Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Constipation as an Atypical Sign of ARC Syndrome - Case Report.

ABSTRACT: ABSTRACT: Background: Arthrogryposis- renal tubular dysfunction - cholestasis (ARC) syndrome is a rare multisystem disorder originally described in 1973 and recently ascribed to mutation in VPS33 B whose product acts in intracellular trafficking. It exhibits wide clinical variability but the constipation isn’t a characteristic clinical sign. Case: This girl presented after birth severe contractures of legs. She was admitted at 30 days of age with poor feeding, cholestatic jaundice with normal GGT and failure to thrive . Also we have noted a severe acidosis (pH=7.2) associated with aminoaciduria and glucosuria. At second month of age the girl presented a severe ichtyosis, recurrent fever and constipation. Apart from treatment the constipation has persisted. The baby died of sepsis at 12 weeks of age. Conclusion: ARC syndrome exhibits notable clinical variability. Constipation has not been reported previously on the contrary diarrhea is a frequent clinical sign. Knowledge of this rare condition can benefit the practitioner as well as the patient.

SUBMITTER: VELMISHI V

PROVIDER: S-EPMC6256161 | biostudies-other | 2016

REPOSITORIES: biostudies-other

ACCESS DATA

Json Xml

Similar Datasets

Case Report: Lipoprotein Glomerulopathy Complicated by Atypical Hemolytic Uremic Syndrome.

Project description:Lipoprotein glomerulopathy (LPG) is a rare inherited disease caused by mutations in the APOE gene, encoding apolipoprotein E (apoE). Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy (TMA) characterized by overactivation of the alternative complement pathway. Here we report the case of a 21-year-old man with LPG who developed aHUS. A functional complement assay demonstrated an overactivation of the complement system. Complementary genetic analysis revealed a homozygous aHUS risk allele for complement factor-H related 1 (CFHR1), CFHR1*B. To the best of our knowledge, this is the first report of an aHUS in a patient with LPG.

| S-EPMC8206272 | biostudies-literature

Atypical presentation of scimitar syndrome with severe hepatomegaly: a case report.

Project description:BackgroundScimitar syndrome is a rare congenital disease characterized by partial or total anomalous pulmonary venous return from the right lung into the systemic venous system, and accounts for 0.5-2% of all congenital heart disease. Severe forms of the disease are diagnosed in childhood. However, because of the benign form of the syndrome in adults, many are asymptomatic, or present only mild symptoms including exertional dyspnoea, arrhythmias, and respiratory infections. We report an atypical presentation with hepatomegaly.Case summaryA 24-year-old woman was evaluated for abdominal discomfort. Physical examination revealed a remarkable hepatomegaly. Chest X-ray revealed dextroversion, enlargement of the right cavities, and a curvilinear opacity known as 'scimitar sign'. A transthoracic echocardiography demonstrated right ventricular dilation and a venous collector draining into right suprahepatic vein, which was severely dilated, with large hepatomegaly. Scimitar syndrome was confirmed by magnetic resonance imaging (MRI). Therefore, the patient underwent surgery, redirecting the pulmonary venous return to left atrium. Three months later, the patient remained asymptomatic and both the hepatomegaly and the right chamber volumes normalized.DiscussionAbdominal discomfort, as in our clinical case, is a highly atypical presentation of scimitar syndrome. It is important for physicians to be aware that diagnostic suspicion can be established from a chest X-ray, on which the scimitar sign can be distinguished in many cases. The diagnosis must be confirmed with other imaging modalities, such as echocardiography, MRI, or computed tomography. Corrective surgery may relieve the symptoms related to liver congestion at follow-up.

| S-EPMC8374964 | biostudies-literature

A case report on atypical presentations of Dyke-Davidoff-Masson syndrome

Project description: Not available

| S-EPMC11336888 | biostudies-literature

Case report: Focal segmental glomerulosclerosis in a pediatric atypical progeroid syndrome.

