A Life-Threatening Complication in a Patient with Ehlers-Danlos Syndrome Musculocontractural Type

Daşar, Tuğba; Donkervoort, Sandra; Şimşek‐Kiper, Pelin Özlem; Göçmen, Rahşan; Ütine, Eda; Boduroğlu, Koray; Bönnemann, Carsten G.; Haliloğlu, Göknur

doi:10.4274/jpr.galenos.2022.51482

Cited by 2 publications

(1 citation statement)

References 10 publications

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“…A total of 170 articles were included in the final review (alphabetically ordered based on author in Supplementary Table 2). 1,2,7–50,55,56,68–189 A PRISMA flow diagram is presented to track the process and number of studies included and excluded (Figure 1).…”

Section: Resultsmentioning

confidence: 99%

Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review

Kim,

Pistawka,

Langlois

et al. 2023

Clinical Genetics

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Genetic and genomic technologies can effectively diagnose numerous genetic disorders. Patients benefit when genetic counselling accompanies genetic testing and international guidelines recommend pre‐ and post‐test genetic counselling with genome‐wide sequencing. However, there is a gap in knowledge regarding the unique genetic counselling considerations with different types of genetic testing in the Neonatal Intensive Care Unit (NICU) and the Pediatric Intensive Care Unit (PICU). This scoping review was conducted to identify the gaps in care with respect to genetic counselling for infants/pediatric patients undergoing genetic and genomic testing in NICUs and PICUs and understand areas in need of improvement in order to optimize clinical care for patients, caregivers, and healthcare providers. Five databases (MEDLINE [Ovid], Embase [Ovid], PsycINFO [Ebsco], CENTRAL [Ovid], and CINHAL [Ebsco]) and grey literature were searched. A total of 170 studies were included and used for data extraction and analysis. This scoping review includes descriptive analysis, followed by a narrative account of the extracted data. Results were divided into three groups: pre‐test, post‐test, and comprehensive (both pre‐ and post‐test) genetic counselling considerations based on indication for testing. More studies were conducted in the NICU than the PICU. Comprehensive genetic counselling was discussed in only 31% of all the included studies demonstrating the need for both pre‐test and post‐test genetic counselling for different clinical indications in addition to the need to account for different cultural aspects based on ethnicity and geographic factors.

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Section: Resultsmentioning

confidence: 99%

Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review

Kim,

Pistawka,

Langlois

et al. 2023

Clinical Genetics

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Musculocontractural Ehlers-Danlos Syndrome Leading to Hemorrhagic Shock From Giant Subcutaneous Hematoma: A Case Report

Uemura,

Tsuboi,

Nakagawa

2024

Cureus

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The patient was a six-year-old boy with a history of musculocontractural Ehlers-Danlos syndrome (mcEDS). He presented to the emergency department after falling on the road the day before admission, which led to an increase in subcutaneous hematoma in his left lower leg and brief syncope. Initial blood tests revealed a decreased hemoglobin level of 8.1 g/dL (normal range: 14 g/dL). Contrast-enhanced CT showed a massive subcutaneous and intermuscular hematoma in the left thigh. He was diagnosed with hemorrhagic shock due to this extensive hemorrhage and was admitted to the ICU. The affected area was elevated, and hemostasis was achieved through compression. The swelling gradually improved, and he was discharged from the hospital on day 13 after admission. EDS is a systemic condition caused by genetic mutations affecting collagen and collagen-modifying enzymes. mcEDS is an extremely rare variant with a recently identified causative gene, characterized by abnormal connective tissue development and progressive fragility. Giant subcutaneous hematomas resulting from tissue fragility are serious complications of this disease, often occurring with minor trauma and sometimes leading to gradual hemorrhagic shock. Desmopressin nasal drops can be effective in preventing such hematomas. It is crucial to consider the risk of hemorrhagic shock from subcutaneous hemorrhage in patients with mcEDS, especially when repeated subcutaneous hematomas of unknown origin are observed.

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A Life-Threatening Complication in a Patient with Ehlers-Danlos Syndrome Musculocontractural Type

Cited by 2 publications

References 10 publications

Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review

Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review

Musculocontractural Ehlers-Danlos Syndrome Leading to Hemorrhagic Shock From Giant Subcutaneous Hematoma: A Case Report

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