9 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Prader-Willi Syndrome Signs ... > Neonatal and infantile ... #pathophysiology ... #peds #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... chromosome 21) Signs ... seizure, primitive reflexes ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis
Brudzinski’s Sign in Meningitis (first described in 19th century by Dr. Josef Brudzinski)

Brudzinski's sign is characterized
Passive neck flexion causes ... While the pathophysiology ... an involuntary reflex ... #Meningitis #Clinical ... #PhysicalExam #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 ... Signs/Symptoms/Complications ... #genetics #endocrinology ... #peds #pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
workup 1) Clinical ... Alzheimer - 1st cause ... (parkinsonian signs ... hyperorality, - 25% genetic ... Workup #Diagnosis #Geriatrics
Floppy Baby Syndrome
 • Infantile Botulism
 • Acute Flaccid Myelitis
 • Guillain Barre
 • Neonatal Myasthenia
Baby Syndrome • Infantile ... Myasthenia Gravis Clinical ... LMN signs - Assess ... tone, resistance, reflexes ... Baby #Syndrome #pediatrics
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
is also a late sign ... paediatrician or geneticist ... This reflex is not ... the abdomen, the liver ... Examination #Peds #Pediatrics
Retinoblastoma - MRI
 • Most common intra-ocular neoplasm in children.
 • Clinical Presentation: leukocoria (loss of
Clinical Presentation ... loss of red light reflex ... tumours (60-70%) are caused ... bone marrow and liver ... neuroradiology #pediatrics
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
Familial) HLH: - Genetic ... Clinical Presentation ... • Common Signs ... - Elevated liver ... Pathophysiology