Novel deleterious sequence change in the NLRP12 gene in a child with autoinflammatory syndrome, joint hypermobility and cutis laxa from India.

An otherwise healthy male child of 9 years presented with paroxysmal fever and diffuse abdominal pain along with loss of appetite and nausea lasting for 3-4days every 4-6 weeks for last 2 years. He also has stretchable skin and hypermobile joint which he inherited from his mother who never suffered any paroxysmal attack of the kind. Work up for acute intermittent porphyria, lead poisoning and familial mediterranean fever was negative. A novel harmful sequence change in NLRP12 gene was detected and a diagnosis of NLRP12 associated autoinflammatory syndrome was made. This sequence change with disease has not yet been reported in the literature and is the first such case of NLRP12 related autoinflammatory syndrome from India.

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Secret Underlying Unexplained Abdominal Pain, Neurological Symptoms and Intermittent Hypertension: Acute Intermittent Porphyria

BANTAO Journal ◽

10.1515/bj-2017-0009 ◽

2017 ◽

Vol 15 (1) ◽

pp. 35-38

Author(s):

Andac Komac ◽

Elif Gram ◽

Feray Gulec ◽

Harun Akar

Keyword(s):

Abdominal Pain ◽

Aminolevulinic Acid ◽

Abdominal Cavity ◽

Gene Mutations ◽

Acute Intermittent Porphyria ◽

Recurrent Abdominal Pain ◽

Neurological Symptoms ◽

Heterozygous Mutation ◽

Abdominal Organs ◽

Mediterranean Fever

AbstractA 21-year-old female patient with abdominal pain, vomiting and constipation was admitted to the hospital with the possible diagnosis of diabetic ketoacidosis. Due to increased abdominal pain and constipation the patient underwent a surgery with the diagnosis of ileus. However, no pathological findings were found in the abdominal organs apart from serous fluid in the abdominal cavity. The patient became hypertensive, tachycardic and had an episode of seizures postoperatively. Neurological manifestations with unexplained abdominal pain indicated a diagnosis of acute intermittent porphyria (AIP). Acute intermittent porphyria diagnosis is based on elevated urinary δ-aminolevulinic acid (ALA) and porphobilinogen (PBG) levels as well as hydroxymethylbilane synthase (HMBS) IVS13-2 A>G heterozygous mutation. Familial Mediterranean Fever (FMF) gene mutations were not confirmed. Porphyria should be considered in the differential diagnosis of patients with recurrent abdominal pain, neurological symptoms and lack of FMF gene polymorphism.

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Rapunzel syndrome trichobezoar in a twelve year old girl: a case report

International Surgery Journal ◽

10.18203/2349-2902.isj20194081 ◽

2019 ◽

Vol 6 (9) ◽

pp. 3383

Author(s):

Dharmendra Kumar Pipal ◽

Vibha Pipal ◽

Rajendra Pipal ◽

Seema Yadav ◽

Saurabh Kothari

Keyword(s):

Differential Diagnosis ◽

Abdominal Pain ◽

Abdominal Mass ◽

Treatment Options ◽

Rapunzel Syndrome ◽

Diffuse Abdominal Pain ◽

Female Patients ◽

History Of ◽

Loss Of Appetite ◽

Ileocaecal Junction

A bezoar refers to a mass of undigestible foreign material found in the gastrointestinal tract, mainly stomach. The second most common bezoar is the trichobezoar, which usually occurs in the young psychiatric female patients with history of trichotillomania and trichophagia. A 12-year-old female psychiatric patient came with complains of diffuse abdominal pain, vomiting, fever, and constipation. Ultrasonography and CT scan were done, which suggested trichobezoar. Thus, trichobezoar should be considered as differential diagnosis of abdominal pain in young psychiatric female patients. In the literature several treatment options are proposed, including removal by conventional laparotomy, laparoscopy and endoscopy. According to our experience and in line with the published results, conventional laparotomy is still the treatment of choice. In addition, psychiatric consultation is necessary to prevent relapses. We here report a case of 12 years old girl presented with complain of vomiting, pain and lump abdomen, loss of appetite and on laprotomy a large, approximately 156 cm trichobezoar was removed which was extending from stomach to ileocaecal junction. Trichobezoar, an underdiagnosed entity, has to be considered in the differential diagnosis of abdominal pain and a non-tender abdominal mass even in young children.

