Van Lohuizen Syndrome - A Case Report with a Diagnostic Delay of Four Years.
Ontology highlight
ABSTRACT:
SUBMITTER: Wollina U
PROVIDER: S-EPMC5816322 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
Publications
Van Lohuizen Syndrome - A Case Report with a Diagnostic Delay of Four Years.
Wollina Uwe U França Katlein K Lotti Torello T Tchernev Georgi G
Open access Macedonian journal of medical sciences 20180102 1
<h4>Background</h4>Cutis marmorata telangiectatic congenital or Van Lohuizen syndrome is a rare vascular disorder that may be associated with other congenital malformations. Around 300 cases have been reported so far.<h4>Case report</h4>We present a 4-year-old girl with Van Lohuizen syndrome of the leg, but without any other malformations.<h4>Conclusion</h4>Neonatal lupus erythematosus may resemble congenital vasculopathy, but histopathology and immune-serology are characteristic. ...[more]
Similar Datasets
Project description:BackgroundPacemaker lead dislodgement and failure, related to device manipulation, is a rare complication of permanent pacemaker (PPM) insertion. Reel's, Twiddler's, and Ratchet syndrome are rare causes of pacemaker failure with varying mechanisms, defined by their classical lead and generator findings on chest X-ray imaging. Misleading patient presentations may be attributed to lead stimulation of surrounding structures.Case summaryA 77-year-old female was admitted with abdominal wall pulsations, abdominal pain, and lower limb jerking 3 months following PPM insertion. Following exclusion of a ruptured abdominal aortic aneurysm, the presence of Reel syndrome was noted on the patient's chest X-ray and the electrocardiogram showed inappropriate pacing. Deactivation of the pacemaker resulted in immediate symptom cessation and urgent repositioning of pacemaker leads was undertaken.DiscussionThis case highlights the importance of considering pacemaker complications causing non-cardiac symptomatology. Pacemaker lead stimulation of surrounding structures can present in an unconventional fashion, veiling the diagnosis. However, a structured approach to undifferentiated neuromuscular presentations in patients with PPMs should consider lead dislodgement as a differential diagnosis. Rapid recognition of lead dislodgement, device deactivation, and re-implantation or repositioning of the leads are critical in preventing potentially life-threatening complications.
| S-EPMC8536869 | biostudies-literature
Project description:BACKGROUND:Parents of six children are facing a trial on charges of aggravated manslaughter in the care a 5 1/2 month old infant who died suddenly and neglect of their four older children for causing them to be malnourished by feeding them all an exclusively raw foods vegan diet. Both parents declined plea bargains and plan to defend themselves in court. CASE PRESENTATION:The fifth child born to a married couple was breast-fed until 2 1/2 months. Subsequently, the parents fed the baby an exclusively raw foods diet prepared in a blender at home. The four older children, ages 18 months-6 1/2 years also ate an exclusively raw foods vegan diet. None of the four older children had significant previous injuries or serious illnesses. At autopsy, the infant weighed 3180 mg (6.99 pounds) and appeared emaciated. The thymus gland was absent and parathyroid glands were not located. The lungs were "congested." DiGeorge anomaly cannot be ruled out from these findings. Although, the coroner ruled that "malnutrition" was the sole cause of death, malnutrition, according to the World Health Organization definition, cannot be diagnosed in this infant. Compared with standard growth charts, the older children fell 2.1-4.1 standard deviations below the mean for North American children in height and weight. Labs were normal except for a low cholesterol level in all and a low prealbumin in one of three children tested. Therefore, malnutrition cannot be diagnosed in these children. The pediatrician diagnosed rickets in the four-year-old. However, chest x-rays were normal in all and long bone x-rays showed minimal changes in one child--no sign of rickets. The clinical diagnosis of rickets was not confirmed by the Center for Disease Control's criteria. A psychologist diagnosed the 18-month-old as developmentally delayed to the level of a 15-month-old, but this diagnosis is questionable. CONCLUSION:The raw foods vegan diet and possibly inherited small stature from the father's side account for their relatively low heights and weights. Catch-up growth will probably occur on the standard American diet but would have also been expected if they had remained on a vegan diet.
