RESUMO
Beckwith-Wiedemann syndrome (BWS) is a rare congenital condition characterized by complex overgrowth of different body parts. Children with Beckwith-Wiedemann syndrome, particularly those with hemihypertrophy, experience an increased risk of developing benign and malignant tumors. This case report presents an 18-month-old girl with features suggestive of Beckwith-Wiedemann syndrome who developed pubic hair, high levels of testosterone, and DHEAS with normal cortisol and progesterone levels. Computed tomography revealed a left adrenal mass. Histopathological examination of the resected mass showed an adrenocortical tumor. Her postoperative evaluation showed normal testosterone and DHEAS levels. Early diagnosis and detection of intra-abdominal neoplasms in infants with Beckwith-Wiedemann syndrome are essential to avoid serious clinical complications.
RESUMO
BACKGROUND: Non-Hodgkin lymphoma is the fourth most common malignancy in children, and it is not considered to be a hereditary disorder. However, it could affect members from the same family. CASE PRESENTATION: We are presenting two cases of Caucasian female siblings who were diagnosed with mediastinal lymphoblastic lymphoma in the same year. The two young females were presented to the emergency department with respiratory symptoms. After doing radiological investigations and biopsies, they were diagnosed with lymphoblastic lymphoma. The elder sister died before confirming the diagnosis, and the other is on chemotherapy now, with good treatment outcomes. CONCLUSIONS: This case emphasizes the crucial role of precursor genetics in lymphoblastic lymphomas and suggests a strong relation between these genetics and age at symptom presentation. This is the first report of non-Hodgkin lymphoma in a pair of siblings in the pediatric population.
Assuntos
Linfoma não Hodgkin , Linfoma , Neoplasias do Mediastino , Leucemia-Linfoma Linfoblástico de Células Precursoras , Pré-Escolar , Feminino , Humanos , Lactente , Linfoma não Hodgkin/diagnóstico , Linfoma não Hodgkin/tratamento farmacológico , Linfoma não Hodgkin/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , IrmãosRESUMO
Coeliac disease (CD) and cystic fibrosis (CF) are well known as the most common causes of chronic intestinal malabsorption in childhood. The coexistence of coeliac disease with cystic fibrosis is uncommon. Here, we describe the case of cystic fibrosis in a patient diagnosed with coeliac disease who failed to respond clinically to a gluten-free diet and had persistent steatorrhea and failure to thrive.
RESUMO
Vomiting is a common symptom of a multitude of diseases in children. It is usually part of benign illness and can occur at any age. Recurrent vomiting can be a symptom of life-threatening medical or surgical emergencies. It can be rarely caused by an extraluminal pyloric duplication cyst. Early recognition is essential for preventing delays in management and potential complications. Here we report a case of an extraluminal pyloric duplication presenting as progressive gastric outlet obstruction cyst in a 14-month-old Syrian boy. The diagnosis was made through abdominal ultrasound, gastrointestinal endoscopy and abdominal computed tomography scan.
