LAMA1 and Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome: Poretti-Boltshauser syndrome (PTBHS) is a rare autosomal recessive disorder caused by LAMA1 (laminin1) (Online Mendelian Inheritance in Man (OMIM): 150320) mutation [1]. LAMA1 gene encodes for laminin subunit alpha-1 (400-KD), which links to laminin beta and laminin gamma subunits by disulfide bonds, and this laminin trimer acts as an adhesion protein for endothelial cells and hence it plays a role in the organization of the extracellular matrix as well as the polarization in the basal and apical areas [2,3].