| S-EPMC1363354 | biostudies-other
Project description:Triple A syndrome 3A (Allgrove syndrome) is a rare autosomal recessive multiorgans dysfunction characterized by alacrima, achalasia which is the absence of esophageal muscle peristalsis and lower sphincter failure to relax and adrenal insufficiency. About third of patient additional features like neurological and autonomic manifestations reported (making the syndrome 4A), the spectrum of neurological symptoms varies including gait disturbances, parkinsonism, muscle wakeness, mental retardation, peripheral sensory and motor neuropathy. Here we reported A 18 years old male, who had postnatal recurrent conjunctivitis so alacrima was diagnosed, in the sventh years he developed achalasia signs; dysphagia and regurgitation and laparscopic surgical myotomy and fundoplication were done, when he became 16 he presented to our clinic for poor appetite, weight loss,and failure to thrive. Assessment of ACTH, cortisol, ACTH stimulation test confirmed he had adrenal insufficiency and physical examination showed he had foots deformity due to muscular atrophy caused by neuropathy.treatment performed by managing symptoms of the condition(replacement of glucocorticoids, surgical correction of achalasia, artificial tears).The follow-up was over a period of 6 months and we noted a great improvement of patient's condition.
| S-EPMC8600000 | biostudies-literature
Project description:BackgroundDiagnostic errors or delays can cause serious consequences for patient safety, especially in the emergency department. Anchoring bias is one of the major factors leading to diagnostic error. During the coronavirus disease 2019 (COVID-19) pandemic, the high probability of COVID-19 in febrile patients could be a major cause of anchoring bias leading to diagnostic error. In addition, certain evaluations such as auscultation are difficult to perform on a casual basis due to the increased risk of contact infection, which lead to inadequate assessment of the patients with valvular disease. Acute mitral regurgitation (MR) could be a fatal disease in the emergency department, especially if there is a diagnostic error or delay in diagnosis. It is often reported that diagnosis can be difficult even though there is no treatment other than emergent surgery. The diagnosis of acute MR has become more difficult because coronavirus disease 2019 (COVID-19) pandemic could affect our daily practice especially in febrile patients. We report a case of a diagnostic delay of a febrile patient because of anchoring bias during the COVID-19 pandemic.Case presentationA 45-year-old man presented to the emergency department complaining of acute dyspnea and fever. Based on vital signs and computed tomography of the chest, acute pneumonia due to COVID-19 was suspected. Auscultation was avoided because of facility rule based on concern of contact infection. After admission to the intensive care unit, Doppler echocardiography revealed acute mitral regurgitation, and transesophageal echocardiography revealed mitral valve tendon rupture. After confirming the negative result for the polymerase chain reaction of severe acute respiratory syndrome coronavirus 2, mitral valvuloplasty was performed on the third day after admission. The patient was discharged 14 days after admission without complications.ConclusionsIn COVID-19 pandemic, anchoring bias suspecting COVID-19 among febrile patients becomes a strong heuristic factor. A thorough history and physical examination is still important in febrile patients presenting with dyspnea to ensure the correct diagnosis of acute mitral regurgitation.
| S-EPMC8287556 | biostudies-literature
Project description:Aspergillary rhinopharyngitis in an equine patient
| PRJEB46193 | ENA
Project description:Chondro-ectodermal dysplasia is a rare autosomal recessive disorder which affects the ectodermal, mesodermal and endodermal derivatives. There are numerous conditions reported under this title which include Ellis van Creveld syndrome. The oral findings include multiple gingivolabial frena, dental abnormality, malocclusion and hypodontia. The diagnosis of Ellis van Creveld syndrome is based on the presence of oral mucosal changes like notching of the lower alveolus, fusion of the upper lip and gingival mucosa; dental changes like oligodontia, conical shape of anterior teeth and occasional presence of neonatal teeth. The authors report a rare case of Ellis van Creveld syndrome occurring among two siblings with oral mucosal, dental and skeletal abnormalities.
