38 results
Krabbe Disease 

Check out this interesting case of Krabbe disease, a rare genetic leukodystrophy. Diagnosis was
Krabbe Disease ... case of Krabbe disease ... testing and expedite treatment ... failure, cerebellar ataxia ... MarkMamloukMD #Krabbe #Disease
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Alzheimer’s Disease ... Motor dysfunction: myoclonic ... incontinence, apraxia
Acute Kidney Injury (AKI) in Patients with Cancer 

Cancer Related 
• Hypercalcemia 
• Intravenous contrast 
•
LC deposition disease ... Minimal change disease ... malignancies Treatment ... #AKI #Cancer #Oncology
Risk Factors and Signs of Copper Deficiency
Risk Factors:
 • Gastrointestinal: Previous upper bowel resection/bariatric surgery, Inflammatory
Inflammatory bowel disease ... dental fixatives, Treatment ... of Wilson's disease ... Metabolic: Menkes disease ... Optic neuropathy, Ataxia
Paraproteinemias

Entities That Can Feature A Monoclonal Protein/M Component:
• MM
• WM
• MGUS
• MGCS
• MGRS
• Splenic Marginal Zone
• Heavy Chain disease ... predominance) • CANOMAD (Ataxia ... • Amyloidosis (CVS ... Sneddon-Wilkinson disease ... Differential #Diagnosis #Oncology
Multiple Myeloma Diagnosis and Management Summary
Clinical Signs:
 • hyperCalcemia 28% (bone demineralization)
 • Renal disease 48%
demineralization) • Renal disease ... Hgb < 10 • Ca ... Diagnosis #Management #oncology
Dyspnea - Considerations with Malignancy
Directly Malignancy Related:
 - Lymphangitic spread to lung
 - Malignant pleural effusion
metastases Treatment ... Radiation induced disease ... differential #diagnosis #oncology
CNS Manifestations of Systemic Lupus Erythematosus (SLE)

Clinical Manifestations: Demyelinating Syndrome, Headache, Movement disorders, Seizure disorders, Aseptic
Cerebrovascular Disease ... Puncture, EEG Treatment ... prevention (statin for CVA ... diagnosis #management #treatment
Invasive Candidiasis (IC)

Diagnosis:
Culture:
 • Gold standard, but Slow (~2-3 days), 50% sensitivity
 • Blood Sample
 •
Line Targeted Treatment ... Funduscopic Exam • CVC ... • Infectious Diseases ... candida #auris #treatment
Short Stature - Differential Diagnosis Algorithm
Normal Variant, Normal Puberty Onset (BA = CA)
 • Familial Short
Puberty Onset (BA = CA ... Puberty Onset (BA < CA ... • Cushing's Disease ... Panhypopituitarism Treatment ... Transplant Chronic Disease