The Guadalajara-Camptodactyly Syndrome-an unusual case
Ontology highlight
ABSTRACT:
SUBMITTER: Khubchandani R
PROVIDER: S-EPMC3194582 | biostudies-literature | 2011 Jan
REPOSITORIES: biostudies-literature
Similar Datasets
Project description:We describe a girl with Sotos syndrome presenting at two and a half years age with developmental delay. She has camptodactyly which has not previously been reported in Sotos syndrome but is a common finding in Weaver syndrome. Both these conditions have been reported to have NSD1 gene mutations. This report is consistent with the conditions being allelic.
| S-EPMC3168163 | biostudies-literature
Project description:The most common deletion syndrome is 22q11.2 and it effects an estimated 1 in 3000 live births. Major features of this multisystem condition include congenital abnormalities, developmental delay, learning difficulties, immunodeficiency, endocrine anomalies and an array of psychiatric disorders. However, variability in phenotype and severity may cause the diagnosis to be overlooked. Early clinical recognition and treatment of DiGeorge syndrome has been shown to increase early life survival, decrease complications and enhance overall quality of life. Skeletal anomalies are infrequently described in 22q11.2 but a subset of patients exhibit upper and lower limb deformities. We present the case of a 5 year-old girl with bilateral fifth digit camptodactyly caused by a fibrous band, and the surgical management of this condition. The current report adds to the body of evidence that camptodactyly is a rare clinical feature of 22q11.2 deletion syndrome, and may serve as a diagnostic aid in these patients.
| S-EPMC8027531 | biostudies-literature
Project description:Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome is a rare genetic disease characterized by tetrad camptodactyly, noninflammatory arthropathy, coxa vara deformity, and pericardial effusion. Arthropathy typically affects large joints and presents with joint swelling in the absence of other signs of inflammation. We described the case of a girl affected by CACP syndrome caused by a novel compound heterozygous variant in proteoglycan 4 gene (c.2831_2832insT; c.3892C > T) and associated with temporomandibular involvement. The patient received treatment with intra-articular hyaluronic acid injections, which presented rapid but transient improvements of pain and range of motion. A literature review of previously reported CACP patients has been performed. Of the patients. 69.2% (101 out of 146) were Middle Eastern, and 65.7% (96) were consanguineous. The median age of onset was 24 months (interquartile range of 12-36 months), and median age of diagnosis was 96 months (interquartile range of 48-156 months). Arthropathy was always present, mainly involving hips (95.2%), knees (92.4%), wrists (87.7%), elbows (79.5%), and ankles (57.5%). Camptodactyly and pericardial effusion were described, respectively, in 97.3% (142) and 15.1% (22) of patients. The main radiological findings were coxa vara (95.2%), femoral changes (64.4%), intraosseus cysts (14.4%), and bone erosion (5%). Of the patients, 32.9% (48) had received a previous juvenile idiopathic arthritis diagnosis. CACP syndrome can be easily misdiagnosed with juvenile idiopathic arthritis. A prolonged lack of response to immunosuppressive therapy associated with typical clinical and radiological features should prompt consideration of this rare syndrome.
