenous sprue is a severe malabsorptive disorder, histologically characterized by small intestinal villous and crypt atrophy, and a subepithelial collagen deposit, thicker than 12 µm, that entraps lamina propria cellular elements. Collagenous sprue is a rare disease entity, with only about 60 sporadic cases reported worldwide since it was first described in 1947. Its exact etiology is still under investigation, and its relationship with classic celiac disease and other refractory, spruelike intestinal disorders remains controversial. Two larger-scale studies, in 2009, brought new insights into this elusive, yet emerging, topic. Here, we present a review of the literature on the possible etiology of collagenous sprue, its proposed links to classic celiac disease and to refractory sprue, and its clinical, biochemical, histologic, and molecular features. To our knowledge, all case reports on collagenous sprue in the medical literature to date are summarized.

Download Full-text

Intravascular Lymphoma in Patient With Celiac Disease With Multi Glandular Involvement

Journal of the Endocrine Society ◽

10.1210/jendso/bvab048.1918 ◽

2021 ◽

Vol 5 (Supplement_1) ◽

pp. A938-A939

Author(s):

Mustafa Alam ◽

Mohamad Hosam Horani

Keyword(s):

Celiac Disease ◽

B Cell ◽

Cell Lymphoma ◽

Case Reports ◽

B Cell Lymphoma ◽

Diagnostic Challenge ◽

Pituitary Microadenoma ◽

Non Hodgkin Lymphoma ◽

Large B Cell Lymphoma ◽

History Of

Abstract Case Presentation: The patient is a 60 year old male with a past medical history of celiac disease, paroxysmal Afib, iron deficiency, and CAD who presented with lightheadedness, dizziness, and fatigue. Notable workup revealed that the patient had Afib with RVR, a TSH of 0.189, Free t4 0.51an LDH of 2726, hemoglobin of 8.7, AST of 155, ALT of 19, WBC of 4.5, and serum iron of 20. The patient’s cardizem dose was adjusted and repeat transthoracic echocardiogram was unremarkable compared to history. The patient presented again with complaints of abdominal distension, postural dizziness, occasional night sweats, and fevers. Repeat workups revealed pancytopenia, proteinuria, hypotension, and anasarca most pronounced in the lower extremity and scrotum. Ultimately, a kidney biopsy revealed an intravascular B cell non-Hodgkin lymphoma (IVBCL). Notable repeat labs include a CRP of 44 and a failed ACTH stimulation test. A brain MRI revealed a 6mm pituitary microadenoma. The patient placed on an R-CHOP regiment and is scheduled for repeat MRI to rule out pituitary involvement. Discussion: IVBCL’s are a rare form of diffuse B cell lymphoma and remain a diagnostic challenge due to the variety of involved systems including skin, CNS, and endocrine. IVBCL is also known to not produce a mass or lymphadenopathy. Celiac disease is a known risk factor for non-Hodgkin’s lymphoma. A literature search reveals a few case reports with common themes of increased LDH and inflammatory markers, anemia, and hepatic and renal dysfunction. Postural hypotension can also be a presenting symptom due to IVBCL’s ability to infiltrate neurovascular tissue to cause autonomic neuropathy. However, in this case, the patient’s history of primary adrenal insufficiency makes this unlikely. Hypothyroidism secondary to pituitary and thyroid involvement was suspected due to TSH level suppressed enough for central hypothyroidism. Repeated MRI showed resolution of Pituitary Microadenoma post Chemo therapy. Sylvain Raoul Simeni Njonnou, Bruno Couturier, Yannick Gombeir, Sylvain Verbanck, France Devuyst, Georges El Hachem, Ivan Theate, Anne-Laure Trepant, Virginie De Wilde, Frédéric-Alain Vandergheynst, “Pituitary Gland and Neurological Involvement in a Case of Hemophagocytic Syndrome Revealing an Intravascular Large B-Cell Lymphoma”, Case Reports in Hematology, vol. 2019, 6 pages, 2019. https://doi.org/10.1155/2019/9625075 Catassi C, Fabiani E, Corrao G, et al. Risk of Non-Hodgkin Lymphoma in Celiac Disease. JAMA. 2002;287(11):1413 Khan MS, McCubbin M, Nand S. Intravascular Large B-Cell Lymphoma: A Difficult Diagnostic Challenge. J Investig Med High Impact Case Rep. 2014 Mar 6;2(1):2324709614526702. Pearce C, Hope S, Butchart J. Intravascular lymphoma presenting with postural hypotension. BMJ Case Rep. Published 2018 Jan 29.

