12 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Loss of parental copy ... Syndrome Signs/Symptoms ... /Complications: ... , sleep apnea, cor ... pulmonale #PraderWilli
Lesions of the Spinal cord - Spinal Cord Syndromes

Spinal cord lesions can result in permanent neurologic
result in permanent neurologic ... deficiency - Syrinx ... Lower motor neuron symptoms ... Upper motor neuron symptoms ... differential #diagnosis #neurology
Acute Spinal Cord Injuries: Pathogenesis and clinical findings
 • Anterior Cord Syndrome -> Anterior spinal artery
Acute Spinal Cord ... findings • Anterior Cord ... complete • Central Cord ... Syndrome ->Cord ... • Posterior Cord
Neurological Manifestations of Tuberculosis
Spinal Arachnoiditis & Polyradiculopathy:
 • Subacute onset of limb weakness, bladder/bowel dysfunction, muscle
meninges in spinal cord ... nerve roots Spinal Cord ... lymphadenopathy, pulmonary ... • Usually is a complication ... Children with pulmonary
Transverse Myelitis Overview

Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
of the spinal cord ... monophasic Pathophysiology ... to the spinal cord ... Bilateral signs and/or symptoms ... diagnosis #management #neurology
Bronchiectasis - Summary

What?
• Bronchiectasis is derived from the Greek words bronckos meaning airway and ectasis meaning
inflammation Symptoms ... obstruction • COPD ... Physical stigmata of cor ... disease Complications ... • Pulmonary artery
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... Late (shock): cold ... #21HydroxylaseDeficiency #21OHD #pathophysiology
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 ... ‘red flag’ symptoms ... Diagnosis: • Spinal cord ... spondylitis • Tethered cord ... diagnosis #causes #neurology
Cryofibrinogenemia Summary

Cryofibrinogenemia Epidemiology:
 • 40-70 years with a modest female predominance

Cryofibrinogenemia:
 • The precipitation of a
Cryofibrinogen is a cold ... - Albumin - Cold ... Cryofibrinogenemia Symptoms ... may include: • Cold ... thrombophlebitis, pulmonary
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
lateral sclerosis Pathophysiology ... - Microglial cells ... multiple spinal cord ... fasciculations Common Symptoms ... Lateral #Sclerosis #neurology