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Hyperinsulinism

OVERVIEW: What every practitioner needs to know about hyperinsulinemic hypoglycemia in neonates and children Are you sure your patient has hyperinsulinism? What are the typical findings for this disease? Hyperinsulinism is the most common hypoglycemic disorder in infants and neonates. Transient neonatal hyperinsulinism is common due to perinatal stress, including birth asphyxia, preeclampsia, and intrauterine…

Diabetic ketoacidosis/cerebral edema

OVERVIEW: What every practitioner needs to know Are you sure your patient has diabetic ketoacidosis–related cerebral edema? What are the typical findings for this disease? Cerebral edema is a potentially life-threatening complication of diabetic ketoacidosis (DKA) and is responsible for the majority of diabetes-related deaths in children. Cerebral edema typically occurs after several hours of…

The Infant with Ambiguous Genitalia

OVERVIEW: What every practitioner needs to know Ambiguous genitalia is considered an emergency from a medical as well as a psychological standpoint. Medically, the rationale for this is that congenital adrenal hyperplasia (CAH) is one of the most common causes of ambiguous genitalia and, if present, would put an infant at risk for an adrenal…

Hypercalcemia

Overview: What every practitioner needs to know Are you sure your patient has hypercalcemia? What are the typical findings for this disease? Hypercalcemia with a very low serum phosphate concentration suggests the diagnosis of primary hyperparathyroidism. In infants, hyperparathyroidism may result from unrecognized maternal hypoparathyroidism or pseudohypoparathyroidism. Neonatal severe hyperparathyroidism (NSHPT) is a form of…

Myxedema coma

OVERVIEW: What every practitioner needs to know Are you sure your patient has myxedema coma? What are the typical findings for this disease? Myxedema coma occurs in patients with long-standing hypothyroidism and a precipitating stressful event. It is rare in children. The most common precipitating event is an infection, but it can occur following trauma,…

Thyrotoxicosis/thyroid storm

OVERVIEW: What every practitioner needs to know Thyroid storm is a rare disorder in children characterized by severe manifestations of thyrotoxicosis, but in addition, usual features include hyperthermia and altered mental status, ranging from agitation or delirium to extreme lethargy or coma, and, rarely, seizures. Presentation is usually triggered by a precipitating event, such as…

Familial Mediterranean Fever (FMF)

OVERVIEW: What every practitioner needs to know Are you sure your patient has Familial Mediterranean Fever? What are the typical findings for this disease? Familial Mediterranean fever (FMF) is the most common inherited periodic fever syndrome and predominantly affects people of Mediterranean origin. FMF is characterized by lifelong recurrent episodes of fever and illness due…

Hodgkin lymphoma

Hodgkin lymphoma What every physician needs to know: Hodgkin lymphoma (HL) is divided into two subgroups, including classical HL (CHL) and nodular lymphocyte predominant Hodgkin lymphoma (NLPHL). While classical HL is divided into four distinct entities: nodular sclerosis, mixed cellularity, lymphocyte-rich, and lymphocyte-depleted, the subtypes have little prognostic significance with current therapies. However, differentiating between…

Fanconi anemia

Fanconi anemia What every physician needs to know: Fanconi anemia is a recessively inherited disorder classically characterized by bone marrow failure, congenital anomalies, and cancer predisposition. Malignancies typically include acute myelogenous leukemia, squamous cell carcinoma (oral, esophageal, vulvar), and liver adenomas or hepatocellular carcinomas. The clinical phenotype of Fanconi anemia is broad. The absence of…

Acute myeloid leukemia

Acute myeloid leukemia What every physician needs to know: Acute myeloid leukemia (AML) is a cancer of blood forming cells. Many principles of cancer therapy have been developed in the context of treating AML, making it a paradigm for cancer chemotherapy. Ready access to tumor tissue (the malignant cells circulating in blood) has allowed tumor…

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