A Sudden Infant Death Due to Congenital Diaphragmatic Hernia

Solomon, Nadia; Hayes, Jonathan

doi:10.23907/2016.068

Cited by 4 publications

(3 citation statements)

References 16 publications

(72 reference statements)

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“…To rule out the possibility of neuronal defect, we confirmed proper neuromuscular junctions and acetylcholine receptor development. Therefore, it was concluded that impaired diaphragmatic development and function can cause severe respiratory burden, ultimately leading to the death of newborns, as demonstrated in several preclinical and clinical studies (34)(35)(36). We also found altered patterns of muscle relaxation in soleus muscle.…”

Section: Discussionsupporting

confidence: 64%

Unlocking the Role of sMyBP-C: A Key Player in Skeletal Muscle Development and Growth

Song,

McNamara,

Baby

et al. 2023

Preprint

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Skeletal muscle is the largest organ in the body, responsible for gross movement and metabolic regulation. Recently, variants in the MYBPC1 gene have been implicated in a variety of developmental muscle diseases, such as distal arthrogryposis. How MYBPC1 variants cause disease is not well understood. Here, through a collection of novel gene-edited mouse models, we define a critical role for slow myosin binding protein-C (sMyBP-C), encoded by MYBPC1, across muscle development, growth, and maintenance during prenatal, perinatal, postnatal and adult stages. Specifically, Mybpc1 knockout mice exhibited early postnatal lethality and impaired skeletal muscle formation and structure, skeletal deformity, and respiratory failure. Moreover, a conditional knockout of Mybpc1 in perinatal, postnatal and adult stages demonstrates impaired postnatal muscle growth and function secondary to disrupted actomyosin interaction and sarcomere structural integrity. These findings confirm the essential role of sMyBP-C in skeletal muscle and reveal specific functions in both prenatal embryonic musculoskeletal development and postnatal muscle growth and function.

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Section: Discussionsupporting

confidence: 64%

Unlocking the Role of sMyBP-C: A Key Player in Skeletal Muscle Development and Growth

Song,

McNamara,

Baby

et al. 2023

Preprint

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“…The defect occurs very early in pregnancy (10–12 weeks of gestation), which corresponds to the time of the diaphragm development (Sefton et al 2018 ) and is detected through a routine ultrasound at 22 to 28 weeks of gestation. The diaphragmatic structures do not extend toward each other or fuse during development, resulting in an incomplete diaphragm or a complete diaphragm with insufficiently muscled and therefore weak regions (Solomon and Hayes 2016 ). In our case and according to the histology study, the diaphragm has normally developed with normal muscular cells, except for the defect area which corresponded to an incomplete diaphragm structure.…”

Section: Discussionmentioning

confidence: 99%

Death by late presenting of diaphragmatic hernia in an infant: case report and review of the literature

Abderrahim

Jedidi

Daly

et al. 2022

Egypt J Forensic Sci

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Background Congenital diaphragmatic hernia (CDH) is a congenital malformation of the diaphragm, resulting in the herniation of the abdominal organs into the thoracic cavity. If not properly diagnosed before or at birth, CDH represents a life-threatening pathology in infants and a major cause of death. We present a fatal case of congenital diaphragmatic hernia corresponding to Bochdalek hernia, discovered incidentally during a sudden death’s autopsy of an infant. To achieve a better view of the range of these anomalies, we also conducted a literature review on this subject describing the pathogenesis, manifestations, diagnosis, and autopsy contribution to addressing these CDH. Case presentation The case involved a 4-month-old female infant who presented sudden respiratory difficulties after breastfeeding. External examination found marked cyanosis with no evidence of trauma. Upon opening the chest cavity, the stomach, markedly distended, was occupying much of the left pleural cavity. The left lung was compressed and displaced superiorly, and the heart was also compressed and deviated to the right. This mediastinal deviation was due to an ascension of the stomach into the chest cavity through a 2 × 1.5 cm defect in the posterior left hemidiaphragm. Further examination remarked an ecchymotic appearance of the stomach portion entrapped in the hernia defect suggesting recent strangulation of the stomach. The lungs showed atelectasis with signs of pulmonary infection in the histology study. Conclusions CDH might be considered uncommon and not always mentioned in the list of sudden death in infant causes. Forensic pathologists should know of this malformation in order to apply the best autopsy techniques and thus allow positive feedback to pediatricians considering the possible legal implications.

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“…Congenital diaphragmatic hernia (CDH) is a rare anatomical birth defect, causing the embryological elements of the diaphragm fail to fuse completely, leaving a defect. [1] The incidence of CDH is 1 in 2500 births, with the left side (85%) predominance. [2,3].…”

Section: Introductionmentioning

confidence: 99%

A death due to complications following late-onset congenital diaphragmatic hernia in a young child

Jayarathna¹,

Warushahennadi

Ariyarathna

2022

Medico-Legal J SL

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Congenital diaphragmatic hernia (CDH) is a rare anatomical birth defect, causing the diaphragm fails to fuse completely, leaving a defect and causing herniation of the abdominal viscera towards the thoracic cavity. Though most cases of CDH are symptomatic and diagnosed in the early stages of life some asymptomatic cases may go undetected and later detect as incidental or may present with respiratory or gastrointestinal symptoms. We report a case of late-onset CDH which leads to a rapidly fatal medical emergency causing challenges in clinical diagnosis. An eight-year-old previously healthy schoolgirl was admitted to a primary care hospital following recurrent upper abdominal pain, nausea, and vomiting for a duration of 3 consecutive days. According to the parents she has taken treatment from a general practitioner. She was afebrile, hypotensive, tachycardic, and drowsy and was found unresponsive during transfer to a tertiary care hospital and was pronounced dead. On opening the thoracic cavity, it was noted that some of the abdominal contents like the entire stomach, duodenum, and proximal part of the small intestine, splenic flexure of the transverse colon were present within the left hemi thorax causing left lung hypoplasia, thoracic midline shift, intestinal compression, and elevated luminal pressure causing gastric erosions and chemical peritonitis. This case highlights the importance of higher clinical vigilance and the value of early diagnosis and timely medical attention to relatively uncommon but surgically correctable conditions like CDH.

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A Sudden Infant Death Due to Congenital Diaphragmatic Hernia

Cited by 4 publications

References 16 publications

Unlocking the Role of sMyBP-C: A Key Player in Skeletal Muscle Development and Growth

Unlocking the Role of sMyBP-C: A Key Player in Skeletal Muscle Development and Growth

Death by late presenting of diaphragmatic hernia in an infant: case report and review of the literature

A death due to complications following late-onset congenital diaphragmatic hernia in a young child

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