| S-EPMC3207784 | biostudies-literature
Project description:Minimal change nephrotic syndrome (MCNS) is the most common cause of nephrotic syndrome in children and can also present in adults. Corticosteroids generally induce remission of MCNS, and relapses are common after reduction or discontinuation of corticosteroids. We experienced a rare case of steroid-sensitive MCNS where the patient relapsed after 52 years of remission. The patient was a 61-year-old Japanese male who visited our clinic for an edema of the lower extremities which had already persisted for a few days. Laboratory testing showed massive urinary protein and low serum total protein and albumin levels. Therefore, he was diagnosed with nephrotic syndrome. He had a history of nephrotic syndrome that initially developed when he was 5 years old. Although corticosteroids reduced the urinary protein level, frequent relapses occurred when their doses were reduced, or when they were discontinued. He had previously experienced a relapse when he was 9 years old. For his current condition, treatment with corticosteroids and diuretics for 1 week reduced his edema and proteinuria. We suspected that this is a case of MCNS and that the present event is a relapse. Thus, we concluded that this is a very rare case of steroid-sensitive nephrotic syndrome that relapsed after 52 years of remission.
| S-EPMC6167670 | biostudies-other
Project description:BackgroundMolecular karyotyping is now the first-tier genetic test for patients affected with unexplained intellectual disability (ID) and/or multiple congenital anomalies (MCA), since it identifies a pathogenic copy number variation (CNV) in 10-14% of them. High-resolution microarrays combining molecular karyotyping and single nucleotide polymorphism (SNP) genotyping were recently introduced to the market. In addition to identifying CNVs, these platforms detect loss of heterozygosity (LOH), which can indicate the presence of a homozygous mutation or uniparental disomy. Since these abnormalities can be associated with ID and/or MCA, their detection is of particular interest for patients whose phenotype remains unexplained. However, the diagnostic yield obtained with these platforms is not confirmed, and the real clinical value of LOH detection has not been established.MethodsWe selected 21 children affected with ID, with or without congenital malformations, for whom standard genetic analyses failed to provide a diagnosis. We performed high-resolution SNP array analysis with four platforms (Affymetrix Genome-Wide Human SNP Array 6.0, Affymetrix Cytogenetics Whole-Genome 2.7 M array, Illumina HumanOmni1-Quad BeadChip, and Illumina HumanCytoSNP-12 DNA Analysis BeadChip) on whole-blood samples obtained from children and their parents to detect pathogenic CNVs and LOHs, and compared the results with those obtained on a moderate resolution array-based comparative genomic hybridization platform (NimbleGen CGX-12 Cytogenetics Array), already used in the clinical setting.ResultsWe identified a total of four pathogenic CNVs in three patients, and all arrays successfully detected them. With the SNP arrays, we also identified a LOH containing a gene associated with a recessive disorder consistent with the patient's phenotype (i.e., an informative LOH) in four children (including two siblings). A homozygous mutation within the informative LOH was found in three of these patients. Therefore, we were able to increase the diagnostic yield from 14.3% to 28.6% as a result of the information provided by LOHs.ConclusionsThis study shows the clinical usefulness of SNP arrays in children with ID, since they successfully detect pathogenic CNVs, identify informative LOHs that can lead to the diagnosis of a recessive disorder. It also highlights some challenges associated with the use of SNP arrays in a clinical laboratory.
| S-EPMC4299176 | biostudies-literature
Project description:Renal leiomyosarcomas (LMS) are extremely rare neoplasms with aggressive behaviour and poor survival prognosis. The most frequent somatic events in leiomyosarcomas are mutations in TP53, RB1, ATRX and PTEN genes, chromosomal instability and chromoanagenesis. By using chromosomal microarray analysis we identified monosomy of chromosomes 3 and 11, gain of Xp (ATRX) arm and three chromoanasynthesis regions (6q21-q27, 7p22.3-p12.1 and 12q13.11-q21.2), with MDM2 and CDK4 oncogenes copy number gains, whereas no CNVs or tumor specific SNVs in TP53, RB1 and PTEN genes were observed.
2020-06-04 | GSE151766 | GEO
Project description:Labium majus abscess in the presence of the novel anaerobic Lawsonella clevelandensis: a first report
| PRJEB40325 | ENA