8 results
Epiglottitis - Swollen inflamed epiglottis 
Clinical (Rapid onset) 
 • Fever 
 • Sore throat
Epiglottitis - Swollen ... #Epiglottitis #Signs ... #Causes #Diagnosis ... #Differential #Peds ... #Pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... PraderWilli #Syndrome #genetics ... pathophysiology #peds ... #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... enzyme 21-OHase causes ... Signs/Symptoms/Complications ... endocrinology #peds ... #pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
workup 1) Clinical ... Alzheimer - 1st cause ... (parkinsonian signs ... hyperorality, - 25% genetic ... Dementia - 2nd cause
Pseudogout: pathogenesis and clinical findings
 - Idiopathic (vast majority of cases) -> Mechanism unknown
 - Familial
pathogenesis and clinical ... high-resolution ultrasound ... PAINFUL, warm, swollen ... CPPD #Disease #Signs ... #Symptoms #Pathophysiology
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
of UMN and LMN signs ... 4) progressive muscular ... of UMN and LMN signs ... both UMN and LMN signs ... EMG: LMN Signs in
Transverse Myelitis Overview

Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
Transverse Myelitis - Clinical ... • Bilateral signs ... and/or symptoms ... or less swollen ... Myelitis #diagnosis #management
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
is also a late sign ... paediatrician or geneticist ... are observed for signs ... #Examination #Peds ... #Pediatrics #Diagnosis