Severe gyration and migration disorder in fetofetal transfusion syndrome: two case reports and a review of the literature on the neurological outcome of children with lesions on neuroimaging

Ascherl, R.; Sorge, Ina; Thomé, Ulrich; Hirsch, Wolfgang; Bläser, A.; Kieß, Wieland; Merkenschlager, Andreas

doi:10.1007/s00381-017-3595-7

Cited by 8 publications

(6 citation statements)

References 37 publications

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“…Additional nongenetic causes include vascular disruptive events during pregnancy and, according to a few reports, maternal ergotamine use 123 . Twinning is also a risk factor for polymicrogyria, par ticularly in the case of death of a monozygotic cotwin, and in some cases of twintotwin transfusion syndrome, in which the donor twin is most commonly affected 124 . The association with twinning is proposed to be related to vascular disturbance and/or hypoperfusion 125 .…”

Section: Periventricular Nodular Heterotopiamentioning

confidence: 99%

International consensus recommendations on the diagnostic work-up for malformations of cortical development

et al. 2020

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Malformations of cortical development (MCDs) are neurodevelopmental disorders that result from abnormal development of the cerebral cortex in utero. MCDs place a substantial burden on affected individuals, their families and societies worldwide, as these individuals can experience lifelong drug-resistant epilepsy, cerebral palsy, feeding difficulties, intellectual disability and other neurological and behavioural anomalies. The diagnostic pathway for MCDs is complex owing to wide variations in presentation and aetiology, thereby hampering timely and adequate management. In this article, the international MCD network Neuro-MIG provides consensus recommendations to aid both expert and non-expert clinicians in the diagnostic work-up of MCDs with the aim of improving patient management worldwide. We reviewed the literature on clinical presentation, aetiology and diagnostic approaches for the main MCD subtypes and collected data on current practices and recommendations from clinicians and diagnostic laboratories within Neuro-MIG. We reached consensus by 42 professionals from 20 countries, using expert discussions and a Delphi consensus process. We present a diagnostic workflow that can be applied to any individual with MCD and a comprehensive list of MCD-related genes with their associated phenotypes. The workflow is designed to maximize the diagnostic yield and increase the number of patients receiving personalized care and counselling on prognosis and recurrence risk.

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Section: Periventricular Nodular Heterotopiamentioning

confidence: 99%

International consensus recommendations on the diagnostic work-up for malformations of cortical development

et al. 2020

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“…Fetal and neonatal MRI studies have shed more light on brain abnormalities detected in TTTS in the last decade. Several studies have reported additional findings of MRI compared to ultrasonography alone, including polymicrogyria and other migrational disorders, sinovenous thrombosis, and more subtle and/or diffuse white matter injury [42,64,[68][69][70][71]. Donors and recipients are equally affected by cerebral injury, although the occurrence of cerebral arterial stroke seems to be a specific risk for recipients [42,62,72].…”

Section: Cerebral Injurymentioning

confidence: 99%

Twin-twin transfusion syndrome in the era of fetoscopic laser surgery: antenatal management, neonatal outcome and beyond

Spruijt

Lopriore

Steggerda

et al. 2020

Expert Review of Hematology

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Introduction: Twin-twin transfusion syndrome (TTTS) is a devastating complication of monochorionic twin pregnancy and remains a major challenge for worldwide fetal medicine specialists. In TTTS, intertwin transfusion through vascular anastomoses in the shared placenta leads to severe hemodynamic imbalance. This review summarizes the current knowledge of TTTS. Areas covered: The most recent insights concerning the management of TTTS, as well as fetal and neonatal complications are described. Relevant articles were selected based on a Pubmed search using the keywords below. Understanding of the underlying pathophysiology has improved greatly as a result of placental injection studies. Advancements in antenatal management have led to increased perinatal survival and a decreased incidence of neonatal complications, including brain injury and neurodevelopmental impairment. Expert opinion: Further opportunities for improvement comprise technological innovations in laser procedures and the prevention of preterm rupture of membranes with subsequent prematurity. A noninvasive treatment such as high-intensity focused ultrasound (HIFU) seems to hold promise for the future treatment of TTTS. Fetal MRI studies are important to improve our understanding of fetal brain injury and should relate their findings to long-term neurodevelopment. International collaboration and centralization of care are of paramount importance to ensure the best care for our patients.

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“…However, the risk of brain damage, a serious complication in TTTS, is reported as 11-14% [4]. The most common type of brain damage observed in TTTS is an ischemic change due to cerebral hypoperfusion, usually in the donor twin; there are also a few reports of migration disorder [5,6]. In this study, we report a case of a TTTS donor with diffuse cortical dysplasia.…”

Section: Introductionmentioning

confidence: 84%

Diffuse Cortical Dysplasia in the Donor of Twin-to-Twin Transfusion Syndrome Following Fetoscopic Laser Photocoagulation: A Case Report

Miyana

Hayakawa

Muromoto

et al. 2021

Journal of Fetal Medicine

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Twin-to-twin transfusion syndrome (TTTS) is a severe gestational complication due to an imbalance of blood flow between monochorionic diamniotic twins. TTTS can cause brain damage, most commonly ischemic lesions, but there are only a few reports of cortical dysplasia. We report the case of a TTTS donor twin with diffuse cortical dysplasia. Fetoscopic laser photocoagulation was performed at 18 weeks of gestation, and no abnormalities were noted in the subsequent course of the pregnancy; however, infantile spasms developed at 4 months after birth, and brain magnetic resonance imaging revealed diffuse cortical dysplasia. It was bilateral and widespread. A genetic abnormality was suspected, but no pathogenic mutation was detected. Hypoperfusion may have altered the expression of guidance factors, resulting in abnormal cortical formation.

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Severe gyration and migration disorder in fetofetal transfusion syndrome: two case reports and a review of the literature on the neurological outcome of children with lesions on neuroimaging

Abstract: While the close resemblance of the imaging features of both cases is likely incidental further study of a connection between migration and gyration disorders and fetofetal transfusion syndrome is warranted.

Cited by 8 publications

References 37 publications

International consensus recommendations on the diagnostic work-up for malformations of cortical development

International consensus recommendations on the diagnostic work-up for malformations of cortical development

Twin-twin transfusion syndrome in the era of fetoscopic laser surgery: antenatal management, neonatal outcome and beyond

Diffuse Cortical Dysplasia in the Donor of Twin-to-Twin Transfusion Syndrome Following Fetoscopic Laser Photocoagulation: A Case Report

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