Project description:Atypical progeroid syndrome (APS) is a rare type of progeroid syndrome mainly caused by heterozygous missense mutations in the LMNA (MIM 150330) gene. APS has heterogeneous clinical manifestations, and its kidney manifestations, particularly in children, are rarely documented. Here, we report the first pediatric case of APS with focal segmental glomerulosclerosis (FSGS). A 10-year-old boy with progeroid features was referred to the nephrology clinic because of hyperuricemia. He had dark skin, protruding eyes, and beaked nose and was very thin, suggesting lipodystrophy. He had been treated for recurrent urinary tract infection during infancy, and liver biopsy for persisting hepatitis showed steatohepatitis. He also had hypertrophic cardiomyopathy (HCMP) with mitral and tricuspid valve regurgitation. Genetic studies were performed considering his multisystem symptoms, and he was diagnosed as having APS according to exome sequencing findings (c.898G > C, p.Asp300His of LMNA). During the first visit to the nephrology clinic, he had minimal proteinuria (urine protein/creatinine ratio of 0.23 mg/mg), which worsened during follow-up. In three years, his urine protein/creatinine ratio and N-acetyl-b-D-glucosaminidase/creatinine ratio increased to 1.52 and 18.7, respectively. The kidney biopsy result was consistent with findings of FSGS, peri-hilar type, showing segmental sclerosis of 1 (5%) glomerulus out of 21 glomeruli. An angiotensin receptor blocker was added to manage his proteinuria. This is the first pediatric report of FSGS in an APS patient with confirmed LMNA defect, who manifested progeroid features, lipodystrophy, HCMP with heart valve dysfunction, and steatohepatitis. Our case suggests that screening for proteinuric nephropathy is essential for managing APS patients since childhood.

| S-EPMC9660256 | biostudies-literature

Case report: atypical presentation of vancomycin induced DRESS syndrome: a case report and review of the literature.

Project description:BackgroundDrug reaction with eosinophilia and systemic symptoms (DRESS) is a severe hypersensitivity drug reaction involving the skin and multiple internal organ systems. The symptoms typically present with fever and skin rash, and rapidly progress to multiple organ failures. Vancomycin is a rare drug to cause DRESS syndrome with 23 cases reported to date.Case presentationWe described a case of a 39 year-old man who was treated with vancomycin for osteomyelitis of the foot. The patient subsequently developed acute respiratory distress syndrome (ARDS) followed by rash and acute interstitial nephritis. These symptoms were improved by withdrawal of vancomycin and a pulsed corticosteroid regimen. According to the European Registry of Severe Cutaneous Adverse Reaction Criteria (RegiSCAR) (Kardaun et al, British Journal of Dermatology, 169:1071-1080, 2013), the probability of vancomycin induced DRESS syndrome was scored as "Definite". A literature search of vancomycin induced DRESS syndrome was also performed and the overall pulmonary involvement was estimated as 5%. To our knowledge, this was the first case reported with pulmonary involvement as the initial symptom.ConclusionThis is the first case to report pulmonary manifestation as the initial symptom in vancomycin induced DRESS syndrome. Prompt recognition of this entity can expedite proper treatment and hasten recovery.

| S-EPMC5745618 | biostudies-literature

Dystonia: A novel sign of the Smith-Magenis syndrome - A three-case report.

Project description: Not available

| S-EPMC11367135 | biostudies-literature

Case Report: Denys–Drash Syndrome With WT1 Causative Variant Presenting as Atypical Hemolytic Uremic Syndrome

Project description:The WT1 variant is confirmed to be pathogenic for Denys–Drash syndrome (DDS), a rare disorder characterized by early-onset nephrotic syndrome and renal failure, pseudo-hermaphroditism, and a high risk of Wilms' tumor. Several cases of DDS presenting with atypical hemolytic uremic syndrome (aHUS) have been reported. Here we report the case of a 2-year-old child who was diagnosed with WT1 missense variant, associated with DDS and initial presentation of aHUS. Complement factor H autoantibodies were negative. Complement regulatory system-related gene variants were not found, but a de novo heterozygous c.754G>A missense variant in exon 9 of WT1 gene was detected, resulting in a p. Asp252Asn substitution, by next-generation sequencing. The patient was a female morphologically but proved to be a genetic male because of karyotype 46, XY with normally developed female external genitalia. Bilateral nephrectomy and renal transplantation were performed 1 year later, and there was no recurrence of aHUS at 10 months after transplantation.

| S-EPMC7775732 | biostudies-literature

Figure of 3-sign: a case report.

