scholarly journals A Case of Eosinophilic Esophagitis Accompanying Familial Mediterranean Fever

2017 ◽  
Vol 2017 ◽  
pp. 1-3
Author(s):  
Pejman Rohani ◽  
Mehri Najafi Sani ◽  
Mitra Ahmadi ◽  
Vahid Ziaee
Keyword(s):  
Abdominal Pain ◽  
Familial Mediterranean Fever ◽  
Eosinophilic Esophagitis ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
High Power Field ◽  
Case Presentation ◽  
History Of ◽  
Mediterranean Fever ◽  
Poor Weight Gain

Background. Eosinophilic esophagitis is an inflammatory condition where there is a dense infiltration of eosinophils typically exceeding fifteen cells per high power field. Familial Mediterranean fever is an autosomal recessive disorder characterized by brief, acute, and self-limited episodes of fever and polyserositis that recur at irregular intervals. Case Presentation. A three-year-and-nine-month-old Iranian girl was admitted to our center. The patient’s parents complained of a history of abdominal pain, poor appetite, and poor weight gain from 1.5 years ago and episodes of food impaction after starting solid foods. Eosinophilic esophagitis was diagnosed based on histology. Because of continuing abdominal pain after treatment of eosinophilic esophagitis, the episodic nature of disease, and the presence of fever with pain, screening for familial Mediterranean fever mutation was performed and the patient was found to be heterozygote for Mediterranean fever. Conclusion. We have reported a case of eosinophilic esophagitis coexisting with familial Mediterranean fever which has not been described previously.

scholarly journals Familial mediterranean fever: clinical case

2019 ◽  
Vol 10 (1) ◽  
pp. 101-107
Author(s):  
Roman S. Saykovskiy ◽  
S. V. Sadovnikova
Keyword(s):  
Familial Mediterranean Fever ◽  
Autosomal Recessive ◽  
Clinical Case ◽  
Autosomal Recessive Inheritance ◽  
Hereditary Disease ◽  
History Of Research ◽  
Mediterranean Origin ◽  
History Of ◽  
Mediterranean Fever ◽  
Methods Of Treatment

Background. Familial Mediterranean fever (FMF) is the brightest exponent of autoinflammatory diseases. FMF usually occurs to people of Mediterranean origin (Jews, Armenians, Azerbaijanis, Arabs, Kurds, Greeks, Turks and Italians). This is a hereditary disease with the autosomal recessive inheritance. Includes history of research, epidemiology FMF, variants of the disease course, methods of treatment. Clinical case description. A 61-year-old woman arrived complaining of weakness, fever, joint pain. First sign of disease showed at 20-years-old. When she came in: WBC 20.1–109/l, HGB 6.7 g/ml, ESR 60 mm/h, CRP 100 mg/l, CRP 202 μmol/L, UREA 19.7 mmol/L. Quantity of protein in one liter of urine 0.160 g. Ultrasonic signs of pyelectasis in both kidneys. The diagnosis was made on the basis of characteristic attacks of fever, polyarthritis, thoracalgia of Armenian nationality patient. The diagnosis was confirmed by the detection of amyloidosis and genetic data. Conclusion. Knowledge of the FMF clinical profile is important for differential diagnosis with many acute conditions, e.g. acute abdomen, myocardial infarction, pneumothorax, rheumatic diseases. It is important to remember that untimely diagnosis and improper treatment lead to the development of AA-amyloidosis (30–40%) with the outcome of renal failure.

scholarly journals Diffuse Skin Tightness in Familial Mediterranean Fever: A Case Report and Review of Literature

2015 ◽  
Vol 4 (4) ◽  
pp. 169-72
Author(s):  
Elham Behrangi ◽  
Nasrin Shayanfar ◽  
Hadi Mohagheghian Yaghoubi ◽  
Saman Aghabekloo ◽  
Zahra Azizian
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Systemic Sclerosis ◽  
Familial Mediterranean Fever ◽  
Physical Examination ◽  
Autosomal Recessive ◽  
Review Of Literature ◽  
Case Presentation ◽  
Tight Skin ◽  
Mediterranean Fever

