Sengers syndrome: a rare case of cardiomyopathy combined with congenital cataracts in an infant: post-mortem case report

Fnon, Nora Fawzy; Hassan, Hanan Hosney; Ali, Hazem M.; Sobh, Zahraa Khalifa

doi:10.1016/j.carpath.2021.107371

Cited by 10 publications

(6 citation statements)

References 16 publications

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“…The most commonly identified causes that led to death without prodromes were congenital anomalies and anaphylactic shock. Studies reported that congenital malformations, especially in the heart, are not usually manifested during life and were diagnosed for the first time during autopsy (Sheppard, 2020;Fnon et al 2021). Anaphylactic shock has an abrupt onset and rapidly progressive course; thus, prodromes are not usually reported in cases of fatal anaphylaxis (Greenberger et al 2007).…”

Section: Discussionmentioning

confidence: 99%

A postmortem study of unexpected natural pediatric deaths in Egypt

Fnon¹,

Ismael

Hassan³

et al. 2022

Egypt J Forensic Sci

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Background Identifying the causes of unexpected pediatric deaths is a clinical, medicolegal, and humanitarian requirement. This study included autopsied children aged < 18 years who suddenly died due to natural causes and excluded nonnatural deaths. The study was performed over 5 years in the Egyptian Forensic Medical Authority. Results The study included 244 cases, consisting of 51.6% of neonates (< 1 month), 18% of infants (1–12 months), and 30.3% of children (1–18 years). The cause of death in neonates and children was “explained natural diseases” in 73.8% and 91.9%, respectively, while it was only 45.5% in infants. Infection-related deaths account for 30.4% of all explained natural deaths. Infections were responsible for 11.8% of explained deaths in neonates, while 55% and 48.5% were in infants and children, respectively. Of the fatal infections, 60% occurred at the age of > 1 year. Pneumonia accounted for 61.8% of infection-related deaths, followed by myocarditis (12.7%) and septicemia (12.7%). Regarding systems that had fatal pathologies, respiratory causes were responsible for 64% of explained natural deaths, whereas cardiovascular and central nervous system diseases accounted for 11% and 7.7% of explained natural deaths, respectively. Considering prodromes, alarming symptoms were reported before death in 51.2% of cases, whereas death occurred without alarming manifestations in 29.9% of cases. The rest of the cases (18.9%) were abandoned children with unavailable antemortem data. Conclusions Present results serve as a valuable reference dataset for deaths in developmental stages in Egypt that guides forensic practitioners in managing child deaths.

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Section: Discussionmentioning

confidence: 99%

A postmortem study of unexpected natural pediatric deaths in Egypt

Fnon¹,

Ismael

Hassan³

et al. 2022

Egypt J Forensic Sci

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“…Sengers syndrome, an extremely rare autosomal recessive disorder, is characterized by hypertrophic cardiomyopathy, congenital cataracts, mitochondrial myopathy, and lactic acidosis after exercise 97,98 . To date, approximately 40 cases have been reported in disparate locations worldwide 99 . As a rare inherited disease, the etiology and pathogenesis of Sengers syndrome still remain elusive now.…”

Section: Pathological Implication Of the Adenine Nucleotide Transloca...mentioning

confidence: 99%

“…97,98 To date, approximately 40 cases have been reported in disparate locations worldwide. 99 As a rare inherited disease, the etiology and pathogenesis of Sengers syndrome still remain elusive now.…”

Section: Sengers Syndromementioning

confidence: 99%

Adenine nucleotide translocase: Current knowledge in post‐translational modifications, regulations and pathological implications for human diseases

Chen

et al. 2023

The FASEB Journal

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Adenine nucleotide translocases (ANTs) are central to mitochondrial integrity and bioenergetic metabolism. This review aims to integrate the progresses and knowledge on ANTs over the last few years, contributing to a potential implication of ANTs for various diseases. Structures, functions, modifications, regulators and pathological implications of ANTs for human diseases are intensively demonstrated here. ANTs have four isoforms (ANT1-4), responsible for exchanging ATP/ADP, possibly composing of pro-apoptotic mPTP as a major component, and mediating FA-dependent uncoupling of proton efflux. ANT can be modified by methylation, nitrosylation and nitroalkylation, acetylation, glutathionylation, phosphorylation, carbonylation and hydroxynonenal-induced modifications. Compounds, including bongkrekic acid, atractyloside calcium, carbon monoxide, minocycline, 4-(N-(S-penicillaminylacetyl)amino) phenylarsonous acid, cardiolipin, free long-chain fatty acids, agaric acid, long chain acyl-coenzyme A esters, all have an ability to regulate ANT activities. ANT impairment leads to bioenergetic failure and mitochondrial dysfunction, contributing to pathogenesis of diseases, such as diabetes (deficiency), heart disease (deficiency), Parkinson's disease (reduction), Sengers Syndrome (decrease), cancer (isoform shifting), Alzheimer's Disease (coaggregation with Tau), Progressive External Opthalmoplegia (mutation), and Fascioscapulohumeral muscular dystrophy (overexpression). This review improves the understanding of the mechanism of ANT in pathogenesis of human diseases, and opens a window for novel therapeutic strategies targeted on ANT in diseases.

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“…Clinical course ranges from a severe fatal form, leading to death within the third year of age in around 86% of cases [ 8 ], to a more benign form with survival into adulthood [ 7 ], to an isolated form of congenital cataract [ 9 ]. To date, only 2/44 genetically reported patients [ 2 – 23 ] have survived the second decade at their latest examination [ 10 , 11 ], and no natural history data are available for the disease.…”

Section: Introductionmentioning

confidence: 99%

Long term follow-up in two siblings with Sengers syndrome: Case report

et al. 2022

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Background Sengers syndrome is characterized by congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy, and lactic acidosis associated with mutations in AGK gene. Clinical course ranges from a severe fatal neonatal form, to a more benign form allowing survival into adulthood, to an isolated form of congenital cataract. Thus far few reported cases have survived the second decade at their latest examination, and no natural history data are available for the disease. Case presentation Here we provide a 20-year follow-up in two siblings with a benign form of Sengers syndrome, expanding the phenotypical spectrum of the disease by reporting a condition of ovarian agenesis. Conclusion To our knowledge, this report provides the first longitudinal data of Sengers syndrome patients.

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Sengers syndrome: a rare case of cardiomyopathy combined with congenital cataracts in an infant: post-mortem case report

Cited by 10 publications

References 16 publications

A postmortem study of unexpected natural pediatric deaths in Egypt

A postmortem study of unexpected natural pediatric deaths in Egypt

Adenine nucleotide translocase: Current knowledge in post‐translational modifications, regulations and pathological implications for human diseases

Long term follow-up in two siblings with Sengers syndrome: Case report

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