Browsing by Author "Mendes, Ana Raquel"
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- Behçet’s syndrome in pediatric agePublication . Mendes, Ana Raquel; Braga, Sandrina; Vilarinho, Catarina; Costa, Maria Antónia; Ferreira, Cristina; Simão, Teresa SãoIntroduction: Behçet´s syndrome is a systemic vasculitis characterized by recurrent oral and/or genital ulcers, and several systemic manifestations. The authors describe the case of a pediatric-onset Behçet´s syndrome. Case report: An 11-year-old boy was referred to the Pediatric consultation after two episodes of great saphenous vein thrombophlebitis. He had experienced daily oral aphthae for the past three years, and various episodes of folliculitis with pustule formation. Laboratory study was normal. The boy showed no signs of uveitis. The diagnosis of Behçet´s syndrome diagnosis was established according to the international criteria, with positive HLA- B51 testing. Colchicine was initiated, with favourable response. Conclusions: Due to clinical feature overlap with other conditions, Behçet’s syndrome diagnosis remains challenging. Consensus pediatric classification criteria developed in 2016 enabled greater sensitivity and earlier diagnosis.
- Congenital disorders of glycosylationPublication . Mendes, Ana Raquel; Quelhas, D; Correia, Joana; Paiva Coelho, Margarida; Bandeira, Anabela; Martins, EsmeraldaCongenital disorders of glycosylation are a highly variable, rapidly expanding family of genetic diseases that result from defects in the synthesis of glycans. The vast majority of these monogenic diseases are inherited in an autosomal recessive way, but some types follow an autosomal dominant or X-linked inheritance. The present work aimed to review the state of the art of congenital disorders of glycosylation, including available therapeutic options, and present a simplified diagnostic approach to this group of diseases. Congenital disorders of glycosylation can be classified into four categories: N-linked glycosylation defects, O-linked glycosylation defects, combined glycosylation defects, and glycosphingolipid and glycosylphosphatidylinositol anchor synthesis defects. The phenotype may range from mild to severe, depending on disease severity. Clinical features include dysmorphic features, neurologic, dermatologic, cardiac, endocrine, immunologic, hematologic, gastrointestinal and liver involvement, and skeletal muscle abnormalities. As there is no universal or pathognomonic sign or symptom and no sensitive diagnostic test, it is of foremost importance to keep a high index of suspicion of these diseases. When a congenital disorder of glycosylation is suspected, the first step in screening is to perform serum transferrin isoelectric focusing. Molecular genetic testing is the most specific diagnostic test. Treatment is usually symptomatic, with specific treatment only available for some of these disorders. Since congenital defects of glycosylation may affect any organ at any age and have variable clinical presentation, they should be considered in the differential diagnosis of any patient with multiorgan involvement.
- Enterococcus faecalis-associated lung abscess in a male adolescent- a case reportPublication . Mendes, Ana Raquel; Costa, António; Ferreira, Helena; Ferreira, CristinaBackground: Enterococci are rarely considered pulmonary pathogens; they are usually regarded as colonizers of the airway. The authors present the case of a previously healthy male adolescent, with complaints of fatigue and chest pain, who was diagnosed with Enterococcus faecalis-associated acute primary lung abscess. Case presentation: A previously healthy 17-year old boy was admitted to the pediatric ward due to a one-week history of fatigue, inspiratory left side chest pain, dry cough and nasal obstruction. On admission at the emergency department, he was afebrile, with no signs of respiratory distress, but with diminished breath sounds on the left side. A chest x-ray showed a round opacity on the posterior basal segment of the left lower lobe; he was discharged with oral amoxicillin 1000 mg three times a day with the diagnosis of community-acquired pneumonia. Due to the worsening of the productive cough with purulent stinking sputum he was re-evaluated after 4 days. Laboratory studies showed a leukocyte count of 15200/uL and a c-reactive protein of 172 mg/l. The chest computed tomography scan was suggestive of a consolidation of the left lower lobe base and a central abscess. An intravenous course of ceftriaxone and clindamycin was initiated, with a favourable clinical evolution. The bronchofibroscopy performed on day four after his admission revealed the presence of a tracheal bronchus and numerous purulent secretions. Culture examination of bronchoalveolar lavage fluid samples was positive (> 10^5) for Enterococcus faecalis. No complications were registered during his stay in the pediatric ward. He was discharged after a 14-day course of intravenous ceftriaxone and clindamycin, with the recommendation to complete a four-week course of oral amoxicillin/clavulanic acid. On his reevaluation 4 weeks after his discharge, he was asymptomatic. Conclusion: This case report highlights the importance of considering Enterococcus faecalis as an etiologic agent in cases of non-resolving or complicated cases of pneumonia, such as lung abscesses, even in young patients with no comorbidities or risk factors.
- Recurrent parotitis in children- case series and literature reviewPublication . Mendes, Ana Raquel; Moreira, Liane; Dias, Ângela; Lopes, Andreia; Lobo, Ana Luísa; Simão, Teresa SãoIntroduction: Recurrent parotitis is defined as the occurrence of two or more episodes of the parotid gland. Several etiologies should be addressed in the approach to these patients. The aim of this study was to investigate the clinical, laboratory, and imaging profile of children with recurrent parotitis. Material and Methods: Retrospective review of the medical records of patients referred to a Pediatric Outpatient Clinic between January 2013 and June 2018. Results: The medical records of 24 patients with recurrent parotitis (66.7% male) and a mean age of seven years and five months were reviewed. The median age of onset of episodes was five years and three months. Unilateral and non-febrile episodes prevailed. Non-steroidal anti-inflammatory drugs were universally used to treat symptoms. Non-acute parotid and neck ultrasound predominantly showed the presence of a heterogeneous gland (57.1%). Sialography performed in five patients suggested chronic parotitis in two and Sjögren syndrome/ sarcoidosis in one. No significant immunologic defects were found beside a mild C3 reduction in one patient and C4 reduction in another patient, apparently without clinical relevance. A single patient tested positive for antinuclear antibodies. Immunoglobulin A deficit was found in one case. The most common final diagnosis was juvenile recurrent parotitis (37.5%). Conclusions: Most cases of recurrent parotitis in pediatric age have benign etiology. A more judicious request of complementary exams in the acute and non-acute phases could be time- and cost-effective.