Project description:BackgroundA 50-year-old mother of four children was newly diagnosed with arterial hypertension and bilateral neck pulsations.Case summaryHer current blood pressure was 170/100 mmHg in the right arm and 122 mmHg systolic in the right ankle. There was a radio-femoral delay palpable. The electrocardiogram showed signs of left ventricular hypertrophy. On the chest X-ray, a figure of 3-sign was found at the aortic knuckle and notching of the inferior ribs was present. An echocardiogram showed concentric left ventricular hypertrophy, a mildly stenotic bicuspid aortic valve, and a low peak-gradient across the descending aorta. Magnetic resonance imaging demonstrated severe focal coarctation with complete interruption of the descending aorta. Large collaterals vessels were present, effectively bridging the aortic interruption.DiscussionIn light of the extensive collateral vessels and the bleeding risk, an extra-anatomic aortic bypass was considered the least risky procedure. The patient agreed to the intervention and had an uncomplicated surgical course and recovery. At the 12-month follow-up, she was doing well and normotensive on Lisinopril 5 mg OD.

| S-EPMC6439367 | biostudies-literature

Klippel-Trenaunay-Weber syndrome with atypical presentation of hypersplenism and nephrotic syndrome: a case report.

Project description:Klippel-Trenaunay-Weber syndrome is a rare syndrome; unfortunately, very few studies of the connection between hypersplenism, nephrotic syndrome, and Klippel-Trenaunay-Weber syndrome have been published.We report the case of a 40-year-old white man with a typical clinical presentation of Klippel-Trenaunay-Weber syndrome, including "port-wine stains," varicose veins, hypertrophy of lower extremities, and arteriovenous fistula, as well as an unfortunate development of hypersplenism and nephrotic syndrome.This case report described considerable atypical relevance of Klippel-Trenaunay-Weber syndrome and hypersplenism together with nephrotic syndrome. A multidisciplinary approach was made. Unfortunately, hypersplenism is characterized by pancytopenia that suggests splenectomy, whereas nephrotic syndrome is an indication for renal biopsy; the splenectomy and renal biopsy were delayed due to our patient's severe condition. Deeper analysis including study of other patients with Klippel-Trenaunay-Weber syndrome would help us to understand the connection between elevated spleen and liver sizes, nephrotic syndrome, and Klippel-Trenaunay-Weber syndrome.

| S-EPMC5563946 | biostudies-other

Gallstone ileus with evident forchet sign:case report.

Project description:IntroductionGallstone ileus (GS?) is a rare complication of cholelithiasis (gallbladderstone), which may lead to obstruction of the small intestine. Particularly, computerized tomographic (CT) imaging method and special findings in these images help diagnosing of gallstone ileus. Treatment of this disease is surgery, surgery involves cholecystectomy?+?fistula repair?+?enterolitotomy, but it is controversial to perform cholecystectomy with enterolitotomy and fistula repair in the same session.Presentation of caseA 75-year-old male patient consulted to the emergency department with the complaints of nausea and vomiting. In the examinations of the patient, bilienteric fistula and gallstones that impacted in the jejunum leading to obstruction were observed in abdominal CT images of the patient who has ileus. The patient was evaluated as gallstone ileus. In addition, on tomographic images significant Forchet sign and Rigler's triad images were viewed which were pathognomonic for gallstone ileus and did not have images as clear as in our case in the literature search. Laparotomy was performed on the patient due to the fact that he was elderly and the duration of anesthesia was wanted to be kept short and stone was extracted by enterolitotomy. Cholecystectomy and fistula repair were left for another session because of gallbladder and surrounding tissues were edematous. The patient was discharged with full recovery on the 6th post-operative day.Discussion-conclusionAs well as this disease is a rare cause of mechanical bowel obstruction, it is mostly seen in elderly patients. The most sensitive and specific imaging method in diagnosis is contrast-enhanced abdominal computerized tomography. In the tomographic images, especially the Rigler's triad, Forchet sign and Petren sign are pathognomonic for gallstone ileus.

| S-EPMC6690574 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data