Introduction: Familial Mediterranean Fever (FMF) is an autosomal recessive inherited disorder that has skin presentations like vasculitis and paniculitis. There has not been shown any association between systemic sclerosis and FMF in studies. Hence, we report a case of FMF with diffuse skin tightness. Case Presentation: An 18-year-old girl known as a case of FMF for 3 years presents to our department with tight skin since childhood. The stiffness of skin appeared when she was about 7 years old. In physical examination, tight skin with general induration in all surfaces of skin, sclerodactyly and beaked nose microstomia are noticed. The findings of all hematological, biochemical and pathological studies were normal. Conclusion: Finally, it may be concluded that FMF should be considered as a differential diagnosis in patients attending with skin tightness and the possible etiology is cytokines. [GMJ.2015;4(4):169-72]

scholarly journals Challenging diagnosis: coexistence of two rare diseases - familial mediterranean fever and loyez-dietz syndrome type 3

2020 ◽  
Vol 1 (2) ◽  
pp. 68-72
Author(s):  
Ninel REVENCO ◽  
Lucia ANDRIES ◽  
Victoria SACARA ◽  
Alexandr DORIF ◽  
Doina BARBA ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
Familial Mediterranean Fever ◽  
Clinical Manifestations ◽  
Recurrent Fever ◽  
Inherited Disorders ◽  
History Of ◽  
Attack Patterns ◽  
Mediterranean Fever ◽  
Smad 3 ◽  
Type 3

Introduction. Autoinflammatory diseases are a group of genetically inherited disorders and familial Mediterranean fever is the most common of this group. It is rare in other than Middle East populations. Clinical manifestations of FMF are attacks of fever usually shorter than 24 hours, associated with arthritis, pleuritic chest pain, and abdominal pain. Case presentation. A 15-year-old female patient was included in the study. She complained of recurrent episodes of fever associated with arthritis and abdominal pain. Moreover, the patient presented dysmorphic features like hyperthelorism, prognathia, scoliosis, pectus carinatum, and hypermobility syndrome. The laboratory exam revealed mutations in both MEVF and SMAD 3. Conclusions. An autoinflammatory disorder should be suspected in any patient who has a history of recurrent fever.  The attack patterns of FMF varies not just in different patients, but also in the same patient. Mainstay of treatment is colchicine that significantly improves the prognosis of patients with FMF.

scholarly journals Fiebre mediterránea familiar, una causa poco frecuente de dolor abdominal

2020 ◽  
Author(s):  
Leonardo Cuda ◽  
Federico Tielli ◽  
Daniela Orellana ◽  
Juan Pedro Díaz Vélez ◽  
Guadalupe Toledo ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
Familial Mediterranean Fever ◽  
Clinical Improvement ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Colchicine Treatment ◽  
Chronic Abdominal Pain ◽  
Important Complication ◽  
Responsible Gene ◽  
Mediterranean Fever

Familial Mediterranean Fever is an inherited autosomal recessive disease characterized by recurrent and brief episodes of fever with serositis, (peritoneum, pleural, pericardial) and abdominal pain. The MEFV is the responsible gene for the disease. Amyloidosis is the most important complication of this disease leading to the main cause of death in this case. Familial mediterranean fever occurs especially within Mediterranean ethnic groups and itis mainly manifested within the first two decades of life. The following is the case of a 32-year-old male patient who consults for chronic abdominal pain, that is partially controlled with mohammedan prayer and with NSAIDs, associated with fever, diarrhea, nausea, and vomiting. After semiological evaluation and interpretation of complementary studies, the Familial mediterranean fever diagnosis was reached, indicating Colchicine treatment with clinical improvement.

scholarly journals A case of sigmoid volvulus in an unexpected demographic

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Mohammad Saba ◽  
Joshua Rosenberg ◽  
Gregory Wu ◽  
Gudata Hinika
Keyword(s):  
Abdominal Pain ◽  
Severe Pain ◽  
Rare Case ◽  
Young Female ◽  
Sigmoid Volvulus ◽  
Case Presentation ◽  
Operative Complications ◽  
History Of ◽  
Male Sex ◽  
Emergent Laparotomy

