Browsing by Author "Garrido, Cristina"
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- Acute Fulminant Cerebral Edema in a Child With Suspected MeningoencephalitisPublication . Monteiro, Sara; Teixeira, Beatriz; Fraga, Carolina; Dias, Andreia; Cardoso, Ana Lúcia; Meireles, Daniel; Sarmento, Alzira; Ferreira, Paula Regina; Silva, João; Garrido, Cristina; Gonçalves, SaraAcute fulminant cerebral edema (AFCE) is a recently identified encephalitis type associated with significant morbimortality. Described as rare, limited data exists on its early detection and treatment. This paper describes a case of AFCE that progressed to unresponsive intracranial hypertension. A previously healthy four-year-old boy presented with fever, myalgias, and neurological symptoms. Diagnostic assessments showed cerebrospinal fluid abnormalities, and despite medical interventions, his condition deteriorated rapidly and developed severe cerebral edema and herniation within 24 hours. A decompressive craniectomy was attempted to decrease intracranial pressure, without success. This case emphasizes the urgency of early AFCE recognition and effective management strategies given its severe prognosis, aiming to improve understanding and spur further research
- Clinical Role of Codon 87 of the CYFIP2 Gene in Early Infantile Epileptic Encephalopathy: A Clinical Case DescriptionPublication . Da Silva Cardoso, Juliana; Gomes, Rita; Abreu, Maria; Parente Freixo, João; Falcão Reis, Cáudia; Garrido, CristinaThe diagnosis of early infantile epileptic encephalopathy (EIEE) remains challenging, and next-generation sequencing (NGS) techniques have played a key role in identifying genetic causes. Recent studies have shown an association between mutations in the CYFIP2 gene and EIEE, with 20 deleterious variants reported so far and a de novo mutational hotspot at codon 87. A male infant presented with seizures since the age of four months as well as significant developmental delay and microcephaly. The seizures were of different types, frequent and refractory to treatment, including different anticonvulsant drugs. Metabolic studies showed no significant changes. The initial electroencephalogram revealed bilateral paroxysmal activity with hemispherical diffusion. Brain MRI showed no pathological changes. Analysis of a whole exome sequencing (WES) based multigene panel for epilepsy disclosed a heterozygous CYFIP2 gene variant [c.258_266del; p.(Trp86_Ser88del)] established as de novo. We describe the case of an infant with EIEE due to a de novo heterozygous in-frame deletion of three amino acids in CYFIP2: c.258_266del; p.(Trp86_Ser88del). This in-frame deletion eliminates codon 87, a mutational hotspot associated with a particularly severe EIEE phenotype. All previous reports had missense variants with a presumably gain-of-function mechanism. The clinical picture of our patient is very similar to the ones with deleterious variants affecting codon 87 reported in the literature. Our case report is the first to describe a disease-causing in-frame deletion in CYFIP2 and reiterates a consistent genotype-phenotype correlation.
- Gradenigo syndrome: an unexpected otitis complicationPublication . Mendes, Catarina; Garrido, Cristina; Guedes, Margarida; Marques, LauraIntroduction: Gradenigo syndrome (also known as apical petrositis) is a clinical triad of otitis media, trigeminal neuralgia and ipsilateral abducens nerve palsy. In the era of antibiotic therapy, it is an exceptional but potentially life threatening complication of acute otitis media, requiring prompt diagnosis and treatment. Case report: A seven-year-old girl with previous history of otitis, presented with left ear pain, headache, diplopia and fever. Diagnosis of Gradenigo syndrome was established and she was treated with systemic broad-spectrum antibiotics and myringotomy with timpanostomy tube placement. Clinical outcome was favourable. Conclusion: This case documents therapeutic success and total recovery with a conservative approach in an immunocompetent child with Gradenigo syndrome.
- Posterior Reversible Encephalopathy Syndrome in a Pediatric Intensive Care Unit: A Case SeriesPublication . Teixeira, Beatriz; Gonçalves, Vera; Cardoso, Ana Lúcia; Ribeiro Fernandes, Sofia; Rocha, Liliana; Garrido, Cristina; Sarmento, AlziraPosterior reversible encephalopathy syndrome (PRES) is a reversible clinical-radiographic abnormality. It is characterized by headache, altered consciousness, seizures, and visual disruption, in addition to characteristic white matter edema lesions in the parieto-occipital areas of the brain. Early detection and treatment are crucial to prevent irreversible damage. This paper presents the cases of three patients with PRES with concurrent diagnoses of glomerulonephritis, Guillain-Barré syndrome, and sickle cell disease. All patients experienced systemic hypertension, seizures, and altered consciousness. All patients were admitted to intensive care for decreased level of awareness or status epilepticus requiring invasive mechanical ventilation. Anticonvulsants and antihypertensive therapy were essential. No chronic complications were recorded.