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Recurrent fevers and failure to thrive in an infant
David R Scott1, Sarah Chan, Johanna Chang
1Scripps Clinic, Department of Medicine, San Diego, CA 92130, USA. deardrscott@gmail.com
Allergy and Asthma Proceedings
|September 4, 2013
Summary
This case study details a young boy with recurrent fevers, arthritis, and diarrhea, highlighting a rare immunodeficiency. Early diagnosis and treatment are crucial for managing complex pediatric inflammatory conditions.
Area of Science:
- Pediatric immunology
- Clinical genetics
- Infectious diseases
Background:
- Recurrent fevers, arthritis, and failure to thrive in infants can indicate underlying immune system dysfunction.
- Consanguinity and geographic origin (India) may suggest specific genetic predispositions.
Observation:
- A 2-year-old boy presented with oral ulcers, lymphadenopathy, chronic diarrhea, developmental delay, and polyarticular arthritis.
- Herpes simplex virus 1 viremia and osteopenia with joint erosions were identified.
Findings:
- The patient exhibited symptoms suggestive of a primary immunodeficiency disorder.
- Comprehensive immunologic and genetic evaluations were performed to identify the specific condition.
Implications:
- This case underscores the importance of a thorough diagnostic approach for infants with complex, recurrent symptoms.
- Understanding the immunologic and genetic basis is key for effective therapeutic strategies in pediatric inflammatory diseases.
Related Concept Videos
Patterns of Fever
Before understanding the types and patterns of fever, it is essential to know its phases.
Increased Body Temperature
A body temperature above 38°C (100.4 °F) is known as fever or pyrexia, and a person with fever is termed 'febrile.' Typically, the hypothalamus, a part of the brain that acts as the body's thermostat, regulates body temperature through a thermoregulatory setpoint. It receives signals from cold and warm thermal receptors throughout the body and adjusts the body's temperature accordingly. Fever occurs when this hypothalamic setpoint is altered, usually in response to an infection or illness.
Types of Fever
Fever can be triggered by several factors, including infections, nervous system disorders, certain cancers, blood diseases like leukemia, embolism, thrombosis, heatstroke, dehydration, surgical trauma, crushing injuries, and allergic reactions.
Here are the different types of fever:
Here are the different types of fever:
Inborn Errors of Metabolism
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Methods of reducing fever
The signs and symptoms of fever include hot and dry skin, flushed face, thirst, muscle aches, anorexia, headache, tachycardia, tachypnea, and fatigue. Elevated body temperature is reduced using two methods: pharmacological and nonpharmacological. Proper identification and treatment of the root cause of a fever is of utmost importance.
Pharmacological Methods of Reducing Fever:
Pharmacological Methods of Reducing Fever:
Development of Immunocompetence
The initiation of cell-mediated immunity can be observed as early as the third month of fetal growth, with active antibody-mediated immunity following approximately one month later.
The initial cells that migrate from the fetal thymus settle within the skin and epithelial tissues lining the mouth, digestive tract, and in females, the uterus and vagina. These cells, including skin-based dendritic cells, serve as antigen-presenting cells, playing a key role in T cell activation.
Subsequent T...
The initial cells that migrate from the fetal thymus settle within the skin and epithelial tissues lining the mouth, digestive tract, and in females, the uterus and vagina. These cells, including skin-based dendritic cells, serve as antigen-presenting cells, playing a key role in T cell activation.
Subsequent T...