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Late Acute Intermittent Porphyria Attack In A Patient With Type 2 Diabetes

Romanian Journal of Diabetes Nutrition and Metabolic Diseases ◽

10.1515/rjdnmd-2015-0016 ◽

2015 ◽

Vol 22 (2) ◽

pp. 125-131

Author(s):

Nicoleta Toma ◽

Maria M. Stancu ◽

Octavian Savu

Keyword(s):

Type 2 Diabetes ◽

Abdominal Pain ◽

Alcohol Consumption ◽

Acute Intermittent Porphyria ◽

Fold Increase ◽

Full Blood Count ◽

Diffuse Abdominal Pain ◽

Disease Occurrence ◽

History Of

AbstractBackground. Acute intermittent porphyria (AIP) is a hereditary metabolic aberration resulting from a partial defect in the activity of the enzyme porphobilinogen deaminase (PBDG) during the course of haeme synthesis. Diabetic metabolism may attenuate the episodes of porphyria related symptoms.Case report. Our subject (male; age 75) was hospitalized one week after onset of diffuse abdominal pain and constipation and overt type 2 diabetes mellitus (DM). The patient’s long history of alcohol intake with acute alcohol consumption 12 days before admission, in the presence of abdominal pain with spectacular remission after oral administration of 5% glucose solution, accompanied by a 2.5 fold increase of urinary porphobilinogen with normal values for porphyrins and urinary lead, and normal full blood count establishes the diagnosis of AIP.Conclusion We describe a case of AIP probably triggered by acute alcohol consumption, with neurovisceral dominant clinical picture mimicking an acute abdomen. Late disease occurrence as first acute episode at older age accompanied by overt type 2 DM, suggests a latent type of AIP in our patient. The appropriate recognition of latent AIP cases in proband’s offspring prevents unnecessary blind surgery when repeated episodes of unexplained abdominal pain occur.

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Hydatid Disease Simulating Acute Abdomen: A Case Report and Brief Review of the Literature

Case Reports in Gastrointestinal Medicine ◽

10.1155/2012/387102 ◽

2012 ◽

Vol 2012 ◽

pp. 1-3 ◽

Cited By ~ 1

Author(s):

Georgios Lianos ◽

Georgios Baltogiannis ◽

Avrilios Lazaros ◽

Konstantinos Vlachos

Keyword(s):

Abdominal Pain ◽

Case Report ◽

Hydatid Disease ◽

Acute Abdominal Pain ◽

Abdominal Distension ◽

The Body ◽

Parasitic Disease ◽

Review Of The Literature ◽

Diffuse Abdominal Pain ◽

Operating Surgeon

Introduction. Hydatid disease is caused by the tapewormEchinococcus granulosusand is still a matter of public health in many regions of the world, where it is an endemic parasitic disease. Although the liver is the most involved organ, hydatidosis can be found anywhere in the human body. Rare forms of location may lead to diagnostic and therapeutic dilemmas.Case Report. Herein we report a rare case of acute abdominal pain and progressively increasing abdominal distension due to abdominal and multiple splenic echinococcosis in a 72-year-old Caucasian male. We also provide a brief review of the literature.Conclusion. Although hydatid disease is found most often in the liver and lungs, rarely any organ of the body can be involved by this zoonosis. Though rare, the possibility of unusual location of echinococcosis must always be considered by the operating surgeon, when dealing with diffuse abdominal pain in endemic areas, because any misinterpretation may result in unfavorable outcomes.

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A Rare Malignant Tumor of Gall Bladder

Clinical Pathology & Research Journal ◽

10.23880/cprj-16000127 ◽

2021 ◽

Vol 5 (1) ◽

Author(s):

Lakshmi Agrawal

Keyword(s):

Abdominal Pain ◽

Gall Bladder ◽

Malignant Tumor ◽

Normal Limits ◽

Loss Of Appetite

A 35 yrs old lady presented with abdominal pain and loss of appetite. LFT, RFT and other Lab investigation were within normal limits.

