Chronic Granulomatous Disease

Dec 31, 2018 by in PEDIATRICS Comments Off on Chronic Granulomatous Disease

Patient Story Print Section Listen A 4-year-old boy presents with a recent history of persistent pneumonia. A detailed past medical history reveals several recurrent infections including pneumonia and lymph node…

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Noonan Syndrome

Dec 31, 2018 by in PEDIATRICS Comments Off on Noonan Syndrome

Patient Story Print Section Listen A 3-year-old boy is brought to see his pediatrician for a health maintenance visit. During the exam, the pediatrician notes that the child’s face lacks…

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DiGeorge Syndrome

Dec 31, 2018 by in PEDIATRICS Comments Off on DiGeorge Syndrome

Patient Story Print Section Listen A newborn infant is noted to have micrognathia, a bulbous nasal tip, a crumpled ear helix (Figure 216-1), hooded eyes, a high arched palate, and…

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Primary Ciliary Dyskinesia

Dec 31, 2018 by in PEDIATRICS Comments Off on Primary Ciliary Dyskinesia

Patient Story Print Section Listen A 13-year-old boy presents for evaluation of a chronic productive cough and fever. Since birth, he has had persistent rhinitis, thick nasal drainage, and recurrent…

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Neurofibromatosis

Dec 31, 2018 by in PEDIATRICS Comments Off on Neurofibromatosis

Patient Story Print Section Listen A 12-year-old asymptomatic girl was noted to have six café-au-lait macules (Figure 206-1A) and axillary freckles (Figure 206-1B) during a general physical examination. No neurofibromas…

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Allergic Rhinitis

Dec 31, 2018 by in PEDIATRICS Comments Off on Allergic Rhinitis

Patient Story Print Section Listen A 9-year-old girl presents to her pediatrician for constant nasal congestion, runny nose, and intermittent bouts of sneezing and itching. Her symptoms occur year-round with…

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Tuberous Sclerosis

Dec 31, 2018 by in PEDIATRICS Comments Off on Tuberous Sclerosis

Patient Story Print Section Listen A 2-year-old girl was brought to her pediatrician for her well child visit. On exam, she was noted to have several hypomelanotic lesions over her…

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Sturge-Weber Syndrome

Dec 31, 2018 by in PEDIATRICS Comments Off on Sturge-Weber Syndrome

Patient Story Print Section Listen A 3-year-old girl is referred to a pediatric neurologist because of a history of developmental delay and focal seizures since birth that are no longer…

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Sickle Cell Disease

Dec 31, 2018 by in PEDIATRICS Comments Off on Sickle Cell Disease

Patient Story Print Section Listen A 4-year-old boy with known sickle cell disease is brought to the emergency department with worsening pain in his thighs, lower back, abdomen, and chest….

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Langerhans Cell Histiocytosis

Dec 31, 2018 by in PEDIATRICS Comments Off on Langerhans Cell Histiocytosis

Patient Story Print Section Listen A 3-month-old female infant presented to her pediatrician with a history of a rash that had been present from birth. Her parents report that her…

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