| S-EPMC9760854 | biostudies-literature
Project description:BackgroundCamptodactyly-arthropathy-coxa vara-pericarditis (CACP, OMIM: #208250) syndrome is a rare autosomal recessive disease that can be difficult to recognise not only because of its wide clinical variability but also because of its clinical resemblance to juvenile idiopathic arthritis (JIA). PRG4 is the only gene so far known to be associated with CACP syndrome. Children with CACP syndrome lack the glycoprotein lubricin due to recessive mutations in PRG4. Lubricin serves as a lubricant in joints, tendons and visceral cavities (pleural cavity, pericardium) and inhibits synovial proliferation. Children with CACP syndrome suffer from congenital camptodactyly, arthropathy, coxa vara and sometimes pericarditis. This report concerns a child with CACP syndrome complicated by protein-losing enteropathy (PLE), caused by constrictive pericarditis and so contributes to knowledge of the presentation of CACP syndrome.Case presentationA 10- year-old girl with consanguineous parents suffered from congenital camptodactyly and progressive swollen and painful joints. Her father and his sister had similar childhood-onset joint complaints. Laboratory tests showed no signs of inflammation but showed persistent low protein- and IgG- levels, indicating a secondary immunodeficiency. Increased alpha antitrypsin clearance confirmed PLE. Abdominal ultrasound with Doppler showed hepatomegaly and portal hypertension. Echocardiography suggested constrictive pericarditis. However, heart catheterization could not confirm this. Ultrasound and X-ray examination of the joints combined with a puncture of the synovial fluid were performed. These results, combined with the clinical presentation and the consanguinity, suggested CACP syndrome. Due to excessive enteral protein losses, the patient was treated with Cotrimoxazol prophylaxis and immunoglobulin supplements. These supplements were inadequate to achieve normal IgG values. As constrictive pericarditis with subsequent PLE was the best explanation for the excessive IgG losses, pericardiectomy was performed with good results. Genetic testing in our patient was complicated but revealed a pathogenic mutation within the repeat sequence in exon 7 of the PRG4 gene.ConclusionPLE resulting from constrictive pericarditis can be a complication of CACP syndrome. As serious complications can arise from the resulting secondary immunodeficiency, we recommend regular evaluation of clinical symptoms of constrictive pericarditis and PLE in children with CACP syndrome.
| S-EPMC4880819 | biostudies-literature
Project description:Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome is an inherited disorder characterized by congenital or early-onset flexion camptodactyly, childhood-onset of non-inflammatory arthropathy, often associated with non-inflammatory pericarditis or pericardial effusion and progressive coxa vara. The causative gene is located on chromosome band 1q25-31. This gene encodes for "proteoglycan-4" (PRG-4), which is a surface lubricant for joints and tendons. This syndrome has distinct radiological and histological features, which are important to recognize since it may clinically mimic juvenile idiopathic arthritis and mutation studies may not be easily available. We describe a case of a 3-year 3-month-old female with features of CACP syndrome.
| S-EPMC3779395 | biostudies-literature
Project description:IntroductionLi-Fraumeni syndrome (LFS) is a rare autosomal dominant disorder brought on by pathogenic mutations in the TP53 tumor suppressor gene. LFS is characterized by a high lifetime risk of developing various cancers at a relatively young age.Case presentationWe are presenting a 48-year-old male with a diagnosis of LFS that was confirmed by a genetic test triggered by the patient's son's diagnosis of LFS and leukemia. The patient's main symptoms were abdominal pain and weight loss. The patient was diagnosed with two synchronous primary tumors: first, a metastatic gastric invasive adenocarcinoma that is microsatellite instability (MSI) -high; and second, a low grade (G1) (non-function) well-differentiated pancreatic neuroendocrine tumor. These cancers are not the usual type associated with LFS. After eight cycles of chemo-immunotherapy in the form of FOLFOX-Nivolumab, our radiological assessment showed significant response in the metastatic gastric adenocarcinoma and stable disease in pancreatic neuroendocrine tumor. The patient remains on single agent Nivolumab and has had stable disease for the last 12 months.ConclusionGastric cancer and neuroendocrine tumors are not usually associated with LFS. This case illustrates a rare clinical presentation of multiple malignancies in LFS patients.