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An unusual case of pediatric abdominal pain

CJEM ◽

10.2310/8000.2011.110163 ◽

2011 ◽

Vol 13 (02) ◽

pp. 133-138 ◽

Cited By ~ 3

Author(s):

Lars P. Bjoernsen ◽

M. Bruce Lindsay

Keyword(s):

Abdominal Pain ◽

Colonic Obstruction ◽

Exploratory Laparotomy ◽

Symptomatic Treatment ◽

Systematic Evaluation ◽

White Female ◽

Symptomatic Therapy ◽

Regional Lymph Nodes ◽

Diffuse Abdominal Pain ◽

Gastrografin Enema

ABSTRACTChronic and recurrent abdominal pains are common complaints in children and adolescents, but the evaluation in the emergency department (ED) can be challenging. We present a rare yet serious case of a 17-year-old white female who presented to the ED with a 2-day history of diffuse abdominal pain, nausea, and intractable vomiting. Abdominal examination and imaging, including computed tomography (CT), were negative during an episode 6 weeks previously. This was her fifth similar episode in a 2-month period, and she had been seen at three different hospitals and admitted on each occasion. Three days prior to presentation to our ED, she was seen at a gastroenterology clinic and diagnosed with irritable bowel syndrome and an ovarian cyst. Symptomatic therapy during the current presentation, with intravenous fluids, antiemetics, and parenteral narcotics, failed to alleviate her abdominal pain and vomiting. Emergent CT evaluation revealed a high-grade colonic obstruction with focal circumferential narrowing in the transverse colon and a lower gastrointestinal follow-through radiograph with Gastrografin enema showed a classic “apple-core” lesion. Colonic adenocarcinoma with positive regional lymph nodes was found during emergent exploratory laparotomy. Pediatric patients with recurrent, episodic abdominal pain should undergo systematic evaluation and symptomatic treatment. A previous negative workup should not dissuade emergency physicians from proceeding with a systematic and thorough evaluation of the pediatric patient presenting with abdominal pain and vomiting.

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Effect of Menstrual Cycle on Acute Intermittent Porphyria

Child Neurology Open ◽

10.1177/2329048x17736170 ◽

2017 ◽

Vol 4 ◽

pp. 2329048X1773617 ◽

Cited By ~ 4

Author(s):

V. R. Souza Júnior ◽

V. M. V. Lemos ◽

I. M. L. Feitosa ◽

R. Florencio ◽

C. W. B. Correia ◽

...

Keyword(s):

Abdominal Pain ◽

Acute Abdominal Pain ◽

Acute Intermittent Porphyria ◽

Pelvic Magnetic Resonance Imaging ◽

Motor Weakness ◽

Irrational Behavior ◽

Emergency Units ◽

Video Laparoscopy ◽

Magnetic Resonance Imaging Mri ◽

Histopathological Lesion

A 16-year-old female who was attended as an outpatient reported localized, acute abdominal pain with vomiting, symmetrical motor weakness, and burning sensation in both arms and legs. Her medical history showed irrational behavior, repeated admissions at the emergency units of many other reference hospitals, where she had been investigated for celiac disease and treated with analgesics for pain events. Her clinical condition remained unchanged despite the use of many oral analgesics. In those admissions, she showed dysautonomia, vomiting, and abdominal pain. Diagnosis investigation disclosed a notable serum hyponatremia (133.7 mEq/L). She was referred for endoscopy and the histopathological lesion of the antrum in the stomach did not show neoplastic lesions. Colonoscopy, pelvic magnetic resonance imaging (MRI), total abdominal computed tomography, and video laparoscopy were without significant abnormalities. Suspicion of acute intermittent porphyria was confirmed by quantitative urine porphobilinogen-level tests and genetic analysis. Patient was successfully treated with intravenous infusion of glucose and hemin therapy.

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Mysterious Gelly Belly: a Case Report of Pseudomyxoma Peritonei and Literature Review

Journal of Gastroenterology & Digestive Systems ◽

10.33140/jgds.04.02.02 ◽

2020 ◽

Vol 4 (2) ◽

Keyword(s):

Abdominal Pain ◽

Case Report ◽

Literature Review ◽

Pseudomyxoma Peritonei ◽

Clinical Condition ◽

Imaging Techniques ◽

Abdominal Distension ◽

Exploratory Laparotomy ◽

Primary Site ◽

Diffuse Abdominal Pain

Pseudomyxoma peritonei (PMP) is a rare clinical condition defined as extensive intraperitoneal spread of mucus associated with a variety of mucinous tumors. Although appendix has usually been implicated as the primary site, some reports found no cause. This case also describes a PMP with no identifiable primary site. A 52-year-old male presented with an abdominal distension evolving for 3 months associated with diffuse abdominal pain, imaging techniques objective intra peritoneal mucoid materials with septated ascites but it failed to identify the primary site. Exploratory laparotomy with Biopsy confirmed PMP but also failed to found the original site.

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