9 results
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Differential Diagnosis Algorithm ... Developmental Delay: • Syndromic ... • Genetic Disorder ... Landau-Kleffner Syndrome ... #Causes #Peds #Pediatrics
Causes of Sudden Unexpected Death in Infancy (SUDI) - Differential Diagnosis Algorithm
Congenital Anomaly / Disorder:
 •
Differential Diagnosis Algorithm ... Congenital Anomaly / Disorder ... • Metabolic Disorders ... Sudden Infant Death Syndrome ... #Causes #Peds #Pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
neurocognitive disorders ... Aphaso-apraxo-agnosia syndrome ... (parkinsonian signs ... hyperorality, - 25% genetic ... Workup #Diagnosis #Geriatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
mutations - Down syndrome ... chromosome 21) Signs ... AlzheimersDisease #Dementia ... pathophysiology #geriatrics ... #symptoms
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Kleefstra Syndrome is a rare genetic disorder, caused by a EHMT-1 gene
deletion or mutation. Most kids
Kleefstra Syndrome ... is a rare genetic ... disorder, caused ... Most kids with Kleefstra ... PatientInfo #Peds #Pediatrics
HIV-Associated Neurocognitive Disorder (HAND)

Definition:
HIV-Associated Neurocognitive disorders categories:
• Asymptomatic neurocognitive impairment
• Mild neurocognitive impairment
• HIV dementia

Pathophysiology:
HIV frequently
impairment • HIV dementia ... Encephalopathy Triad: • Memory ... • Depressive symptoms ... The clinical syndrome ... #dementia #AIDS
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... Labia major & minor ... pathophysiology #genetics ... endocrinology #peds #pediatrics
Evaluation of Recurrent Falls

Core Concept:
Maintaining an upright posture requires the integrated function of multiple systems.
Disruption in
Cardiopulmonary Disorders ... presyncope, exertional symptoms ... positive Romberg sign ... Examples: - Dementia ... Differential #Evaluation #Geriatrics