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Camptodactyly and DiGeorge syndrome: A rare hand anomaly.

ABSTRACT: 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.

SUBMITTER: Hurley CM

PROVIDER: S-EPMC8027531 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature

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Camptodactyly and DiGeorge syndrome: A rare hand anomaly.

Hurley C M CM McHugh N N Carr S S Kelly J L JL

JPRAS open 20210319

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, decre ...[more]

PMID: 33855151

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Project description:T cell populations are regulated both by signals specific to the T-cell receptor (TCR) and by signals and resources, such as cytokines and space, that act independently of TCR specificity. Although it has been demonstrated that disruption of either of these pathways has a profound effect on T-cell development, we do not yet have an understanding of the dynamical interactions of these pathways in their joint shaping of the T cell repertoire. Complete DiGeorge Anomaly is a developmental abnormality that results in the failure of the thymus to develop, absence of T cells, and profound immune deficiency. After receiving thymic tissue grafts, patients suffering from DiGeorge anomaly develop T cells derived from their own precursors but matured in the donor tissue. We followed three DiGeorge patients after thymus transplantation to utilize the remarkable opportunity these subjects provide to elucidate human T-cell developmental regulation. Our goal is the determination of the respective roles of TCR-specific vs. TCR-nonspecific regulatory signals in the growth of these emerging T-cell populations. During the course of the study, we measured peripheral blood T-cell concentrations, TCRbeta V gene-segment usage and CDR3-length spectratypes over two years or more for each of the subjects. We find, through statistical analysis based on a novel stochastic population-dynamic T-cell model, that the carrying capacity corresponding to TCR-specific resources is approximately 1000-fold larger than that of TCR-nonspecific resources, implying that the size of the peripheral T-cell pool at steady state is determined almost entirely by TCR-nonspecific mechanisms. Nevertheless, the diversity of the TCR repertoire depends crucially on TCR-specific regulation. The estimated strength of this TCR-specific regulation is sufficient to ensure rapid establishment of TCR repertoire diversity in the early phase of T cell population growth, and to maintain TCR repertoire diversity in the face of substantial clonal expansion-induced perturbation from the steady state.

Project description:BackgroundIntercoronary communication also known as coronary arcade or coronary cascade is a rare coronary artery anomaly with an incidence of only 0.002% in patients undergoing angiography. This case emphasizes the importance of recognizing this rare anomaly and highlights its clinical significance.Case presentationWe report a case of intercoronary communication in a 56-year-old female who presented with acute chest pain and ST-segment depression in the lateral leads. High-sensitivity troponin-T was elevated and transthoracic echocardiography revealed normal left ventricular function with no regional wall motion abnormality. Hence, the diagnosis of acute coronary syndrome - non-st-elevation myocardial infarction was considered. Coronary angiography revealed a 95% focal stenosis in the major obtuse marginal artery (OM). The right coronary artery (RCA) angiogram revealed a single abnormal channel communicating the right posterolateral branch (PLV) and the distal left circumflex artery (LCX) with retrograde opacification of the proximal LCX, left main coronary artery (LMCA) and left aortic sinus. After she underwent revascularization with the drug-eluting stent to the OM. CT-coronary angiography confirmed the presence of intercoronary communication (ICC) between the right posterolateral branch and the distal LCX artery. No active intervention was done for the ICC. Over a year of follow-up, our patient remained asymptomatic.ConclusionsAngiographically and anatomically, collaterals and intercoronary communications should be differentiated. Obstructive coronary artery disease leads to the development of collaterals, which are typically less than 1 mm in diameter, multiple and tortuous. However, ICC tends to be single and straight, usually seen without obstructive disease with unidirectional or bidirectional flow. Histologically, collaterals consist of endothelium supported by poorly organized collagen, muscle and elastic fibers. Meanwhile, ICCs resemble epicardial vessels in that they have a well-defined muscular layer. This case emphasizes the importance of recognizing this rare coronary anomaly and distinguishing it from collaterals to help in accurate diagnosis. Although they can provide an efficient blood supply to the jeopardized myocardium and can aid as a channel during coronary interventions, they can also cause myocardial ischemia by coronary steal.

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.

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Camptodactyly and DiGeorge syndrome: A rare hand anomaly.

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Camptodactyly and DiGeorge syndrome: A rare hand anomaly.

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