Percorrer por autor "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
- Becker Muscular Dystrophy in Pediatric Population: Diagnosis, Genetic Variability, and Disease ProgressionPublication . Ribeiro, Mário; Silva, Joana; Gonçalves, Ana; Santos, Manuela; Garrido, CristinaIntroduction: Becker muscular dystrophy (BMD) is an X-linked neuromuscular disease caused by variants in the DMD gene that leads to progressive muscle weakness, dilated cardiomyopathy, and neurodevelopmental issues. Objective: To characterize patients with BMD from a pediatric neuromuscular disease center. Methods: Retrospective and descriptive study of BMD patients diagnosed between January 1995 and May 2024. Results: A total of 22 male cases were identified, with 9/22 reporting family history of BMD. First symptoms appeared at a median age of 3.0 years (IQR 4.5) and included unstable gait (5/22), fatigue (5/22), myalgias (4/22), asymptomatic elevation of creatine kinase (3/22), delayed motor development (3/22), and myoglobinuria (2/22). Average age at diagnosis was 7.7 years (IQR 5.6). The most frequent genetic alteration was a deletion involving exon 48 of the DMD gene (8/22). The developmental issues identified were intellectual disability (5/22), attention-deficit/hyperactivity disorder (ADHD) (3/22), autism spectrum disorder (1/22), and specific language impairment (1/22). Dilated cardiomyopathy developed at pediatric age in 1 patient, and 3 started corticosteroid therapy owing to worsening motor symptoms. The average follow-up time was 8.7 years (SD 1.1). Conclusion: The phenotypic variability of BMD complicates its diagnosis, but early recognition is crucial for conducting appropriate monitoring and genetic counseling as well as family studies. Our findings highlight the need for multidisciplinary follow-up, particularly due to the significant prevalence of neurodevelopmental problems.
- 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.
- Presymptomatic treatment of type 1 spinal muscular atrophy – A literature reviewVieira, Paula Manuel; Garrido, Cristina; Santos, ManuelaSpinal muscular atrophy (SMA) is the leading monogenic cause of childhood death and SMA1 is its most common form. It is caused by a pathogenic variant in the survival motor neuron (SMN) 1 gene that results in the lack of a functional SMN protein. Patients suffer from a rapid and irreversible loss of motor neurons. Symptoms include weakness, hypotonia, and delayed or absent achievement of early motor milestones, never reaching the ability to sit independently. Respiratory muscle weakness, tongue fasciculations, and poor swallowing reflexes are common. Diagnosis is based on molecular genetic testing. To ensure earlier diagnosis, newborn screening (NBS) programs have been implemented in some countries and are extremely reliable. Before the development of disease-modifying therapies, the natural course of the disease led to rapid weakness with respiratory failure and death before the age of two in most patients. Disease-modifying drugs reduce the need for respiratory and nutritional support and lead to motor gains. Greater improvements are seen in patients treated early, before symptoms become apparent. These findings underscore the need for NBS programs, as early treatment is highly effective in reducing the need for supportive therapy, thereby reducing the overall cost of therapy.