20 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Signs/Symptoms ... delayed puberty -> Infertility ... , sleep apnea, cor ... pathophysiology #peds #pediatrics
Lesions of the Spinal cord - Spinal Cord Syndromes

Spinal cord lesions can result in permanent neurologic
- Spinal Cord Syndromes ... Lower motor neuron symptoms ... Upper motor neuron symptoms ... #differential # ... diagnosis #neurology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... pathophysiology #genetics #endocrinology ... #peds #pediatrics
Spinal Cord Disorders - Differential Diagnosis Framework

Spinal cord neurological lesion:
Clinical findings:
 • Symptoms and signs below
- Differential ... Diagnosis Framework ... neurological lesion: Clinical ... MCTD, Sjogren syndrome ... #neurology #differential
Cold Agglutinin Disease

3 Types of Cold Sensitive Antibodies:
  1. Cold Agglutinins (CAD)
  2. Donath-Landsteiner
Agglutinin Syndrome ... Viral Infection Clinical ... Circulatory Symptoms ... symptoms - most ... younger pts) Differential
Cauda Equina Syndrome Overview

Cauda Equina Syndrome:
 • Prevalence: 1:33,000-100,000 ppl/yr
 • Incidence: 1.5-3.4 million ppl/yr
 •
spine L1-L5 Symptoms ... Diagnosis: • ... Spinal cord infarct ... Imaging studies: • MRI ... #differential #
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... mutations - Down syndrome ... pathophysiology #geriatrics ... #diagnosis #signs ... #symptoms
BEE Syndromes - Non-inflammatory Causes

Immune-mediated conditions affecting the Brain, Eye, and Ear

Visual or auditory symptoms in
conjunction with symptoms ... neuropathy (LHON) plus MRI ... lesions and clinical ... noninflammatory #differential ... #diagnosis
Posterior Ankle Impingement (Os Trigonum) Syndrome - MSK Radiology
Imaging Findings:
 • Os trigonum which has marrow
(Os Trigonum) Syndrome ... hallucis longus Differential ... flexion but no symptoms ... #clinical #mri ... #diagnosis #msk
Transverse Myelitis Overview

Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
Transverse Myelitis - Clinical ... bouts of HTN Diagnostic ... Bilateral signs and/or symptoms ... Transverse Myelitis Diagnosis ... management #neurology #differential