Abstract Background A sigmoid volvulus occurs when a segment of the colon twists upon its mesentery. This infliction is associated with old age, multiple co-morbidities, and the male sex. We present a rare case of sigmoid volvulus that occurred in a healthy young female. Case presentation A 28-year-old female presented with a one week history of constipation and abdominal pain. Her symptoms suddenly worsened and became associated with vomiting and severe pain. A focused history taking and physical examination showed peritoneal signs that led to timely diagnostic imaging to be implemented. Computed tomography (CT) of the abdomen was consistent with sigmoid volvulus. Our patient underwent emergent laparotomy with a sigmoidectomy and recovered with no post-operative complications. Conclusion This case report emphasizes the importance of clinicians maintaining a sigmoid volvulus as a rare, yet important differential when approaching abdominal pain in young healthy patients.

scholarly journals Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Samina Yasin ◽  
Outi Makitie ◽  
Sadaf Naz
Keyword(s):  
Short Stature ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Loss Of Function ◽  
Case Presentation ◽  
Pathogenic Variants ◽  
Skeletal Malformations ◽  
Tarsal Bones ◽  
The Family ◽  
Heterozygous Carriers

Abstract Background Loss of function or gain of function variants of Filamin B (FLNB) cause recessive or dominant skeletal disorders respectively. Spondylocarpotarsal synostosis syndrome (SCT) is a rare autosomal recessive disorder characterized by short stature, fused vertebrae and fusion of carpal and tarsal bones. We present a novel FLNB homozygous pathogenic variant and present a carrier of the variant with short height. Case presentation We describe a family with five patients affected with skeletal malformations, short stature and vertebral deformities. Exome sequencing revealed a novel homozygous frameshift variant c.2911dupG p.(Ala971GlyfsTer122) in FLNB, segregating with the phenotype in the family. The variant was absent in public databases and 100 ethnically matched control chromosomes. One of the heterozygous carriers of the variant had short stature. Conclusion Our report expands the genetic spectrum of FLNB pathogenic variants. It also indicates a need to assess the heights of other carriers of FLNB recessive variants to explore a possible role in idiopathic short stature.

scholarly journals Amyand's hernia and acute appendicitis: Case presentation in Basic Hospital of Chone

2020 ◽  
Vol 4 (2) ◽  
pp. 19-23
Author(s):  
Orelvis Rodríguez Palmero ◽  
Liseidy Ordaz Marin ◽  
María Del Rosario Herrera Velázquez ◽  
Agustín Marcos García Andrade
Keyword(s):  
Abdominal Pain ◽  
Inguinal Hernia ◽  
Acute Appendicitis ◽  
Physical Examination ◽  
Iliac Fossa ◽  
Amyand’S Hernia ◽  
Case Presentation ◽  
The North ◽  
History Of ◽  
The Right

Present the case of a 66-year-old male patient, with a history of right inguinal hernia, who was referred to the emergency room at the IESS de Chone Basic Hospital in the north of the Manabí province, Ecuador, with symptoms of Abdominal pain of more than 24 hours of evolution located in the right iliac fossa and inguinal region on the same side, in the physical examination the hernia was impossible to reduce, so he was taken to the operating room, in the intervention the cecal appendix was found swollen within the hernial sac, a condition known as Amyand's hernia.

scholarly journals Molecular genetic verification of isolated mineralocorticoid deficiency due to aldosterone synthase deficiency

2009 ◽  
Vol 55 (1) ◽  
pp. 28-30
Author(s):  
N Yu Kalinchenko ◽  
N A Zubkova ◽  
A N Tyulpakov
Keyword(s):  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Autosomal Recessive Disorder ◽  
Adrenal Hyperplasia ◽  
Genetic Studies ◽  
Aldosterone Synthase ◽  
Salt Wasting ◽  
History Of ◽  
17 Hydroxyprogesterone ◽  
Aldosterone Synthase Deficiency

Isolated mineralocorticoid deficiency is a rare hereditary autosomal recessive disorder that is characterized by salt wasting and that has the severest manifestations in infants. This paper is the first in the Russian literature to describe cases of isolated aldosterone deficiency. In both cases, the patients were monitored and treated for misdiagnosed congenital adrenal hyperplasia; however, the permanently low level of 17-hydroxyprogesterone could put in doubt the diagnosis and suspect isolated mineralocorticoid deficiency, by keeping in mind a history of salt wasting. By using the presented cases as an example, the authors give an algorithm for the examination and differential diagnosis of this condition and other diseases that have the similar clinical picture. Aldosterone synthase deficiency in patients was verified by molecular genetic studies - there were mutations in the CYP112 gene.

