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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

Case

Age at imaging

Imaging technique

Findings

Proposed diagnosis on review

2

27 y

CT

Diffuse mild cortical atrophy and hydrocephalus ex vacuo

Bipolar disorder with catatonia

10

12 y

MRI

Diffuse cerebral and cerebellar atrophy

Metachromatic leukodystrophy

11

52 y

CT

Cerebral atrophy, with multiple intracranial meningiomas

Bipolar disorder with catatonia, neurofibromatosis type 2

22

45 y

MRI

Normal, except for mild enlargement of the cisterna magna and central atrophy

Progressive neurological disorder

26

19, 25, and 41 y

CT

Corticosubcortical atrophy

Bipolar disorder

28

43 y

CT

Mild corticosubcortical atrophy

Bipolar disorder

31

70 y

MRI

Cortical atrophy, particularly in the frontal region, and subtle periventricular white matter changes

Bipolar disorder with catatonia

43

NA (between 20 and 46 y)

NA

Cerebral and cerebellar atrophy

Unspecified psychotic disorder with catatonia

45

42 y

MRI

Discrete loss of cerebral tissue predominantly in the left hemisphere with enlarged sulci

Bipolar disorder

56

NA (between 23 and 30 y)

MRI

Incipient cortical atrophy

Bipolar disorder with catatonia

  1. CT computed tomography, MRI magnetic resonance imaging, NA not available, y years