Key Learning Points

  • What makes the lysosomal storage diseases different from other classic metabolic diseases is the fact that patients can be born normally and then develop the disease later on, that the disease progresses slowly and they do not have acute metabolic derangements that are called metabolic crises. Lysosomal Storage Disorders presenting with dysmorphic features, organomegaly, bone abnormalities and neurological features.
  • There are different ages of onset for all LSDs. There are the neonatal ones, the infantile ones, the early childhood, the late childhood and the later onset in adolescence and adulthood, and most of these have some neurological abnormalities associated to them. In order to come up with the right one you have to associate that neurological defect with the other associated features, whether it’s bones, organs or haematological or cardiac to come up with the right diagnosis.


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