Sofia A. Martins

Hospital Braga · Department of Pediatrics

Objectives − This study aims to compare the clinical and analytical presentation of Central precocious puberty (CPP), considering age.Methods − An observational, cross-sectional study was conducted on children diagnosed with CPP at a level III hospital, between January 2002 and April 2022. Clinical, auxological, sociodemographic, laboratory, and im...

Introduction: Type 1 diabetes is a chronic disease characterized by a selective loss of pancreatic β-cells with a disproportionate recent increase at ages under 5-years old. Its etiology is multifactorial, to which immune factors contribute through pancreatic autoantibodies. Our main aim is to assess whether the type of pancreatic autoantibody infl...

Type 1 pseudohypoaldosteronism (PHA-1) is a rare genetic syndrome of unresponsiveness to aldosterone and presents in the neonatal period with hyperkalemia, hyponatremia and metabolic acidosis. The mortality rate can be high and multidisciplinary team is needed for optimal management and adequate growth and development of these patients. Many genoty...

Objective: Evaluate the celiac disease (CD) markers, within the scope of its screening, in a pediatric population with diagnosis of type 1 diabetes (T1D) at Hospital de Braga (HB) and determine the prevalence of CD in the sample. Reflect on CD screening algorithm applied in this pediatric population. Methods: Retrospective observational study wi...

Introduction The prevalence of neonatal hyperthyroidism (HN) due to maternal Graves Disease (GD) ranges from 0.1 to 2.7%. It may occur in pregnant women with the following: active DG, after treatment with radioactive iodine, anti-thyroid or thyroidectomy or with a previous child with hyperthyroidism. The aim of our observational study was to evalua...

Introduction The prevalence of neonatal hyperthyroidism (HN) due to maternal Graves Disease (GD) ranges from 0.1 to 2.7%. It may occur in pregnant women with the following: active DG, after treatment with radioactive iodine, anti-thyroid or thyroidectomy or with a previous child with hyperthyroidism. The aim of our observational study was to evalua...

Congenital hypogonadotropic hypogonadism (CHH) is characterized by lack of normal pubertal development due to deficient gonadotropin-releasing hormone (GnRH) secretion or action, and is caused by genetic defects in several genes. Mutations in the CHD7 gene cause CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardatio...

Background Venous thromboembolism (VTE) – which includes deep venous thrombosis (DVT) and pulmonary embolism (PE) – has been increasingly recognized in the pediatric population. The estimated incidence is 0.07–0.14 cases per 10,000 children. Most cases are associated with two or more risk factors. Medium and long-term complications include recurren...

Introduction: The ideal management of subclinical hypothyroidism, particularly the mild form, remains unclear. Our objectives were to describe the clinical management of subclinical hypothyroidism in children and adolescents and the natural course of the disease with conservative management. Material and Methods: We retrospectively analyzed clinica...

The authors report a case of a 15-year-old girl with hypopituitarism due to pituitary stalk interruption syndrome diagnosed in the neonatal period. The patient was admitted to the emergency room with impaired consciousness and hypoglycaemia. The day before, she increased her water intake to about 1.5 L to perform a pelvic ultrasound. In the followi...

Introduction: The ideal management of subclinical hypothyroidism, particularly the mild form, remains unclear. Our objectives were to describe the clinical management of subclinical hypothyroidism in children and adolescents and the natural course of the disease with conservative management. Material and Methods: We retrospectively analyzed clinica...

Background: Children and adolescents spend several hours watching television, playing video games and surfing the internet. Benefits of media are vast, but potential risks exist. Objectives: Determine the patterns of media exposure in a population of children and adolescents. Methods: This is a cross-sectional, observational and analytic study. We...

Introdução: A diabetes mellitus tipo 1 (DM1) manifesta-se tipicamente na infância e adolescência, sendo caracterizada pela dependência absoluta de administração exógena de insulina. Pretendeu-se avaliar a qualidade de vida das crianças e adolescentes com DM1 e sistema de infusão subcutânea contínua de insulina em comparação com aquelas em regime de...

