Pediatrics

Pediatrics

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…

Management of Neutropenia

OVERVIEW: What every practitioner needs to know Neutropenia refers to an absolute neutrophil count (ANC) less than<1500/mm3. Under certain circumstances, the risk of bacterial infection due to neutropenia is related to the ANC but depends also upon the cause of the neutropenia. Adequacy of the marrow reserve pool is the most critical determinant of propensity…

Mycoplasma Pneumonia

OVERVIEW: What every practitioner needs to know Are you sure your patient has Mycoplasma pneumoniae infection? What are the typical findings for this disease? Mycoplasma pneumoniae is a common cause of upper respiratory tract infection, and remains the most common cause of bacterial pneumonia. The term, “walking pneumonia,” has been used to describe the usual…

Zellweger Spectrum Disorder

OVERVIEW: What every practitioner needs to know Are you sure your patient has Zellweger Spectrum Disorder? What are the typical findings for this disease? The peroxisome biogenesis disorders (PBD) include two phenotype groups: 1. Zellweger Spectrum Disorder (ZSD) a. Zellweger syndrome (ZS) = severe b. Neonatal adrenoleukodystrophy (NALD) = intermediate c. Infantile Refsum disease (IRD)…

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