Publications by authors named "Elena Miravet"

Article Synopsis
  • The blood-brain barrier (BBB) regulates the central nervous system and is linked to neurodevelopmental disorders (NDDs), especially in infants with intracerebral hemorrhage (ICH).
  • Researchers identified a rare disease trait in 13 individuals from 8 families due to a genetic variant in the ESAM gene, affecting endothelial cell function and leading to developmental issues.
  • The study highlights the connection between endothelial dysfunction and NDDs, suggesting the emergence of a new category of diseases called "tightjunctionopathies."
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Background: Investigations of myelin oligodendrocyte glycoprotein (MOG) antibodies are usually focused on demyelinating syndromes, but the entire spectrum of MOG antibody-associated syndromes in children is unknown. In this study, we aimed to determine the frequency and distribution of paediatric demyelinating and encephalitic syndromes with MOG antibodies, their response to treatment, and the phenotypes associated with poor prognosis.

Methods: In this prospective observational study, children with demyelinating syndromes and with encephalitis other than acute disseminated encephalomyelitis (ADEM) recruited from 40 secondary and tertiary centres in Spain were investigated for MOG antibodies.

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Munchausen syndrome by proxy (MSBP), also known as fabricated or induced illness in a child by a caretaker, is a form of abuse where a caregiver deliberately produces or feigns illness in a person under his or her care, so that the proxy will receive medical care that gratifies the caregiver. The affected children are often hospitalized for long periods and endure repetitive, painful and expensive diagnostic attempts. We present an analytically confirmed case of MSBP by alimemazine.

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Paroxysmal non-kinesigenic dyskinesia (PNKD) is an autosomal dominant disorder characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee, alcohol or menstruation. In this report we present two families with PNKD of Southern European origin carrying a PNKD recurrent mutation. Incomplete penetrance and intrafamilial variability was detected in both families.

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The aim of the study was to describe the clinical and radiological features of childhood post-varicella cerebral infarction (PVCI). A retrospective review was undertaken of children with arterial ischaemic stroke (AIS) who had experienced varicella zoster virus (VZV) infection within the preceding year. Twenty-four children (15 males, nine females; age range at time of VZV infection 2mo-6y) were identified, with a median of 4 months between VZV and AIS (range 1wk-12mo).

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We report a case of a 7-month-old male with primary intracranial haemorrhage 2 months after infection with varicella zoster virus (VZV). His initial clinical course was complicated by seizures and right hemiparesis; when last seen at 22 months the only positive finding was of left hand preference. Although the literature has recently established the association of arterial ischaemic stroke and VZV infection, primary intracranial haemorrhage has been reported only in one case.

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The association of cervicothoracic extradural arachnoid cysts and obstetric brachial plexus palsy has not previously been reported. We report two patients with this association. The first patient is a 9-month-old boy with left obstetric brachial plexus palsy that developed bilateral leg weakness at 6 months of age owing to compression of the spinal cord by a C6 to T8 left cervicothoracic extradural arachnoid cyst.

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High levels of methemoglobinemia can cause tissue hypoxia and cyanosis. We report the case of a 7-month-old girl with pulmonary dysplasia receiving inhaled nitric oxide who had cyanosis caused by methemoglobinemia after prolonged use of a eutectic mixture of local anesthetics cream.

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