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Pediatrics
Bruton's Agammaglobulinemia
Pathophysiology
X-linked Recessive
Defective Bruton Tyrosine Kinase
Blocks B Cell Maturation
Signs & Symptoms
Decreased Immunoglobulins of All Classes
Bacterial Infections After Six Months
Maternal IgG Protects Before Six Months
2 mins
Age 4 Years - Developmental Milestones
Gross Motor
Hop on One Foot
Fine Motor
Copies Square
Uses Fork Well
Language
100% Speech Understandable
Identifies Colors
Social/ Cognitive
Cooperative Play
Imaginary Friends
2 mins
Age 9 Months - Developmental Milestones
Gross Motor
Pulls to Stand
Starts Cruising
Fine Motor
Three-Finger Pincer Grasp
Holds Bottle or Cup
Language
Starts Sounding "Mama" or "Dada"
Social / Cognitive
Waves Bye
Separation Anxiety
Plays Pat-A-Cake
2 mins
17 Alpha Hydroxylase Deficiency
Decreased Cortisol
Decreased Sex Hormones
Increased Mineralocorticoids (DOC)
Hypertension
Hypokalemia
XY Externally Phenotypic Female
No Internal Reproductive Structures Due to Mullerian Inhibitory Factor
Failure to Develop Third and Fourth Pharyngeal Pouches
Signs and Symptoms
Undeveloped Thymus
T Cell Deficiency
Recurrent Viral and Fungal Infections
Undeveloped Parathyroids
Hypocalcemia
Tetany
Aortic Defects
Congenital Heart Defects
Diagnosis
Absent Thymic Shadow on CXR
2 mins
Kawasaki Disease
Pathophysiology
Prevalent in Asian Children
Necrotizing Vasculitis
Signs and Symptoms
Fever
Strawberry-Red Tongue and Mucosa
Lymphadenopathy
Desquamative Skin Rash
Erythema and Edema of the Hands and Feet
Conjunctivitis
Coronary Aneurysm
Treatment
Intravenous Immunoglobulin (IVIG)
Aspirin
2 mins
Henoch-Schonlein Purpura
Most Common Childhood Vasculitis
Follows Pharyngeal or Respiratory Infection
Palpable Purpura on Legs and Buttocks
Arthralgia
Intestinal Hemorrhage
Black Stool (Melena)
Associated with IgA Nephropathy
2 mins
Coxsackievirus
Characteristics
Picornavirus
Signs and Symptoms
Coxsackie A
Febrile Pharyngitis
Hand, Foot, and Mouth Disease
Most Common Cause of Aseptic Meningitis
Late Summer
Coxsackie B
Myocarditis
Dilated Cardiomyopathy
Type 1 Diabetes
2 mins
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