11 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
A table of lab values ... from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Neonatology #Peds #Pediatrics ... #Table #NICU #Genetics
Causes of Pediatric Spells - Differential Diagnosis Algorithm
Neonates and Infant Spells:
 • Benign Sleep Myoclonus
 •
Causes of Pediatric ... Spells - Differential ... Diagnosis Algorithm Neonates ... Colic • Sandifer Syndrome ... #Causes #Peds #Pediatrics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
See the lab values ... of information: Pediatrics ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... Diagnosis #Algorithm #Differential
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Poor suckling -> Neonatal ... #genetics #pathophysiology ... #peds #pediatrics
Causes of Pediatric Seizures - Differential Diagnosis Algorithm
Infantile:
 • Benign Focal Epilepsy of Infancy
 • West
Causes of Pediatric ... Seizures - Differential ... Neonates and Infant ... Seizures #Epilepsy #Differential ... #Causes #Peds #Pediatrics
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Developmental Delay - Differential ... Developmental Delay: • Syndromic ... • Genetic Disorder ... Landau-Kleffner Syndrome ... #Causes #Peds #Pediatrics
Causes of Growth Restriction - Small for Gestational Age - Differential Diagnosis Algorithm
Maternal
 • Chronic Maternal
Gestational Age - Differential ... Chromosomal Anomaly • Genetic ... Syndromes • Congenital ... GrowthRestriction #Differential ... Causes #Obstetrics #Pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
Aphaso-apraxo-agnosia syndrome ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential ... Workup #Diagnosis #Geriatrics
Floppy Baby Syndrome
 • Infantile Botulism
 • Acute Flaccid Myelitis
 • Guillain Barre
 • Neonatal Myasthenia
Floppy Baby Syndrome ... Guillain Barre • Neonatal ... #Floppy #Baby #Syndrome ... #pediatrics #differential
Causes of Purpura or Easy Bruising in Children

Platelet count reduced, i.e. thrombocytopenia
 - Increased platelet destruction
- Alloimmune neonatal ... Haemolytic uraemic syndrome ... Kasabach—Merritt syndrome ... #Causes #peds #pediatrics ... #diagnosis #differential