0521779407-13 CUNY1086/Karliner 0 521 77940 7 June 4, 2007 21:15
Lysosomal Diseases 937LYSOSOMAL DISEASES
DONALD M. OLSON, MD
history & physical
■Multi-organ system involvement
■Highly variable between specific diseases
➣40 lysosomal diseases known
History
■Neurological (rare in Farber disease, adult-onset Gaucher disease,
Niemann-Pick B, Fabry disease, cystinosis): psychomotor regression:
dementia, psychiatric, school (Krabbe, metachromatic leukodysto-
phy, GM1 gangliosidosis, Tay-Sachs/Sandhoff disease/GM2 gan-
gliosidosis, Niemann-Pick A), ataxia (Niemann-Pick C, Salla disease,
late metachromatic leukodystophy, Tay-Sachs/Sandhoff disease/
GM2, neuronal ceroid lipofucinosis/Batten disease), seizures
(prominent and early in neuronal ceroid lipofucinosis/Batten dis-
ease, late in Tay-Sachs/Sandhoff disease/GM2, Krabbe, myoclonic
in neuronal ceroid lipofucinosis/Batten disease), excessive startle
(Tay-Sachs/Sandhoff disease/GM2 [esp. with loud sound], Krabbe),
vision loss (usually late, Tay-Sachs/Sandhoff disease/GM2, Krabbe,
Niemann-Pick A, neuronal ceroid lipofucinosis/Batten disease),
peripheral neuropathy (weakness, sensory changes, pain: vari-
able among different diseases), speech changes, dysarthria (GM1,
Niemann-Pick, Tay-Sachs/Sandhoff disease/GM2), movement dis-
order (Niemann-Pick, metachromatic leukodystophy), deafness
(sialidosis)
■GI: Vomiting, feeding problems (Krabbe, Farber disease, Niemann-
Pick A, Niemann-Pick B, Gaucher disease)
■Skin, skeletal: joint swelling, deformity (Farber disease), subcuta-
neous nodules (Farber disease), pain crises (Fabry disease, Gaucher
disease), easy bruisability (Gaucher disease)
■Pulmonary: dyspnea (Farber disease, Niemann-Pick B)
■Ethnicity: Jewish (Tay-Sachs/Sandhoff disease/GM2, some
Niemann-Pick A), Finnish (Salla disease, some neuronal ceroid
lipofucinosis/Batten disease)
■Family history: most autosomal recessive, Fabry disease X-linkedSigns & Symptoms
■Appearance: dysmorphic in many, esp. with infancy or childhood
onset