| S-EPMC10769503 | biostudies-literature
Project description:A 73-year-old female with multiple comorbidities including coronary artery disease was admitted for an elective PCI of a lesion detected in the RCA. On the day of the planned PCI, shortly after right femoral artery cannulation, the patient developed a sudden complete heart block requiring the administration atropine and insertion of a temporary pacemaker. Concomitantly, the patient developed acute pulmonary edema, hypotension, and hypoxia requiring intubation for mechanical ventilation. Vasopressors were administered. A coronary angiogram showed patent left and right coronary arteries, unchanged when compared to the previous angiogram. An echocardiogram performed in the cardiac catheterization lab revealed global hypokinesis of the left and right ventricles, with severe LV systolic dysfunction (EF < 20%). Following an insertion of an intra-aortic balloon pump, the patient was transferred to the CICU. A repeat echocardiogram in the CICU two hours later revealed a classical echocardiographic presentation of Takotsubo syndrome, apical hypokinesis. By the next morning the patient's hemodynamic status significantly improved, the balloon pump was removed, and vasopressors were discontinued. Another echocardiogram was performed 24 hours after the event occurred and revealed a marked improvement in LV systolic function (EF 60%), with complete resolution of apical and septal wall motion abnormalities. Three days after the event, the patient was successfully discharged and asymptomatic at two-month follow-up. This case illustrates an atypical presentation of Takotsubo syndrome that was witnessed from onset to its complete resolution during the patient's hospital stay.
| S-EPMC6311793 | biostudies-literature
Project description:BackgroundA rare complication of oesophageal rupture or Boerhaave syndrome is myopericarditis due to leakage of oesophageal contents. This presentation can mimic a myocardial infarction, making diagnosis and management challenging.Case summaryWe present the case of a middle-aged man presenting with chest pain, who was diagnosed with Boerhaave syndrome complicated by myopericarditis, although the presentation was concerning for acute coronary syndrome.DiscussionThrough this case, we aim to highlight an unusual alternative aetiology of findings classically seen in myocardial infarction.
| S-EPMC11259184 | biostudies-literature
Project description:BackgroundThousands of people suffer from anxiety, depression, and insomnia every day, with benzodiazepines being one of the strategies used to treat these conditions. Withdrawal from its long-term use can lead to potentially life-threatening complications, including Takotsubo syndrome. The authors highlight an atypical case of Takotsubo syndrome secondary to benzodiazepine withdrawal, a rare life-threatening complication of acute substance withdrawal.Case summaryA 58-year-old female presented to the emergency department with altered mental status and acute pulmonary oedema after discontinuing her prescribed benzodiazepines 3 days prior to presentation. Electrocardiogram (ECG) demonstrated anterior ST-segment elevation, with Q-wave and T-wave inversion with prolonged QT interval. Troponin I concentration and B-type natriuretic peptide were elevated to 5407 ng/L (normal ≤ 16 ng/L) and to 1627.0 pg/L (normal ≤ 100 pg/mL), respectively. Echocardiogram showed ballooning of the left ventricle (LV) apex with dyskinesia of the mid and apical segments, with LV function of 15%. Coronary angiography was normal, but left ventriculography showed severe LV systolic dysfunction with akinesis of the mid and apical LV segments and hyperdynamic basal segments. A presumptive diagnosis of benzodiazepine withdrawal-induced Takotsubo syndrome was made, and patients' symptoms, ECG findings, and LV dysfunction resolved after benzodiazepine administration. Six months post discharge, the patient remained asymptomatic with a normal biventricular function, and a beta-blocker was successfully introduced as part of a lifelong plan.DiscussionA diagnosis of benzodiazepine withdrawal-induced Takotsubo syndrome is an underrecognized and challenging diagnosis, due to its atypical clinical presentation. High degree of clinical suspicion for this syndrome is crucial, since favourable prognosis depends on prompt diagnosis and treatment.
| S-EPMC10996924 | biostudies-literature
Project description:Bow Hunter's syndrome (BHS), also known as rotational vertebral artery occlusion (VAO), is a rare entity in which vertebral artery is reversibly compressed due to rotation or extension of the head, causing vertebrobasilar insufficiency. Because of VAO, BHS should be considered as a possible life-threatening condition. Diverse aetiologies of BHS may trigger a broad spectrum of non-specific symptoms and may result in frequent misdiagnosis of this disorder in daily clinical practice. Herein, we present a case of BHS caused by previously non-described vascular aetiology.
| S-EPMC9139719 | biostudies-literature