13 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... Signs/Symptoms ... > Neonatal and infantile ... pathophysiology #peds
Infantile Spasms 
Associated with Tuberous Sclerosis 
1) Flexor spasms: Sudden flexion of neck, trunk, arms, and
Infantile Spasms ... Clinical • ... EEG pattern Management ... seizures #Infantile ... #Spasms #Peds #
Drug Reaction with Eosinophilia and Systemic Signs (DRESS Syndrome): Formerly known as drug hypersensitivity reaction, DRESS
represents
Eosinophilia and Systemic Signs ... (DRESS Syndrome ... Images #Clinical ... #Eosinophilia #Legs ... #Photo #UCSDH
Muehrcke's Lines (Leukonychia striata)
Narrow while transverse lines (Not depressed, compared to Beau's lines). Usually 2 or
hypoalbunemia (usually less ... and nephrotic syndrome ... #PhysicalExam #Clinical ... #Photo #Sign
Myasthenia Gravis Overview

Myasthenia Gravis is an autoimmune disorder of the postsynaptic neuromuscular junction.  Ab to
weakness, arms > legs ... test - Cogan sign ... - Peek sign ... immunosuppressants - Meds ... Gravis #diagnosis #management
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
Diagnosis and Management ... renal failure Clinical ... heart (2-5%), liver ... extensor surface of legs ... #Signs #Symptoms
Vibrio Vulnificus skin infection
Cirrhosis w/recent consumption of raw oysters w/rapidly evolving rash. 
Vibrio vulnificus part of
sepsis: chronic liver ... immunosuppressive meds ... Early abx are critical ... #dermatology #legs ... #clinical #photo
Common Variable Immunodeficiency (CVID)

What?
CVID: Immunodeficiency disorder with hypogammaglobulinemia -> increased infection risk secondary to impaired B-cell
to 8 years Clinical ... disease • Liver ... unless levels are less ... : • Nephrotic syndrome ... (Epstein-Barr syndrome
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
is also a late sign ... are observed for signs ... the abdomen, the liver ... in the arms and legs ... #Examination #Peds
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... syndrome associated ... Diagnosis: HLH signs ... lymph node, or liver ... Lymphohistiocytosis #diagnosis #management