RN&C: Ano de 2021
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- Biochemical clinical casePublication . Silva, Joana Vanessa; Ferreira, Joana; Silva, Mariana; Costa, MiguelBisalbuminemia is a qualitative albumin variation defined by coexistence of two types of serum albumin with different electrophoretic mobilities in the same individual. It can be of two different types: hereditary (or permanent) and acquired (or transient). Herein is described a rare case of hereditary bisalbuminemia in a healthy infant, incidentally found during elevated aminotransferase study. Despite not having pathological significance, acknowledgement of this analytical alteration is key for adequate management of these patients.
- Nasal obstruction in a newbornPublication . Coelho, Tiago Lourenço; Neves, João Fonseca; Caiado, Ricardo; Silva, Luís FilipeDacryocystocele is an uncommon congenital disease affecting less than 1% of newborns. Herein is presented the case of a female newborn with respiratory distress with onset in the first hours of life and worsening during breastfeeding. Resistance to endoscope progression due to narrowing of both patent nasal cavities was noticed during flexible nasal endoscopy, and computed tomography revealed an extremely rare case of bilateral dacryocystocele. A conservative approach was chosen, with surveillance in the Intensive Care Unit. Although most dacryocystocele cases resolve spontaneously in the first year of life, recognition of this rare condition (particularly in Otolaryngology and Ophthalmology clinical practice) is crucial to prevent complications.
- Rhino-orbital-cerebral mucormycosis in a pediatric cancer patientPublication . Couto, Maria Eduarda; Oliva, Tereza; Alberto, Pedro; Lebre, Ana; Pinto, Armando; Ferreira, Ana MaiaAim: Mucormycosis infections are highly lethal in immunosuppressed patients. The authors present a rare case of successful treatment of the condition. Case description: A 14-year-old male with acute lymphoblastic lymphoma in remission was diagnosed with pansinusitis, cerebral osteomyelitis, and encephalitis with an abscess caused by Rhizopus sp. Neurosurgical drainage, endoscopic sinus surgery, and left eye enucleation were performed, and the patient was simultaneously treated with lipossomal-amphotericin B and posaconazol (later replaced by isavuconazol). However, complications (left frontal lobe herniation and cerebrospinal fluid fistula) ensued, requiring surgical reoperation. Chemotherapy was restarted four months later. Comments: This is a rare case report, in which early and aggressive surgery, antifungal treatment, and multidisciplinary team work were crucial for the successful outcome.
- Infantile hepatic hemangioendothelioma in a newbornPublication . Silva, Joana Vanessa; Quaresma, Liliana; Ribeiro, Fátima; Ferreira, Inês; Trindade, Eunice; Caldeira, Teresa; Andrade, TeresaInfantile hepatic hemangioendothelioma is the most common benign hepatic vascular tumor in infants younger than six months and may undergo spontaneous regression during the first years of life. Diagnosis of these lesions in preterm newborns can be challenging, with its timing and accuracy relevant to avoid inappropriate therapeutic measures.
- Nasolabial cyst in pediatric agePublication . Silva, Marta Ribeiro; Rosa, Ana Patrícia; Miranda, Daniel; Costa Alves, ManuelaHerein is described the case of a 26-month-old male observed in the Emergency Department for edema of the upper lip and left malar region with less than 24 hours of evolution and progressive worsening. No other associated complaints, previous history of trauma, or insect sting were reported. Computed tomography revealed a “left premaxillary abscess associated with ipsilateral nasogenian phlegm”. Intravenous antibiotic therapy with clarithromycin and clindamycin and systemic corticosteroid therapy with dexamethasone were started, and the boy was admitted to the Pediatric Department. He presented favorable clinical evolution, with complete resolution of inflammatory signs. At discharge, the patient remained asymptomatic and was referred to Otorhinolaryngology consultation for follow-up. Although nasolabial cysts are rare in pediatric age, this case intends to raise awareness of the condition, enabling its recognition by clinicians, and increase knowledge about its course and treatment.
- Needs and concerns of siblings in pediatric palliative care: scoping reviewPublication . da Martins Silva, FilipaIntroduction: Understanding the needs of each family member in the setting of Pediatric Palliative Care is crucial. Sibling support is still an emerging area, with recommendations based on clinical experience and adaptation from other contexts. The aim of this study was to assess and describe the needs and concerns of siblings of children in Pediatric Palliative Care. Methods: A literature search was conducted in Medline database. Only research articles with reports of siblings of children in Palliative Care were included. The main characteristics and results of studies included were summarized, and a narrative synthesis was performed. Results: Nine studies were included showing that, although siblings’ needs vary over the course of the disease, these generally include the need for self-support, access to information, and engagement in brother/sister care. Bereaved siblings are usually resilient, but poor-quality support can have a negative psychosocial impact. Discussion and Conclusion: Siblings need informational, instrumental, appraisal, and emotional support. Quantitative prospective studies are needed, as well as accurate clinical practice recommendations taking into account the specificities of each child, family, and sibling.
