Fatty Acid Metabolic Disorders
Fatty Acid Metabolic Disorders Monica P. Revelo, MD, PhD Dylan V. Miller, MD Key Facts Terminology Inherited disorders due to defects in mitochondrial fatty-acid β-oxidation pathways; there are at least…
Fatty Acid Metabolic Disorders Monica P. Revelo, MD, PhD Dylan V. Miller, MD Key Facts Terminology Inherited disorders due to defects in mitochondrial fatty-acid β-oxidation pathways; there are at least…
Interstitial Pulmonary Emphysema Larissa V. Furtado, MD Angelica R. Putnam, MD Key Facts Clinical Issues Most commonly occurs in premature infants with respiratory distress syndrome treated with assisted ventilated Interstitial…
Persistent Pulmonary Hypertension Larissa V. Furtado, MD Key Facts Terminology Persistent pulmonary hypertension of newborn (PPHN) Etiology/Pathogenesis Failure of pulmonary circulation to transition from a high- to low-pressure system at…
Aspiration Monica P. Revelo, MD, PhD Brandon T. Larsen, MD, PhD Key Facts Terminology Entry of particulate matter, fluid, or secretions from stomach, esophagus, oral cavity, nasal cavity, or oropharynx…
Diffuse Pulmonary Lymphangiomatosis Monica P. Revelo, MD, PhD Brandon T. Larsen, MD, PhD Key Facts Terminology Rare disease characterized by proliferation of lymphatic vessels and smooth muscle cells along lymphatic…
Congenital Surfactant Deficiency Billie Fyfe, MD Eileen McKay, MD Key Facts Terminology Variable patterns of acute and chronic diffuse lung disease in neonates, children, and rarely adults due to genetic…
Dyshormonogenetic Goiter Vania Nosé, MD, PhD Key Facts Terminology Familial goiter that develops from defect in the metabolism of thyroid hormone secondary to an inherited disorder Etiology/Pathogenesis Multiple inherited biochemical…
Cavernous Hemangioma Brock Kaya, MD Key Facts Terminology Angiographically occult vascular malformation composed of uniform blood vessels with fibrous walls Clinical Issues Account for 10-15% of all vascular malformations Majority…
Cat Scratch Disease Irina Margaritescu, MD, DipRCPath Bruce R. Smoller, MD Key Facts Etiology/Pathogenesis Domestic cats represent natural reservoir and vectors Cat scratch disease (CSD) is caused by Bartonella henselae…
Molluscum Contagiosum Talley Whang, MD Key Facts Etiology/Pathogenesis Caused by molluscum contagiosum viruses (poxvirus), transmitted by skin-to-skin contact Clinical Issues Primarily affects young children; also affects immunosuppressed individuals Dome-shaped papules…