Two patients with trisomy 9 mosaicism

Clinical and neuroimaging profile of congenital brain malformations in children with spastic cerebral palsy

“…Other MRI findings were rare. Our results are in agreement with other authors who have reported that PVL is the main lesion in patients with spastic diplegia [5,8,26,27]. PVL is a form of hypoxic-ischemic damage typical of the immature brain and most commonly seen as a complication of preterm birth.…”

“…In this study we have demonstrated significant abnormalities on MRI in 95.3% of children with spastic CP. Our results are slightly higher but comparable with earlier reports [5,24,25].…”

“…As this lesion was found in children born at term it was considered to reflect a cerebral injury that had occurred in utero. Cerebral maldevelopment, due to a very early intrauterine lesion [cortical-/subcortical lesions] are also considered to be of major importance in diplegia and tetraplegia [5,18,25].…”

“…Magnetic resonance imaging (MRI), in particular, provides detailed information about the brain lesions. More previous studies have analyzed MRI findings in patients with CP in relation to motor impairment [6,7,8]. The Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society have released a new guideline on neuroimaging tests for CP and related disorders [9].…”

Twenty‐five additional cases of trisomy 9 mosaic: Birth information, medical conditions, and developmental status

“…For example, Sanchez et al [] described similar physical characteristics of a 52‐day old female with trisomy 9 mosaicism. More recently, Okumura et al [] described two patients with comparable physical characteristics and one with joint anomalies and the other with several cardiac defects. Yet, for each confirmatory study, there are new findings such as Kaminker et al [].…”