NEU1 Mutation in a Korean Infant with Type 2 Sialidosis Presenting as Isolated Fetal Ascites

Lee, Yeoun Joo; Son, Seung-Kook; Park, Jaehong; Song, Joo Seok; Cheon, Chong Kun

doi:10.1016/j.pedneo.2014.05.004

Cited by 4 publications

(2 citation statements)

References 6 publications

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“…It can be observed that hydrops, ascites, and edema are the distinguishing features of the severe, congenital group of the disease, followed by coarse features, dysostosis multiplex, and hepatosplenomegaly. Renal involvement, cardiac anomalies, ophthalmic finding, myoclonus, inguinal hernia, telangiectasias, petechiae, bluish to purpuric macules and hydrocephalus are the clinical features that may infrequently manifest [ 9 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 ]. Studies reporting histopathological features of congenital sialidosis are limited.…”

Section: Morphological and Clinical Aspects Of Sialidosis And mentioning

confidence: 99%

Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder

Khan

Sergi

2018

Diagnostics

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Sialidosis (MIM 256550) is a rare, autosomal recessive inherited disorder, caused by α-N-acetyl neuraminidase deficiency resulting from a mutation in the neuraminidase gene (NEU1), located on 6p21.33. This genetic alteration leads to abnormal intracellular accumulation as well as urinary excretion of sialyloligosaccharides. A definitive diagnosis is made after the identification of a mutation in the NEU1 gene. So far, 40 mutations of NEU1 have been reported. An association exists between the impact of the individual mutations and the severity of clinical presentation of sialidosis. According to the clinical symptoms, sialidosis has been divided into two subtypes with different ages of onset and severity, including sialidosis type I (normomorphic or mild form) and sialidosis type II (dysmorphic or severe form). Sialidosis II is further subdivided into (i) congenital; (ii) infantile; and (iii) juvenile. Despite being uncommon, sialidosis has enormous clinical relevance due to its debilitating character. A complete understanding of the underlying pathology remains a challenge, which in turn limits the development of effective therapeutic strategies. Furthermore, in the last few years, some atypical cases of sialidosis have been reported as well. We herein attempt to combine and discuss the underlying molecular biology, the clinical features, and the morphological patterns of sialidosis type I and II.

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Section: Morphological and Clinical Aspects Of Sialidosis And mentioning

confidence: 99%

Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder

Khan

Sergi

2018

Diagnostics

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“…La ascitis fetal es el acúmulo de líquido intraperitoneal que puede estar asociada a diferentes causas como anemia fetal, infecciones congénitas, cardiopatías, malformaciones gastrointestinales, malformaciones genitourinarias e hidrops fetal (16)(17)(18) .…”

Section: Ascitis Fetal Compresivaunclassified

Uso de derivaciones intrauterinas en cirugía fetal

Muñoz Acosta,

Lara Ávila,

Gil Guevara

2024

Rev peru ginecol obstet.

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Desde la década de 1960, la medicina fetal ha evolucionado rápidamente. Graciasa los avances de la tecnología y a la formación de expertos en esta rama de lamedicina, se ha podido realizar diagnósticos más precisos de las patologías fetales.La mayoría de estas patologías pueden ser tratadas posnatalmente. Sin embargo, enalgunos casos se requiere de intervención prenatal pues de lo contrario el embarazopuede culminar en muerte fetal o en graves secuelas del recién nacido. Patologíasintratorácicas con compresión mediastínica, estenosis aórtica, obstrucción urinariainferior, hernia diafragmática congénita, mielomeningocele, obstrucción urinariainferior, transfusión intravascular intrauterina, síndrome de transfusión feto-fetal ysecuencia TRAP, entre otras, son las patologías fetales susceptibles de terapia enútero. El presente artículo se refiere al uso de derivaciones intrauterinas en cirugíafetal.

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