Download Full-text

Leukemia Cutis: A Systematic Review

Blood ◽

10.1182/blood-2020-134860 ◽

2020 ◽

Vol 136 (Supplement 1) ◽

pp. 1-1

Author(s):

Dawood Findakly

Keyword(s):

Treatment Modality ◽

Case Reports ◽

Age Groups ◽

Lymphocytic Leukemia ◽

Initial Presentation ◽

Patient Specific ◽

Leukemia Diagnosis ◽

Leukemia Cutis ◽

Reported Data

Leukemia cutis (LC) is a rare cutaneous infiltration of extramedullary neoplastic hematopoietic cells with a paucity of data on their management, given that most cases are from individual case reports or case series, which further impact outcomes. This review aims to investigate the clinical characteristics of LC and highlight our cytogenetic findings that could contribute to our growing understanding and help reshape the prognosis of this rare but deadly condition. Patients and methods PubMed, Medline, ScienceDirect, and Scopus databases searched for "Leukemia Cutis" case reports from January 2000 to July 2020 pooled with a case from our institution. Results We included 184 biopsy-proven LC cases. Male: female ratio was 1.49:1. Mean age at diagnosis (± SD) was 48.9 (±25.9) years. Regarding age groups, 17 (9.2%), 16 (8.7%), 14 (7.6%), 12 (6.5%), 16 (8.7%), 29 (15.8%), and 80 (43.5%) patients were noted in the age groups of <1, 1-19, 19-30, 31-40, 41-50, 51-60, and >60 years, respectively. The demographics and clinical features of LC are summarized in Table 1. The presenting finding was LC in 66 (35.8%) cases, with an average time-to-leukemia diagnosis of 8.1 months (range, five days-72 months), and aleukemic LC (ALC) in 17 (9.2%) cases. Mean leukemia-to-LC diagnosis interval was 25.6 (range, 0-180 months). Acute myeloblastic leukemia (AML) was the most common type, found in 82 (44.5%) cases, out of which, M5, M4, and M2 variants were predominant at 21.9%, 9.7%, and 9.7%, respectively. Sixteen (8.7%) cases were secondary to acute lymphocytic leukemia (ALL), out of which 56.2% were B-cell lineage. Eleven (5.9%) cases were secondary to chronic lymphocytic leukemia (CLL). Other less common types were chronic myelomonocytic leukemia (CMML), myelodysplastic syndromes (MDS), chronic myeloid leukemia (CML), and acute promyelocytic leukemia (APL) in 9 (4.9%), 7 (3.8%), 5 (2.7%), and 5 (2.7%), respectively. The most common treatment modality was chemotherapy in 109/133 (81.9%) cases with the available data, out of which, 80 (73.4%) had chemotherapy alone, 16 (14.7%) had chemotherapy plus stem cell transplantation (SCT), 8 (7.3%) had chemotherapy plus radiotherapy, 3 (2.8%) had chemotherapy plus surgery and radiotherapy, 1 (0.9%) had chemotherapy plus radiation and SCT, and 1 (0.9%) had chemotherapy plus surgery. Mean duration of follow-up was 11 months (range, 1 day-100 months). In terms of outcomes, 61 (33.15%) patients were alive upon follow-up, out of which, 19 (31.1%) in remission, 18 (29.5%) disease-free, 17 (27.9%) with persistent disease, 2 (3.3%) had a recurrence, and 5 (8.2%) outcome not mentioned. Moreover, 91 (49.46%) patients died from disease. For the reported data, the average interval from leukemia diagnosis to death was 4.4 months (range, 3 days-15 months) for AML and 7.6 months (range, four days-25 months) for ALL (Table 2). Interestingly, at the time of our patient's LC diagnosis in our institution, cytogenic analysis revealed a novel inv(11)(p15q23) chromosomal aberration that herald MDS-to-AML transformation. Discussion In this review, several findings are noteworthy. First, males were more commonly affected. Second, 109 (59.2%) patients were older than 50 years of age. Third, LC noted as the initial presentation of systemic disease in more than a third of patients, whereas ALC was the initial presentation in only around 9% of patients. Fourth, multiple cutaneous lesions were more prevalent, with nodules being the most common presentation. Fifth, AML was the most predominant type overall, found in almost 45% of cases, followed by ALL, CLL, CMML, and other less common types. Sixth, chemotherapy was the most common treatment modality overall in more than 80% of patients with reported data. Seventh, almost half of patients died from the disease or complications related to it. Distinctly, very few studies in the literature reported this unique AML association with chromosome 11 aberrations. Conclusion LC is relatively rare and has a dismal prognosis. It most likely presents as the initial manifestation of leukemia, and physicians could easily misdiagnose this condition if managed without a biopsy. In this study, we intend to promote early recognition among physicians and highlight our unique cytogenetic findings. This could support future endeavors and develop novel patient-specific therapeutic strategies that exploit chromosomal aberrations amidst possible leukemogenic mechanisms. Disclosures No relevant conflicts of interest to declare.

