Browsing by Issue Date, starting with "2020-03"
Now showing 1 - 10 of 18
Results Per Page
Sort Options
- Bilateral congenital semicircular canal malformation and hearing loss − Case reportPublication . Costa, Joana Raquel; Coutinho, Miguel Bebiano; Soares, Teresa; Almeida e Sousa, CecíliaThe main aims of this observational study were to describe a poorly characterized malformation of the inner ear termed bilateral congenital semicircular canal malformation; determine if the degree and pattern of semicircular canal dysmorphology and the presence or absence of a well-formed cochlea predict audiological outcomes, type, and severity of congenital hearing loss; and investigate its relationship with known syndromic forms of hearing loss. Review of eight cases of hearing loss with radiographic evidence of congenital semicircular canal malformation was performed. Information was collected on clinical history, physical examination, computed tomography study and serial audiograms for all patients. Analyzed features included other syndrome-characteristic phenotypic dysmorphologies, audiometric configuration, severity and type of hearing loss, type of audiological rehabilitation, and presence of associated inner ear abnormalities besides those in the vestibular system. Among the eight cases included in the study, six patients had recognized syndromes/chromosomal abnormalities. Hearing loss was moderate to profound in all cases. All patients had bilateral semicircular canal deformities, with usually identical anatomical pattern on each side. Of the eight cases, six had normal cochlear development; malformations in the tympanic membrane and external auditory canal were only found in one; changes in ossicular chain were found in three patients; vestibules and vestibular aqueduct were normal in most cases; and abnormalities of oval window development and hypoplasia were found in two cases. The present study shows that a correlation between the severity and type of hearing loss and radiographic abnormalities is difficult to establish. Hearing loss associated with semicircular canal dysplasia is more likely due to anomalous membranous labyrinth development, which is not radiologically detectable by computerized tomography scan.
- Imaging clinical casePublication . Batista, Ana Rita; Valpaços, Catarina; Sousa, Pedro; Costa, Teresa; Mota, Conceição; Reis, Armando; Faria, Maria Do SameiroHere in is reported the case of a 16-year-old female diagnosed with vitreous haemorrhage and hemangioblastoma of the retina, referred to the Emergency Department due to sudden vision loss. Brain and pelvic magnetic resonance imaging showed cerebellar hemangioblastomas and renal nodular lesions of suspicious nature. The patient was submitted to partial left nephrectomy and histological examination revealed papillary renal cell carcinoma with clear-cell predominance. Clinical diagnosis of Von Hippel-Lindau (VHL) disease was confirmed by genetic study. VHL disease is a hereditary, autosomal dominant syndrome of multiple neoplasms caused by germline mutations in VHL tumor-suppressor gene. Patients are predisposed to development of cysts and hypervascular neoplasms, the most common being hemangioblastomas of the central nervous system (CNS) and retina, cysts and renal cell carcinomas, and pheochromocytomas. VHL diagnosis should be suspected if an individual with family history of VHL presents with a characteristic disease lesion or, in absence of family history of VHL, with two CNS and/or retinal hemangioblastomas or a CNS/retinal hemangioblastoma associated with renal cell carcinoma, pheochromocytoma, pancreatic cysts or endocrine tumor, or epididymal cystadenoma. In VHL disease, imaging plays a key role in detection of abnormalities, follow-up, and screening of asymptomatic mutated gene carriers.
- Treatment interruption in small for age term-born childrenPublication . Cominato, Louise; Frascino, AlexandreSmall-for-gestational-age children have been associated with up to 20% delayed growth and delayed development, increased childhood morbimortality, and poor quality of life. Prepubertal growth hormone administration results in increased growth and musculoskeletal development. The present case report illustrates the negative impact of growth hormone disruption in a 6-year-old patient, resulting in impaired growth and development. Close clinical and laboratory monitoring is recommended for small-for-gestational-age children receiving growth hormone treatment, and family counselling should be encouraged.
- Cardiovascular care in cancer patientsPublication . Álvares, Sílvia
- Ultrasound relevance in prenatal diagnosis of VACTERL association – Two clinical casesPublication . Felix, Joana; Moreira Barros, Joana; Soares, Ana Rita; Soares, Fatima; Nogueira, Rosete; Silva, Pedro TiagoVATER is a nonrandom association of congenital defects with common developmental pathogenesis including/which includes malformations like vertebral defects, anal atresia or imperforate anus, tracheoesophageal fistula with esophageal atresia, and radial or renal dysplasia. VATER acronym was initially used to describe this association, but other malformations, like cardiac defects and limb anomalies, were later also considered cardinal features and included, changing the acronym to VACTERL. Although few cases have been reported, VATER/VACTERL spectrum association can be detected in first-trimester ultrasound. Herein, the authors describe two cases of VATER/VACTERL association suspected during the 12-week ultrasound and confirmed in anatomopathological study. Prenatal VACTERL association diagnosis is challenging and rarely detected in the first pregnancy trimester. It requires skill and experience to interpret ultrasound findings and some features are difficult to recognize before birth. Early diagnosis is important for parental counselling and delivery planning. Management options include medical pregnancy termination and delivery in a tertiary center to improve outcomes.
