A case of prenatal chronic intestinal pseudo‐obstruction associated with Leigh syndrome

Itai, Toshiyuki; Ishikawa, Hiroshi; Kurosawa, Kenji; Tsuyusaki, Yu

doi:10.1002/ccr3.1638

Clinical Case Reports

2018

DOI: 10.1002/ccr3.1638

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A case of prenatal chronic intestinal pseudo‐obstruction associated with Leigh syndrome

Toshiyuki Itai

Hiroshi Ishikawa

Kenji Kurosawa

et al.

Abstract: Key Clinical MessageChronic intestinal pseudo‐obstruction (CIPO) is a major sign of mitochondrial disorders. We present the first reported case of fetal bowel dilation associated with Leigh syndrome. The possibility of CIPO should be taken into consideration even when mild fetal bowel dilation is detected.

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2024

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Cited by 2 publications

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Gastrointestinal involvement in neuromuscular disorders

Finsterer,

Strobl

2024

J of Gastro and Hepatol

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Although not often discussed, many of the neuromuscular disorders (NMDs) affect the gastrointestinal tract (GIT). Depending on the type of NMD, the prevalence of GIT involvement ranges from <5% (e.g. hereditary neuropathies, myofibrillar myopathies) to 100% (e.g. MNGIE, OPMD). Particularly in NMDs with multisystem affection, involvement of the GIT can dominate the clinical presentation or at least make up a significant part of the clinical picture. The most prominent representatives of NMDs with multisystem involvement are the mitochondrial disorders (MIDs) and the myotonic dystrophies. The best known syndromic MIDs with GIT involvement are MNGIE, MELAS, Leigh, and Pearson syndromes. Among neuropathies, GIT involvement is most commonly found in ALS and GBS. GIT involvement may also be a feature of myasthenia. The clinical manifestations of GIT involvement are diverse and can affect the entire GIT, from the teeth to the rectum, including the liver and pancreas. The most well‐known clinical manifestations of GIT involvement are dysphagia, nausea, vomiting, reflux, hollow organ dysmotility, hepatopathy, diabetes, diarrhea, constipation, and fecal incontinence. Even if treatment can usually only be symptomatic, the therapeutic options are diverse, are often effective, and can significantly and beneficially influence the course of the underlying NMD.

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Gastrointestinal involvement in neuromuscular disorders

Finsterer,

Strobl

2024

J of Gastro and Hepatol

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Fetal and obstetrics manifestations of mitochondrial diseases

Alessia,

Anastasia,

Alessia

et al. 2024

J Transl Med

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During embryonic and neonatal development, mitochondria have essential effects on metabolic and energetic regulation, shaping cell fate decisions and leading to significant short- and long-term effects on embryonic and offspring health. Therefore, perturbation on mitochondrial function can have a pathological effect on pregnancy. Several shreds of evidence collected in preclinical models revealed that severe mitochondrial dysfunction is incompatible with life or leads to critical developmental defects, highlighting the importance of correct mitochondrial function during embryo-fetal development. The mechanism impairing the correct development is unknown and may include a dysfunctional metabolic switch in differentiating cells due to decreased ATP production or altered apoptotic signalling. Given the central role of mitochondria in embryonic and fetal development, the mitochondrial dysfunction typical of Mitochondrial Diseases (MDs) should, in principle, be detectable during pregnancy. However, little is known about the clinical manifestations of MDs in embryonic and fetal development. In this manuscript, we review preclinical and clinical evidence suggesting that MDs may affect fetal development and highlight the fetal and maternal outcomes that may provide a wake-up call for targeted genetic diagnosis.

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A case of prenatal chronic intestinal pseudo‐obstruction associated with Leigh syndrome

Cited by 2 publications

References 10 publications

Gastrointestinal involvement in neuromuscular disorders

Gastrointestinal involvement in neuromuscular disorders

Fetal and obstetrics manifestations of mitochondrial diseases

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