Repository logo
 
Publication

Coarse face, hypotonia, and neurodevelopmental regression

2020-06-15Journal article Open access
Simple item page
dc.contributor.authorMiranda, Ana Margalha
dc.contributor.authorEzequiel, Marta
dc.contributor.authorLuís, Catarina
dc.contributor.authorDupont, Juliette
dc.contributor.authorGaspar, Paulo
dc.contributor.authorVilarinho, Laura
dc.contributor.authorJaneiro, Patrícia
dc.contributor.authorGaspar, Ana
dc.date.accessioned2020-07-14T14:07:45Z
dc.date.available2020-07-14T14:07:45Z
dc.date.issued2020-06-15
dc.description.abstractInborn errors of metabolism are a heterogeneous class of multisystemic diseases which, although individually rare, are collectively quite common. Central nervous system is usually affected. The authors report the case of a five-month-old girl, daughter of non-consanguineous parents, born after an unremarkable full-term pregnancy and delivery. Hypotonia and neurodevelopmental regression were noted from the age of five months, along with progressive onset of facial dysmorphism, hepatomegaly, seizures, and dilated cardiomyopathy. Gangliosidosis type 1 diagnosis was confirmed by biochemical, enzymatic, and genetic findings. This report enhances the relevance of multidisciplinary approach and follow-up.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationNascer e Crescer - Birth and Growth Medical Journal 2020;29(2): 117-120. doi:10.25753/BirthGrowthMJ.v29.i2.15184pt_PT
dc.identifier.doi10.25753/BirthGrowthMJ.v29.i2.15184pt_PT
dc.identifier.eissn2183-9417
dc.identifier.urihttp://hdl.handle.net/10400.16/2420
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherCentro Hospitalar Universitário do Portopt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/pt_PT
dc.subjectCoarse faciespt_PT
dc.subjectdevelopmental regressionpt_PT
dc.subjectGangliosidosispt_PT
dc.subjecthypotoniapt_PT
dc.subjectlysosomal storage diseasept_PT
dc.titleCoarse face, hypotonia, and neurodevelopmental regressionpt_PT
dc.title.alternativeFace grosseira, hipotonia e regressão do neurodesenvolvimentopt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlacePortopt_PT
oaire.citation.endPage120pt_PT
oaire.citation.issue2pt_PT
oaire.citation.startPage117pt_PT
oaire.citation.titleNascer e Crescer - Birth and Growth Medical Journalpt_PT
oaire.citation.volume29pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

Files

Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
15184-Article Text-76808-1-10-20200626.pdf
Size:
463.96 KB
Format:
Adobe Portable Document Format
Download

Collections

RN&C: Ano de 2020