Maja Di Rocco

TL;DR: In spite of the first symptoms appearing in early childhood, the diagnosis of PPRD is most often made only in the second decade and affected children often receive unnecessary anti‐inflammatory and immunosuppressive treatments.

TL;DR: The molecular characterization of three patients with CESD suggest that, in view of the variable severity of its phenotypic expression, CESD may sometimes be difficult to diagnose, but it should be considered in patients with severe type IIb hyperlipidemia associated with low HDL, mildly elevated serum liver enzymes and hepatomegaly.

TL;DR: This review will focus on all critical issues related to the management of MPS I-H, including a prolonged neuropsychological follow-up of post-transplant cognitive development of children and residual disease burden.

TL;DR: A larger series of studies screened a collection of new patients mainly originating from Italy and Brazil, to further ascertain the spectrum of mutations in SPG11 and corroborated the notion that even within apparently homogeneous population a molecular diagnosis cannot be achieved without full gene sequencing.

TL;DR: It is confirmed that SMAD4 is the major gene responsible for Myhre syndrome and myhre–LAPS syndrome is a clinically homogenous condition with life threatening complications in the course of the disease.