Browsing by Author "Pereira, Sandra"
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- Hypoxemia in an adolescent: when the cause is between the linesPublication . Pereira, Tatiana; Loureiro, Graça; Pereira, Sandra; Rocha, Cristina; Guimarães, Paulo; Oliveira, SaraSpontaneous pneumomediastinum is a rare entity in pediatric age, with multifactorial etiology. A 16-year-old male with multiple allergies (mites, dogs, cats, and grasses), daily smoker (one pack/day for one year), and regular cannabis, cocaine, and amphetamine consumer went to the Emergency Department of the local hospital with cough, dyspnea, chest pain, and fever with 12 hours of evolution. On physical examination, the boy presented facies complaints, polypnea, shortness of breath, extensive subcutaneous emphysema in the cervical region and right hemithorax, and diminished vesicular murmur bilaterally with expiratory wheezing. Chest x-ray was performed, revealing alterations compatible with pneumomediastinum and subcutaneous emphysema in the cervical region. Urine test was positive for tetrahydrocannabinoids. Atopy (IgE levels) study was performed, with positive result, and serological testing was performed for Mycoplasma pneumoniae, showing IgM of 33U/mL and IgG of 25U/mL. In this clinical case, multiple pneumomediastinum triggering/predisposing factors can be identified, including marked smoking habits, acute mycoplasma infection, and inhaled and smoked drug consumption. The aim of this study was to review the pathophysiology/semiology of pneumomediastinum and emphasize the importance of clinical suspicion.
- Linear IgA bullous dermatosis: report of an exuberant clinical case and literature reviewPublication . Pereira, Sandra; Martins, Alexandra; Oliveira, Teresa; Monteiro, VirgíniaIntroduction: Linear IgA dermatosis (LIGAD) is a rare acquired disease, with a probable autoimmune origin. Its differential diagnosis involves other bullous dermatosis. Case Report: A previously healthy 12-month-old male was observed at the Emergency Department due to a 4-day itchy vesiculobullous rash in the perineal region, lower abdomen, hands, and feet. Analytical study was normal. Flucloxacillin and hydroxyzine were initiated without improvement. New (some of which confluent) lesions, erosions, and serohematic crusts developed on the periphery of previous lesions. A skin biopsy was performed at this time, revealing a subepidermal blister with neutrophilic infiltrate at histological examination. Direct immunofluorescence uncovered linear IgA deposits along the basement membrane. Lesion remission occurred without further therapeutic measures. Discussion: Although clinically exuberant, LIGAD is usually a self-limited disease. A high degree of suspicion is important, since immunofluorescence is diagnostic and pathognomonic, avoiding late diagnosis, unnecessary treatments, and parental anxiety.
- Síndrome dismórfico em recém-nascido com hipocolesterolemiaPublication . Ferreira, Inês; Pereira, Sandra; Lira, Sónia; Bandeira, Anabela; Quelhas, Dulce; Martins, EsmeraldaIntrodução: São diversas as patologias causadas por erros na biossíntese do colesterol, sendo a síndrome de Smith-Lemli-Opitz a mais frequente. Caso Clínico: Lactente, sexo masculino internado aos 31 dias de vida por dificuldades alimentares e má progressão ponderal. Apresentava síndrome dismórfica (anomalias esqueléticas pós-axiais), hipotonia axial, movimentos espontâneos e reflexos débeis Do estudo realizado destaca-se uma hipocolesterolemia e uma elevação dos percursores do colesterol, que permitiram fazer o diagnóstico de Síndrome de Smith-Lemli-Opitz, tendo sido confirmado por estudo molecular. Após suplementação com colesterol verificou-se ligeira recuperação ponderal. Discussão: A Síndrome de Smith-Lemli-Opitz é uma síndrome polimalformativa, de transmissão autossómica recessiva, que resulta de um erro inato da biossíntese do colesterol. É causada por um defeito da 7-dehidrocolesterol redutase, que condiciona níveis diminuídos de colesterol e elevação dos seus percursores. A suplementação com colesterol permitiu uma melhoria clínica parcial.