Download Full-text

A109 CELIAC DISEASE IS A RARE CAUSE OF BENIGN DUODENAL STRICTURE

Journal of the Canadian Association of Gastroenterology ◽

10.1093/jcag/gwz047.108 ◽

2020 ◽

Vol 3 (Supplement_1) ◽

pp. 126-127

Author(s):

I Balubaid ◽

N Khanna

Keyword(s):

Weight Loss ◽

Celiac Disease ◽

Case Reports ◽

Balloon Dilation ◽

Gluten Free Diet ◽

Gluten Free ◽

Early Satiety ◽

Ulcer Disease ◽

Duodenal Stricture ◽

H Pylori

Abstract Background Benign duodenal stricture is an uncommon problem encountered by gastroenterologists. The most common cause is peptic ulcer disease (PUD). With the diagnosis and eradication of H. Pylori, early diagnosis of PUD and the use of PPIs to treat upper gastrointestinal inflammation, the incidence of benign duodenal stricture has dramatically decreased. Patients with duodenal stricture may present with early satiety, nausea, vomiting and weight loss. We present the case of a man with a refractory web-like stricture in the second part of the duodenum (D2) caused by Celiac disease. Aims To describe a rare endoscopic finding in a patient with Celiac disease Methods Case report with literature review Results We present a case of a 64 year old male was referred for consideration of duodenal stenting of a refractory stricture in the second part of the duodenum D2. The patient had a 1 year history of abdominal pain, early satiety and weight loss (10 lbs). He also reported intermittent episodes of diarrhea. Investigations included a CT scan of the abdomen which showed a stricture at the level of proximal D2 described as a “duodenal band”. Previous attempts at balloon dilation had not resulted in prolonged symptomatic or endoscopic improvement. Testing for H. Pylori was negative and he did not use NSAIDs. Upper endoscopy was performed to assess the stricture prior to consideration of stenting. This showed a tight web-like stricture in proximal D2. The stricture was balloon dilated up to 16.5 mm, enabling the endoscope to pass beyond it. The mucosa in D2 was atrophic with flattening of the folds and scalloping. There was no inflammation seen. Biopsies from D2 revealed moderate villous blunting and intraepithelial lymphocytosis. Celiac serology testing was abnormal, with an anti-tTG Ab level of 32 RU/ml which confirmed the diagnosis of Celiac disease. The balloon dilation and gluten-free diet resulted in resolution of his symptoms. Follow up endoscopy revealed normalization of his duodenal folds and biopsies. In addition, anti-tTG Ab level was normalized. Although stricture improved with prolonged patency, he still has mild recurrence of his stricture requiring balloon dilation on an annual basis. Conclusions This case describes a very uncommon complication of Celiac disease. The likely pathophysiology involves inflammation and potentially ulceration from Celiac disease, resulting in a benign stricture. There have been a few case reports describing duodenal strictures as a complication of Celiac disease. Treatment involves a gluten-free diet and endoscopic therapy. More severe cases of obstruction would likely require surgical intervention. In our case, the gluten-free diet and balloon dilation were successful and duodenal stenting was not necessary. Given the possibility of Celiac disease as a cause of duodenal stricture, it would be reasonable to biopsy D2 and check anti-tTG Ab in cases of duodenal stricture. Funding Agencies None

Download Full-text

Abnormal Liver Tests as an Initial Presentation of Celiac Disease

Digestive Diseases and Sciences ◽

10.1007/s10620-006-9149-6 ◽

2007 ◽

Vol 52 (11) ◽

pp. 3016-3018 ◽

Cited By ~ 2

Author(s):

Michael Sifford ◽

Alvaro Koch ◽

Eun Lee ◽

Luis R. Peña

Keyword(s):

Celiac Disease ◽

Initial Presentation ◽

Liver Tests

Download Full-text

Celiac Disease and Sensitization to Wheat, Rye, and Barley: Should We Be Concerned?

International Archives of Allergy and Immunology ◽

10.1159/000512108 ◽

2020 ◽

pp. 1-7

Author(s):

Camila Marques de Valois Lanzarin ◽

Natalia de Oliveira e Silva ◽

Maissara Obara Venturieri ◽

Dirceu Solé ◽

Ricardo Palmero Oliveira ◽

...

