11 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 ... #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 ... Signs/Symptoms/Complications ... pathophysiology #genetics ... #endocrinology ... #peds #pediatrics
BEE Syndromes - Non-inflammatory Causes

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

Visual or auditory symptoms in
meningitis • Genetic ... neuropathy (LHON) plus MRI ... lesions and clinical ... noninflammatory #differential ... #diagnosis
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
workup 1) Clinical ... MRI, iADL scale, ... Aphaso-apraxo-agnosia syndrome ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential
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
Restrictive Cardiomyopathy - Diagnosis and Causes
Clinical: Dyspnea, Exercise Intolerance, ↑ "Right Sided-Symptoms" (ascites, hepatomegaly, ↑↑peripheral edema)
Physical
and Causes Clinical ... ↑ "Right Sided-Symptoms ... Echocardiography, Cardiac MRI ... Hyper-eosinophilc Syndrome ... #Causes #differential
Malignant Adrenal Mass - Differential Diagnosis Algorithm
Suggestive of Malignancy: Inhomogenous Density, Delay in CT Contrast Washout
Diagnosis Algorithm ... on TI Weighted MRI ... Polycystic Ovarian Syndrome ... High Plasma E2 + Clinical ... #Endocrinology
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
GrepMed Handbook Clinical ... Differential Diagnosis ... Beckwith Wiedemann syndrome ... • Pituitary MRI ... #Management #Endocrinology
Cushing's Syndrome - Hypercortisolism - Diagnosis and Clinical Features
1) Skin
 • Thin, easily bruisable skin with
Cushing's Syndrome ... Hypercortisolism - Diagnosis ... and Clinical Features ... #signs #symptoms ... #endocrinology
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
brain PRES Clinical ... PRES-Associated Clinical ... Neurological symptoms ... Vascular narrowing on MRA ... Reversible course Differential