Cowden syndrome (CS) is a rare dominantly inherited multisystem disorder, characterized by an extraordinary malignant potential. In 80% of cases, the human tumor suppressor gene phosphatase and tensin homolog (PTEN) is mutated. We present a case of a 17-year-old boy with genetically confirmed CS and Graves’ disease (GD). At the age of 15, he presen...

Introduction: Hypopituitarism is characterized by failure of the pituitary hormone secretion. Clinical presentation is variable and depends on the etiology, evolution and hormonal deficits. Case: A 2 year-old male child was brought to the emergency room due to sudden change of consciousness. In the neonatal period, he presented with hypoglycemia, t...

Introduction: Spontaneous pneumomediastinum (SP) results from nontraumatic mediastinal air leakage. It is uncommon in children requiring a high index of suspicion. Case Report: A 17-year-old tall thin boy, light smoker, with no history of trauma or lung disease presented to our emergency room with symptoms dominated by chest pain and mild dyspnea....

Introdução: As crianças/adolescentes passam horas a ver televisão, jogar videojogos e navegar na internet. Os benefícios dos media são vastos, mas existem potenciais riscos. Objetivos: Conhecer a situação de uma amostra de crianças/ adolescentes quanto à sua exposição aos media. Material e Métodos: Realizado um estudo transversal, observacional e a...

Introduction: Toilet training is an important stage in child development. There are few studies and guidelines and our bibliographic research found no national epidemiological data on this subject. The aim of the present study was to determine the patterns of toilet training in a Portuguese population, the factors that may be related to its timing...

Introduction: Cushing’s disease (CD) is rare in children. It’s most common clinical manifestations are growth retardation, changes in pubertal development and weight gain. The diagnosis, based on clinical suspicion, is often hampered by the non identification of the microadenoma in MRI. Clinical history: A 14-year-old male patient, with short statu...

International Journal of Case Reports and Images (IJCRI) is an international, peer reviewed, monthly, open access, online journal, publishing high-quality, articles in all areas of basic medical sciences and clinical specialties. Aim of IJCRI is to encourage the publication of new information by providing a platform for reporting of unique, unusual...

Background/objective: Mauriac syndrome (MS) is a rare complication of type 1 diabetes mellitus (DM1). It is related to low insulin concentrations and is less common since longer-acting insulins became available. It is characterized by hepatomegaly, growth and puberty delay, and the presence of elevated transaminases and serum lipids. The aim of th...

Introduction Cat scratch disease(CSD) is caused by Bartonella henselae(BH). Regional lymphadenopathy, located to the neck and/or axilla, is the hallmark of CSD. Case Description A 17-year-old girl presented with a painful right inguinal swelling for the past 3 weeks. Cited contact with small cats. Presented objectively bilateral inguinal lymph node...

Background The segmental spinal cord syndrome is defined clinically as a neurological injury (incomplete or complete) sensory, motor and autonomic. Results 13 year old female, previously healthy with a sudden onset of severe pain in the inferior limbs, with loss of strength and sensitivity. No history of fever, recent trauma, infection, vaccination...

Background Miliary tuberculosis (MT) refers to clinical disease resulting from lymphohematogenous dissemination of Mycobacterium tuberculosis. It affects primarily younger and immunocompromised children. Clinical presentation is highly variable and multiorgan involvement is common. Clinical Case A nine-year Gypsy girl with a mild development delay...

To describe clinical presentation, preoperative study, intervention, histology, surgical complications and follow-up characteristics, and survival in patients with thyroid carcinoma (TC) with less than 18 years at presentation. retrospective analysis of clinical data of all children and adolescents followed in S. João Hospital from January 1, 2000...

Acute appendicitis (AA) is the leading cause of emergency abdominal surgery in children. The diagnosis is essentially clinical, but some methodologies, such as Alvarado score (AS), have been developed in order to avoid non-therapeutic laparotomy (15-30%). AS ≥ 5 or 6 is compatible with AA and is an indication for the patient to remain on observatio...