224 A RETROSPECTIVE CASE–CONTROL STUDY ASSESSING THE CLINICAL AND ENDOSCOPIC CHARACTERISTICS OF EOSINOPHILIC ESOPHAGITIS IN JAPAN

2021 ◽  
Vol 34 (Supplement_1) ◽  
Author(s):  
Kazumi Imamura ◽  
Ken Haruma ◽  
Hiroshi Matsumoto ◽  
Yasuhiko Maruyama ◽  
Maki Ayaki ◽  
...  
Keyword(s):  
Eosinophilic Esophagitis ◽  
Japanese Population ◽  
Case Control Study ◽  
High Power Field ◽  
Retrospective Case ◽  
Male Predominance ◽  
Endoscopic Findings ◽  
History Of ◽  
Endoscopic Characteristics ◽  
Control Study

Abstract   Eosinophilic esophagitis (EoE) is an allergy-associated clinicopathologic condition gaining an increasing amount of recognition in various areas of the world. While the clinical definition and characteristics may differ depending on country and region, sufficient studies have not yet been performed in Japan. To assess the prevalence of EoE among the Japanese population and the clinical features and the prognosis associated with the disease. Methods Medical data from January 2012 to October 2018 was gathered from nine Japanese clinical institutes. EoE, defined as more than 15 intraepithelial eosinophils per high power field, was determined based on esophageal biopsies. Clinical and endoscopic patterns in the cases with EoE were investigated and compared with 186 age- and sex-matched controls. We also analyzed the treatment and prognosis of an individual patient. Results From 130,013 upper endoscopic examinations, 66 cases of EoE were identified (0.051%; mean age: 45.2 years (range 7-79); 45 males). Patients with EoE had more symptoms (69.7 vs. 10.8%; P < 0.01) such as dysphagia and food impaction, and more allergies (63.6 vs. 23.7%; P < 0.01) compared with the controls. The prevalence of atrophic gastritis was lower in EoE patients than in the controls (20.0% vs. 33.3%). In 55 patients analyzed, 32 patients (78.0%) received proton pump inhibitors with or without swallowed topical corticosteroids. During the follw-up period (mean 23 months), no patient got worse regarding clinical and endoscopic findings. Conclusion The prevalence of EoE in the Japanese population was 0.051% which was comparable with previous reports in Japan. Male predominance, a history of allergies, and the absence of Helicobacter pylori infection might be risk factors for EoE. Our study also indicated that the prognosis of EoE might be relatively good in Japanese populations.

Abetalipoproteinemia Presenting as Severe Vitamin K Deficiency

PEDIATRICS ◽  
1980 ◽  
Vol 65 (1) ◽  
pp. 161-163
Author(s):  
Fernan M. Caballero ◽  
George R. Buchanan
Keyword(s):  
Vitamin K ◽  
Autosomal Recessive ◽  
Neonatal Period ◽  
Chronic Diarrhea ◽  
Autosomal Recessive Disorder ◽  
Vitamin K Deficiency ◽  
History Of ◽  
K Deficiency ◽  
First Time ◽  
To Receive

Vitamin K deficiency has occasionally been observed in infants after the immediate neonatal period when one or more of the following features is present: diet consisting entirely of breast milk, failure to receive prophylactic vitamin K shortly after birth, therapy with broad-spectrum antibiotics, or chronic diarrhea accompanying malabsorption due to cystic fibrosis or to various acquired causes.1-7 In this report we describe for the first time an infant with the uncommon autosomal recessive disorder abetalipoproteinemia whose major presenting manifestation in early infancy was hemorrhage due to vitamin K deficiency. CASE REPORT A 6-week-old baby was brought in for evaluation because of a two- to three-week history of easy bruising.

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