13 results
Low Alkaline Phosphatase - Hypophosphatasia 

Is Low Alkaline Phosphatase Of Clinical Importance?

ALP enzyme- Discovered in 1923
Low
Phosphatase Of Clinical ... Most cases diagnosed ... mineralization Symptoms ... : - Renal failure ... Phosphatase: • Other causes
Causes of Lactate Elevation, Lactic Acidosis - Differential Diagnosis

The most common causes of hyperlactatemia are usually:
Elevation, Lactic ... - Differential Diagnosis ... / hypoxemia -> focus ... malignancy, or thiamine deficiency ... effect - Thiamine deficiency
Creatine Kinase - Causes of Elevated CK Levels
Acute CK Elevation (Pain > Weakness):
 • RHABDOMYOLYSIS
Creatine Kinase - Causes ... Levels Acute CK Elevation ... infarction, Acute renal ... - Vit D/E deficiency ... #differential #diagnosis
Leigh Syndrome 
History: 19-month-old girl with hypotonia, developmental 
delay, failure to thrive, and bilateral optic disc
developmental delay ... • +/- lactate elevation ... was a complex I deficiency ... Leigh #Syndrome #Clinical ... #MRI #Brain #Diagnosis
Krabbe Disease 

Check out this interesting case of Krabbe disease, a rare genetic leukodystrophy. Diagnosis was
this interesting case ... Diagnosis was made ... leukodystrophy w/ deficiency ... neurotoxic • Symptoms ... : dev delay, seizures
Rhabdomyolysis - Differential Diagnosis Framework and Management Summary

Causes of Rhabdomyolysis:
 • Trauma:
	- Immobilization
	- Crush injury
	- Compartment
- Differential Diagnosis ... Management Summary Causes ... Dermatomyositis Clinical ... : • Triad of symptoms ... ULN • AST/ALT Elevation
Thiamine Deficiency - Differential Diagnosis Framework and Clinical Manifestations

Causes of Thiamine Deficiency:
 • Poor intake:
	- Diets
- Differential Diagnosis ... Framework and Clinical ... Manifestations Causes ... heart failure - Dilated ... #Differential #Diagnosis
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
Pathogenesis and Clinical ... Deficiency in galactosylation ... Intussusception - Renal ... Pathophysiology #Diagnosis ... #Signs #Symptoms
Vitamin B12 (Cobalamin) Deficiency
Etiology:
 • Vit B12 - aka cobalamin. Present in foods derived from animal
B12 (Cobalamin) Deficiency ... • Common Causes ... intrinsic factor, IF) Clinical ... pain, diarrhea related ... , alcohol use, symptoms
Clinical Manifestations of Sickle Cell Disease

Anaemia
Infection
Painful crises
Priapism
Splenomegaly
Long Term Problems - Short stature and delayed puberty, Stroke
Clinical Manifestations ... Short stature and delayed ... Heart failure, Renal ... Disease #Signs #Symptoms ... #Diagnosis