- Dermatology clinical casePublication . Vilela Oliveira, Raquel; Bordalo, Diana; Carvalho, Sónia; Fonseca, PaulaA previously healthy 15-year-old girl was sent to the Pediatric Emergency Department by the general practitioner due to suspicion of a hematological condition. The girl presented with ecchymotic lesions on the anterior region of the thorax and antero-proximal region of the upper limbs, which had apparently worsened in the last 24 hours. She denied trauma or impact sports, fever or recent infections, and blood loss or other symptoms. Laboratory evaluation showed no alterations and urine toxicology screening was negative. When confronted with normal laboratory evaluation, the girl confessed intentional self-inflicted injuries following a discussion with her mother. Parents were made aware of the situation, and a pediatric psychiatry consultation was recommended. After discharge, follow-up in the girl’s home country was assured. With this report, the author intend to raise awareness of the importance of maintaining a high index of suspicion to non-suicidal self-injury, identifying alarm signs and establishing early preventive strategies.
- Pediatric bacillary pulmonary tuberculosis – Case reportPublication . Lomba, Andreia; Ferraz, Ana; Silva, Sónia Regina; Flores, Maria Manuel; Alcina, SaraivaChildren are more susceptible than adults to development of tuberculosis after exposure to active disease, hence screening and chemoprophylaxis are particularly important. Although Portugal is considered to have a low burden of tuberculosis, educating the population on the importance of screening and treatment is vital to decrease the number of cases. Herein is reported the case of an 11-year-old girl with previous contact with active tuberculosis who was lost to follow-up and later diagnosed with bacillary pulmonary tuberculosis.
- Insulin-induced edema in a pediatric patient – Clinical casePublication . Ferraz de Liz, Catarina; Cunha, Joaquim; Lira, SusanaIntroduction: Insulin edema is a rare condition associated with improved glycemic control shortly after diabetes diagnosis or following a period of insulin omission. Clinical findings range from mild edema to severe heart failure and pleural effusion. Diagnosis is clinical and other edema causes should be excluded. Since it is a self-limited condition, there is no need to modify insulin regimen. In more severe cases, diuretic therapy may be required. Clinical case: A 14-year-old female was brought to the Emergency Department due to weight gain and leg swelling with three days of evolution. She had been diagnosed with type 1 diabetes at the age of nine. The girl had poor metabolic control which led to multiple hospitalizations, the last one occurring the week before with a glycated hemoglobin higher than 15%. In physical examination, lower limb edema and a 7-kg weight gain were noted. No jugular vein distension, hepatomegaly, or other forms of edema were found. The girl was hemodynamically stable, with diuresis within the normal range. Analytical study consisting of hemogram, ionogram (sodium and potassium), and renal and hepatic function was normal. Urine analysis revealed glycosuria and chest x-ray showed no abnormalities. The diagnosis of insulin-induced edema was established and water and saline restriction recommended, with total symptom resolution three weeks later. Conclusion: Despite rare, clinicians should be aware of this condition, as most cases do not require modifying the insulin regimen.
- 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.
- Effectiveness of Tocilizumab in the Treatment of Fasciitis with Eosinophilia: Two Case ReportsPublication . Pinheiro, Maria Guiomar; Costa, Ana Rita; Campar, Ana; Mendonça, TeresaFasciitis with eosinophilia (FE) is a rare connective tissue disease. Due to its rarity, large-scale studies are lacking, which makes its treatment challenging. Systemic corticosteroids (SCSs) are the cornerstone of treatment; however, additional immunosuppressive drugs (ISDs) are frequently necessary (usually methotrexate). We report 2 patients, for whom an SCS and methotrexate were not a viable long-term option. In the first case, we were unable to taper the SCS dose without symptom relapse, the patient showed only a partial response to methotrexate and presented side effects. The second case never fully responded to the SCS and methotrexate and demonstrated serious SCS adverse effects. Both patients were started on tocilizumab with extremely favourable results, making this drug a potential therapeutic weapon for these patients. Learning points: The treatment of FE is challenging and mainly based on retrospective reviews, open-label trials and case reports, all of which included a small number of patients.Currently, systemic corticosteroids are the mainstay of treatment; however, other ISDs are frequently necessary.Cases showing a favourable clinical response to tocilizumab have recently been described in patients with corticosteroid-refractory disease, suggesting that this drug may potentially become a therapeutic weapon for these patients.