- 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.
- Dravet Syndrome − experience of a Neuropediatric UnitPublication . Figueiredo Costa, Marcos; Rocha, Ruben; Baptista, Cristina Freitas; Santos, Manuela; Figueiroa, Sónia; Carrilho, Inês; Temudo, TeresaIntroduction: Dravet syndrome (DS) is a rare and complex genetic epilepsy syndrome. The first seizures are generally induced by fever in the first year of life of a previously healthy child, and the condition is typically associated with impaired psychomotor development. The authors present a clinical review of DS patients followed at a Neuropediatric Unit of a level III Pediatric Hospital. Material and methods: Retrospective study of pediatric patients with DS followed at a Neuropediatric Unit between 2001 and 2019. Results: Twenty-two patients were diagnosed and followed in this institution. The median (interquartile range [IQR]) age at first seizure was 4.5 (4-5.75) months, which was described as generalized tonic-clonic, focal seizure, or focal to bilateral tonic-clonic seizure, and 95% of patients had fever during this first episode. Neuroimaging and first electroencephalogram (EEG) were normal in all patients. SCN1A gene mutations were detected in 21 (95%) patients. All patients underwent multiple antiepileptic drug (AED) regimens. Psychomotor development was delayed in 20 (91%) patients, and 13 (59%) presented ataxia. At the end of follow-up, the median (IQR) age was 19 (8-23) years, with no reported deaths. Discussion: The characteristics of the first DS seizures are crucial for diagnosis, which can be supported by genetic sequencing, with most patients presenting an SCN1A gene mutation. Neuroimaging and EEG are typically normal at disease onset, but most patients present EEG abnormalities over time. Seizure management can be challenging, requiring a combination of multiple AEDs. Conclusion: DS is a progressive disease associated with poor cognitive and motor skill outcomes, resulting in great morbidity. Early diagnosis can help avoid unnecessary studies, optimize the therapeutic strategy, allow genetic counseling, and improve long-term outcomes.
- Orbital complications in pediatric acute sinusitis: eight-year experiencePublication . Neves, João Fonseca; Simões, João Filipe; Paiva, Sofia; Maricato, Felisberto; Silva, Luís FilipeObjectives: Acute sinusitis accounts for up to 82% of orbital infection cases. Infection spreads very quickly, especially through the ethmoid sinus, and orbital complications may arise even under antibiotic therapy. The aim of this study was to describe an 8-year hospital experience with these children. Methods: All cases of acute sinusitis with orbital complications admitted to the Department of Otorhinolaryngology of Centro Hospitalar e Universitário de Coimbra between 2010 and 2017 were retrospectively reviewed. Results: Sixty-four patients met the inclusion criteria, with a mean age of 9 ± 4.7 years. Male:female ratio was 1.67:1. Most subjects were admitted in the winter period (57.8%), with 2.9 ± 2.5 days of clinical evolution. The mean Lund Mackay score was 10.6 ± 4.9, with maxillary and ethmoid being the most prevalent involved sinuses (96.4% and 94.6%, respectively), and was inversely correlated with age (p<0.05). Preseptal cellulitis was the most common complication (56.3%). Abscesses were identified in 18.7% of patients, but only four (6.25%) required surgery. Seven cases (10.9%) recurred shortly after hospital discharge and required prolonged antibiotic course. All patients recovered well, without further complications. Conclusion: Results showed that orbital complications of sinusitis respond well to high doses of endovenous antibiotherapy and patients tend to recover without local comorbidities. Close monitoring of these patients during the first months after hospital discharge is crucial to prevent early relapse.
- Misaligned shouldersPublication . Santos Silva, Íris; Correia, Aníbal; Santos, Rita; Aleixo, Catarina; Santos, MafaldaSprengel deformity is a congenital elevation of the scapula. Herein is reported the case of a child with the right scapula at a higher level compared to the left and limited abduction of the right shoulder. Other pathoanatomical anomalies can be associated. Treatment is usually conservative, since surgery is only considered in patients with severe scapular function limitation, neck pain, or to improve cosmesis.