9 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Syndrome Signs/Symptoms ... 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 ... pathophysiology #genetics ... endocrinology #peds ... #pediatrics
Causes of Neuromuscular Weakness
 • Spinal Cord: Demyelinating Disease (MS), Epidural abscess, Infarction, Syringomyelia, Tetanus, Transverse
Causes of Neuromuscular ... Demyelinating Disease (MS ... heavy metals), Critical ... #differential #diagnosis ... #neurology
BEE Syndromes - Non-inflammatory Causes

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

Visual or auditory symptoms in
Non-inflammatory Causes ... conjunction with symptoms ... meningitis • Genetic ... MRI lesions and clinical ... consistent with MS
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
Neurological symptoms ... the underlying cause ... Seizures: Treat with AEDs ... until cause identified ... #management #neurology
Myasthenia Gravis Overview

Myasthenia Gravis is an autoimmune disorder of the postsynaptic neuromuscular junction.  Ab to
myasthenia Diagnosis ... immunologic assay - MuSK ... immunosuppressants - Meds ... Myasthenia #Gravis #diagnosis ... #management #neurology
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
Pseudohyperkalemia vs Reverse Hyperkalemia

Pseudohyperkalemia and reverse pseudohyperkalemia are both conditions where potassium levels appear falsely elevated.

Pseudohyperkalemia:
This
after blood is drawn ... • No clinical ... • No symptoms ... Hyperkalemia #Potassium #Nephrology ... #Diagnosis
Parosteal Lipoma - MSK Radiology
Imaging Findings:
 • Frontal radiograph displays a radiolucent soft-tissue mass with internal
Parosteal Lipoma - MSK ... Case description ... or neuropathic symptoms ... #Radiology #diagnosis ... #msk