Schematic approach to the diagnosis and management of JSRD. Left: clinical manifestations that - in variable association - may lead to the diagnostic suspicion of JSRD. Middle: the detection of the MTS by brain magnetic resonance imaging confirms the diagnosis; in a subset of patients, other CNS defects may be identified. Right: proposed evaluation protocol for multiorgan involvement. *by water restriction or Desmopressin test.
Brancati et al. Orphanet Journal of Rare Diseases 2010 5:20 doi:10.1186/1750-1172-5-20