12 documents found, page 1 of 2
An Hypothalamic Hamartoma Presenting as Gelastic Epilepsy: When it Goes Unnoticed
Oliveira Pereira, Mariana; Barros Azevedo, Catarina; Fonseca , Jacinta; Melo, Cláudia; Meireles, Carla; Magalhães, CatarinaA 5-year-old boy presented with episodes of ocular retroversion occurring over the past 4 weeks. Further investigation revealed frequent bilateral epileptiform frontal activity on electroencephalogram and a nodular formation in the hypothalamus on cerebral computed tomography scan. Magnetic resonance imaging characterized the lesion as a hamartoma of the tuber cinereum. After questioning, episodes of unprovoked...
Genetic Architecture of Congenital Hypogonadotropic Hypogonadism: Insights from...
Carriço, Josianne Nunes; Gonçalves, Catarina Inês; Al-Naama, Asma; Syed, Najeeb; Aragüés, José Maria; Bastos, Margarida; Fonseca, FernandoStudy question: What is the contribution of genetic defects in Portuguese patients with congenital hypogonadotropic hypogonadism (CHH)? Summary answer: Approximately one-third of patients with CHH were found to have a genetic cause for their disorder, with causal pathogenic and likely pathogenic germline variants distributed among 10 different genes; cases of oligogenic inheritance were also included. What is k...
Severe multifocal alopecia areata − An imaging case report
Correia de Oliveira, Susana; Sousa, Patrícia; Pereira, Cecília; Meireles, CarlaThe authors report a severe case of a common disorder in a healthy eight-year-old male child. The boy was observed for asymptomatic hair loss with seven months of evolution that greatly disrupted his life and caused him to wear a hat at all times. Alopecia areata was diagnosed, and the boy underwent four years of multiple treatments before achieving full hair regrowth. It should be noted that alopecia areata ca...
Acute abdominal pain in a 13-year-old female adolescent
Cunha, Sara Monteiro; Leite, Sara; Vasconcelos, Sofia; Meireles, Carla; Gonzaga, Luís; Simão, Teresa SãoIntroduction: Ovarian torsion can occur at any pediatric age, mainly between the ages of 9 and 14 years. Diagnosis is challenging, as symptoms are nonspecific, misleading to other more common diagnoses, as genitourinary and gastrointestinal disorders. In children, ovarian lesions leading to torsion are typically benign and cystic. Surgical approach is safe, as most cases of early torsed ovary untwisting exhibit...
Quality of life of adolescents with type 1 diabetes mellitus
Vasconcelos, Sofia; Cunha, Sara Monteiro; Rebelo, Alícia; Ferreira, Carla; Meireles, Carla; Dias, ÂngelaIntroduction: Type 1 diabetes mellitus is one of the most common endocrine-metabolic disorders of childhood and adolescence and requires a continuous and rigorous therapeutic approach, with recognized impact on children and adolescents’ quality of life. The purpose of this study was to evaluate the quality of life of adolescents with type 1 diabetes mellitus and its relationship with clinical and laboratory asp...
Quality of life of adolescents with type 1 diabetes mellitus
Vasconcelos, Sofia; Monteiro Cunha, Sara; Rebelo, Alícia; Ferreira, Carla; Meireles, Carla; Dias, ÂngelaIntroduction: Type 1 diabetes mellitus is one of the most common endocrine-metabolic disorders of childhood and adolescence and requires a continuous and rigorous therapeutic approach, with recognized impact on children and adolescents’ quality of life. The purpose of this study was to evaluate the quality of life of adolescents with type 1 diabetes mellitus and its relationship with clinical and laboratory asp...
Acute abdominal pain in a 13-year-old female adolescent
Monteiro Cunha, Sara; Leite, Sara; Vasconcelos, Sofia; Meireles, Carla; Gonzaga, Luís; São Simão, TeresaIntroduction: Ovarian torsion can occur at any pediatric age, mainly between the ages of 9 and 14 years. Diagnosis is challenging, as symptoms are nonspecific, misleading to other more common diagnoses, as genitourinary and gastrointestinal disorders. In children, ovarian lesions leading to torsion are typically benign and cystic. Surgical approach is safe, as most cases of early torsed ovary untwisting exhibit...
Type 1 Diabetes Mellitus presenting as neurodevelopmental impairment
Alves, Marta Faria; Costeira, Mónica; Ferreira, Joana da Silva; Soares, Susana; Magalhães, Catarina; Meireles, CarlaIntroduction: Type 1 Diabetes Mellitus is one of the most prevalent chronic diseases in childhood and adolescence. Disease presentation is diverse, depending on the duration of symptoms and the age of onset. Case report: A 30-month-old child was referred to the Paediatric Outpatient Clinic for loss of cognitive and behavioural skills and stagnation of motor abilities occurring in the last six months, weight los...
Síndrome do Ovário Poliquístico na adolescência
Baptista, Diana; Vieira, Maria João; Meireles, CarlaIntrodução:A Síndrome do Ovário Poliquístico é a endocrinopatia mais frequente nas mulheres em idade reprodutiva. As manifestações começam habitualmente durante a adolescência; porém o diagnóstico nesta faixa etária é dificultado pela sobreposição das características da síndrome e os achados fisiológicos observados durante a progressão normal da puberdade. Objetivos:Rever a abordagem diagnóstica e terapêutica d...
Atraso pubertário: um diagnóstico tardio
Ferreira, Helena; Gonçalves, Tiago Cúrdia; Moreira, Maria João; Laranjeira, Carla; Meireles, CarlaIntrodução: O atraso pubertário é uma patologia frequente na consulta de Endocrinologia. Várias doenças podem estar subjacentes a este problema, sendo a doença inflamatória intestinal, mais concretamente a doença de Crohn, uma das doenças crónicas mais associadas. Caso clínico: Adolescente, sexo feminino, de 16 anos, sem antecedentes patológicos relevantes, referenciada à consulta de Pediatria por atraso pubert...