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Table 2 PMS patients with neuropsychiatric decompensation and atrophy on brain imaging

From: Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature

CaseAge at imagingImaging techniqueFindingsProposed diagnosis on review
227 yCTDiffuse mild cortical atrophy and hydrocephalus ex vacuoBipolar disorder with catatonia
1012 yMRIDiffuse cerebral and cerebellar atrophyMetachromatic leukodystrophy
1152 yCTCerebral atrophy, with multiple intracranial meningiomasBipolar disorder with catatonia, neurofibromatosis type 2
2245 yMRINormal, except for mild enlargement of the cisterna magna and central atrophyProgressive neurological disorder
2619, 25, and 41 yCTCorticosubcortical atrophyBipolar disorder
2843 yCTMild corticosubcortical atrophyBipolar disorder
3170 yMRICortical atrophy, particularly in the frontal region, and subtle periventricular white matter changesBipolar disorder with catatonia
43NA (between 20 and 46 y)NACerebral and cerebellar atrophyUnspecified psychotic disorder with catatonia
4542 yMRIDiscrete loss of cerebral tissue predominantly in the left hemisphere with enlarged sulciBipolar disorder
56NA (between 23 and 30 y)MRIIncipient cortical atrophyBipolar disorder with catatonia
  1. CT computed tomography, MRI magnetic resonance imaging, NA not available, y years