The Seckel Syndrome: A Case Observed in the Pediatric Department of the University Hospital Center Sourou Sanou (Burkina Faso)

Ouattara, Ad Bafa Ibrahim; Barro, Makoura; Nacro, Sahoura Fatimata; Traore, I.; Sanogo, Bintou; Diallo, J.W.; Nacro, Boubacar

doi:10.4081/pr.2020.8231

Cited by 3 publications

(1 citation statement)

References 8 publications

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“…Como no caso apresentado, estudo realizado há mais de quatro décadas que contemplou a revisão de 61 artigos mostrou uma maioria de pacientes acometidos pela doença cujos pais eram saudáveis e não possuíam qualquer grau de parentesco (PASSOS ATP e BRASILEIRO IC, 2020). Todavia, não são incomuns os artigos que vêm demonstrando a existência de relação familiar entre os genitores e creditam esta constatação ao fato de este ser um transtorno autossômico recessivo (OUATTARA ABI, et al, 2020).…”

Section: Discussionunclassified

Síndrome de Seckel: relato de caso de uma rara condição genética / Seckel's Syndrome: case report of a rare genetic condition

Rodrigues¹,

Lima²,

Villela³

et al. 2021

Braz. J. Develop.

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O presente artigo objetivou relatar o caso clínico de uma paciente, sabidamente portadora de Síndrome de Seckel, em acompanhamento no ambulatório de endocrinologia e metabologia para avaliação de seu desenvolvimento. Trata-se de um estudo descritivo, do tipo relato de caso, que visou analisar as principais características clínicas apresentadas pela criança em questão e estabelecer comparativos com a literatura disponível até o momento. A paciente apresentou baixa estatura, baixo peso e dismorfismos clássicos desta alteração genética como nanismo, fronte curta, nariz proeminente com ponte e dorso elevados, face plana, orelhas pequenas e normoimplantadas e clinodactilia de 5 dedos. As manifestações evidenciadas neste relato de caso se assemelham àquelas retratadas na maioria dos estudos publicados. Ressalta-se o papel fundamental empenhado pelo conhecimento da doença, sobretudo no que tange à realização precoce do diagnóstico e ao estabelecimento do manejo multidisciplinar aos pacientes portadores da síndrome.

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Section: Discussionunclassified

Síndrome de Seckel: relato de caso de uma rara condição genética / Seckel's Syndrome: case report of a rare genetic condition

Rodrigues¹,

Lima²,

Villela³

et al. 2021

Braz. J. Develop.

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Central nervous system vasculopathy and Seckel syndrome: case illustration and systematic review

et al. 2021

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Purpose To systematically review reported cases of Seckel syndrome (SS) and point out cases associated with central nervous system (CNS) vasculopathy and provide a summary of their clinical presentation, management, and outcomes including our illustrative case. Methods We conducted a search on the MEDLINE, PubMed, Google Scholar, and Cochrane databases using the keywords “Seckel + syndrome.” We identified 127 related articles reporting 252 cases of SS apart from our case. Moreover, we searched for SS cases with CNS vasculopathies from the same databases. We identified 7 related articles reporting 7 cases of CNS vasculopathies in SS patients. Results The overall rate of CNS vasculopathy in SS patients is 3.16% (n = 8/253), where moyamoya disease (MMD) accounted for 1.97%. The mean age is 13.5 years (6–19 years), with equal gender distribution (M:F, 1:1). The most common presenting symptoms were headache and seizure followed by weakness or coma. Aneurysms were mostly located in the basilar artery, middle cerebral artery, and internal carotid artery, respectively. Regardless of the management approach, 50% of the cases sustained mild-moderate neurological deficit, 37.5% have died, and 12.5% sustained no deficit. Conclusion A high index of suspicion should be maintained in (SS) patients, and MMD should be part of the differential diagnosis. Prevalence of CNS vasculopathy in SS is 3.16% with a much higher prevalence of MMD compared to the general population. Screening for cerebral vasculopathy in SS is justifiable especially in centers that have good resources. Further data are still needed to identify the most appropriate management plan in these cases.

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Progeroid Cockayne Syndrome

Kungurtseva,

Vitebskaya

2024

Vopr. sovr. pediatr.

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Cockayne syndrome is a rare genetic disease from the group of premature aging syndromes associated with impaired DNA repair. The syndrome is autosomal recessive, and it is caused by pathogenic variants in ERCC8, ERCC6, XPB (ERCC3), XPD (ERCC2), and XPG (ERCC5) genes. Its prevalence is 1 case per 2.5 million people. The clinical signs include nervous, cardiovascular and musculoskeletal systems impairments, severe growth retardation, and body weight deficiency. The average life expectancy of these patients varies from 5 to 30 years and depends on the disease type and severity. There is no pathogenetic treatment. This article presents the results of the latest research on the disease diagnosis and management.

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The Seckel Syndrome: A Case Observed in the Pediatric Department of the University Hospital Center Sourou Sanou (Burkina Faso)

Cited by 3 publications

References 8 publications

Síndrome de Seckel: relato de caso de uma rara condição genética / Seckel's Syndrome: case report of a rare genetic condition

Síndrome de Seckel: relato de caso de uma rara condição genética / Seckel's Syndrome: case report of a rare genetic condition

Central nervous system vasculopathy and Seckel syndrome: case illustration and systematic review

Progeroid Cockayne Syndrome

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