Keyword(s):

Celiac Disease ◽

Small Bowel ◽

Case Reports ◽

Serum Levels ◽

Specific Ige ◽

Age At Diagnosis ◽

Gluten Free ◽

Small Bowel Biopsy ◽

History Of ◽

Ige Mediated

Background: Concomitance of celiac disease (CD) and IgE-mediated wheat allergy is described in some case reports. The objective was to evaluate the frequency of sensitization to wheat, rye, barley, and malt in children and adolescents with CD. Methods: Measurement of serum levels of specific IgE to wheat, rye, barley, and malt (ImmunoCAP; sensitization IgE ≥0.35 kUA/L) in CD patients followed in specialized clinics to verify allergy history, general characteristics, small bowel biopsy characteristics, compliance with gluten-free diet (GFD), and occurrence of symptoms in case of noncompliance. Results: We evaluated 74 patients; the median of age and age at diagnosis of CD were 8.6 years (5.0–12.8) and 3.6 years (1.6–7.0), respectively. Median time of GFD was 3.5 years (1.4–5.8). History of asthma occurred in 17.3% of subjects, allergic rhinitis in 13.5%, and AD in 5.4%. Frequency of sensitization was 4% for wheat, 10.8% for rye, 5.4% for barley, and 2.7% for malt. There was no association between wheat sensitization and age at diagnosis, time of GFD, small bowel biopsy characteristics, allergy history, and gluten consumption. There was no relationship between sensitization to wheat and occurrence of immediate symptoms when not complying with GFD. Conclusion: In conclusion, the frequency of sensitization to wheat, rye, barley, and malt in CD patients was 4, 10.8, 5.4, and 2.7%, respectively. Therefore, to ensure that cutaneous and respiratory contact with wheat is safe, we advise patients with CD to investigate their sensitivity to wheat, rye, and barley because not all patients with CD are allergic to these cereals.

Download Full-text

Cardiac Tamponade as Initial Presentation of Hodgkin Lymphoma

Journal of Clinical Imaging Science ◽

10.4103/2156-7514.172971 ◽

2015 ◽

Vol 5 ◽

pp. 67 ◽

Cited By ~ 4

Author(s):

Adrija Hajra ◽

Dhrubajyoti Bandyopadhyay ◽

Manas Layek ◽

Sabyasachi Mukhopadhyay

Keyword(s):

Pericardial Effusion ◽

Malignant Lymphoma ◽

Cardiac Tamponade ◽

Hodgkin Lymphoma ◽

Male Patient ◽

Cardiac Involvement ◽

Case Reports ◽

Initial Presentation ◽

Classical Type

Cardiac involvement in malignant lymphoma is one of the least investigated subjects. Pericardial effusion is rarely symptomatic in patients of Hodgkin lymphoma (HL). Few case reports are available in the literature. There are case reports of diagnosed HL patients presenting with pericardial effusion. HL patients who present with recurrent episodes of pericardial effusion have also been reported. Pericardial effusion has also been reported in cases of non HL. However, pericardial effusion leading to cardiac tamponade as an initial presentation of HL is extremely rare. Very few such cases are there in the literature. Here, we present a case of a 26-year-old male patient who presented with cardiac tamponade and in due course was found to be a case of classical type of HL. This case is interesting because of its presentation.

Download Full-text

Rotavirus gastroenteritis as a precipitating factor of celiac crisis in infancy - case reports and review of literature

Srpski arhiv za celokupno lekarstvo ◽

10.2298/sarh200802101l ◽

2020 ◽

pp. 101-101

Author(s):

Zoran Lekovic ◽

Vladimir Radlovic ◽

Nevena Jovicic ◽

Goran Djuricic ◽

Marija Mladenovic ◽

...

Keyword(s):

Celiac Disease ◽

Villous Atrophy ◽

Case Reports ◽

Failure To Thrive ◽

Complete Recovery ◽

Latex Agglutination ◽

Watery Diarrhea ◽

Rapid Improvement ◽

Rotavirus Gastroenteritis ◽

Celiac Crisis

Introduction. Celiac crisis is a rare and life-threatening complication of celiac disease. Although it occurs in all ages, the most common affects children within the first two years. Outline of cases. We report three infants (two female, one male, age range 9-12) with celiac crises as an initial presentation of celiac disease precipitated with rotavirus gastroenteritis. Celiac crisis was preceded by failure to thrive caused by anorexia, occasional vomiting and frequent abundant stools for 4-8 weeks, and 1-2 days before admission with fever, frequent vomiting and profuse watery diarrhea. They were admitted in a very severe general condition, severely dehydrated, markedly malnourished, with an enormously distended abdomen, edema of the lower legs and feet, and perianal erythema. After correction of dehydration and hypoalbuminemia, they were placed on a gluten- and disaccharide-free diet and within the first 2 weeks on additional parenteral nutrition. The applied therapeutic measures resulted in stabilization and further rapid improvement of the patient's condition. In all three patients the latex agglutination test for rotavirus was positive, IgA anti-TTG antibodies elevated (58.6 to 78 U/ml) and all three were homozygous carriers of the HLA DQ2 gene. Enterobiopsy was performed two weeks after admission and total villous atrophy (Marsh IIIc) was registered in all three patients. In the further course, on a strict gluten-free diet, the complete recovery of the patient followed. Conclusion. Our experience indicates that rotavirus gastroenteritis in timely unrecognized classical celiac disease in infants can lead to celiac crisis.

Download Full-text