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A very rare cause of infantile spasms

2020-06-15Journal article Open access
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dc.contributor.authorFonseca, Margarida Silva
dc.contributor.authorVieira, Clara
dc.contributor.authorChorão, Rui
dc.contributor.authorBandeira, Anabela
dc.contributor.authorCarrilho, Inês
dc.date.accessioned2020-07-13T14:43:29Z
dc.date.available2020-07-13T14:43:29Z
dc.date.issued2020-06-15
dc.description.abstractPsychomotor development regression or delay associated with epilepsy represent a diagnostic challenge. The diagnostic approach should take into account age group, epileptic syndrome, physical and neurological data, and organ and/or system involvement. Herein is reported the case of a toddler for whom hair development, epileptic seizure evolution, and electroencephalographic findings were key for Menkes kinky hair disease diagnosis. The typical electroclinical evolution in this syndrome has rarely been previously reported. A 22-month-old boy, born at 35 weeks, was admitted to the hospital by the age of two months due to epileptic seizures. Physical examination revealed dysmorphic facial features, pectus excavatum, and inguinal hernias. Antiepileptic drugs were initiated and one month later the patient was readmitted with recurrent epileptic seizures. Transfer to a hospital with Pediatric Neurology support was required, where light-toned and pleated skin, sparse hair, failure to thrive, and axial hypotonia were remarked. Initial investigation with general metabolic, neuroimaging, ophthalmological, and microarray study revealed no changes. Electroencephalograms were markedly abnormal, initially with focal changes and later with hypsarrhythmia. Considering the patient’s phenotype, copper serum level was analysed, with null value. Molecular study confirmed Menkes kinky hair disease and copper histidine therapy was initiated. Menkes kinky hair disease should be considered in infants with global developmental delay, severe hypotonia, refractory epilepsy, and typical hair and skin changes occurring early in life. However, neonatal diagnosis is hampered by age-unspecific signs and symptoms. Despite being a rare and fatal entity, timely diagnosis allowing early therapy institution and avoiding unnecessary additional tests and prompt genetic counseling are of utmost importance.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationNascer e Crescer - Birth and Growth Medical Journal 2020;29(2): 108-112. doi:10.25753/BirthGrowthMJ.v29.i2.15607pt_PT
dc.identifier.doi10.25753/BirthGrowthMJ.v29.i2.15607pt_PT
dc.identifier.eissn2183-9417
dc.identifier.urihttp://hdl.handle.net/10400.16/2418
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.subjectCopper transport diseasept_PT
dc.subjectdevelopmental disabilitypt_PT
dc.subjectearly diagnosispt_PT
dc.subjectelectroencephalographypt_PT
dc.subjectepilepsypt_PT
dc.subjectgenetic counsellingpt_PT
dc.subjecthairpt_PT
dc.subjectMenkes kinky hair diseasept_PT
dc.subjectneurological manifestationspt_PT
dc.titleA very rare cause of infantile spasmspt_PT
dc.title.alternativeUma causa muito rara de espasmos infantispt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlacePortopt_PT
oaire.citation.endPage112pt_PT
oaire.citation.issue2pt_PT
oaire.citation.startPage108pt_PT
oaire.citation.titleNascer e Crescer - Birth and Growth Medical Journalpt_PT
oaire.citation.volume29pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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