Differentials
Langerhans cell histiocytosis (differential diagnosis of type 2 and 3 Gaucher disease)
SIGNS / SYMPTOMS
There may be symptoms of diabetes insipidus (polyuria/polydipsia).
INVESTIGATIONS
Tissue biopsy shows proliferation of Langerhans cell histiocytes.
Rheumatic fever (differential diagnosis of Fabry)
SIGNS / SYMPTOMS
Recent sore throat or scarlet fever; fever.
INVESTIGATIONS
Rapid antigen test positive for group A Streptococcus.
Bacterial endocarditis (differential diagnosis of Fabry)
SIGNS / SYMPTOMS
Fever; historical sources of bacteremia (intravenous drug use, indwelling vascular catheters, recent dental work).
INVESTIGATIONS
Blood cultures show bacteremia.
Migraine (differential diagnosis of Fabry)
SIGNS / SYMPTOMS
Sensitivity to light and noise; aura.
INVESTIGATIONS
Laboratory tests can only exclude other differentials of migraine.
Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) (differential diagnosis of Fabry)
SIGNS / SYMPTOMS
History of migraine, history of transient ischemic attack/stroke.
INVESTIGATIONS
MRI shows lesions around basal ganglia, periventricular white matter, and pons.
Rheumatoid arthritis (differential diagnosis of mucopolysaccharidosis)
SIGNS / SYMPTOMS
Mean age of presentation 50 to 55 years.
INVESTIGATIONS
Positive for rheumatoid factor or anticyclic citrullinated peptide antibody.
Amyloidosis (differential diagnosis of mucopolysaccharidosis)
SIGNS / SYMPTOMS
Jugular venous distension, lower extremity edema, periorbital purpura, macroglossia.
INVESTIGATIONS
Monoclonal protein in serum or urine immunofixation.
Alzheimer dementia (differential diagnosis of Tay-Sachs)
SIGNS / SYMPTOMS
Advanced age.
INVESTIGATIONS
Tests can rule out other causes of dementia.
Muscular dystrophies (differential diagnosis of Pompe)
SIGNS / SYMPTOMS
Family history of a muscular dystrophy.
INVESTIGATIONS
Serum creatine kinase may be 50 to 100 times normal level. Xp21 mutation present in Duchenne muscular dystrophy.
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