Clinical Characteristics of Patients With Enlarged Ventricles and Cognitive Impairment (EVCI): Case Series

Since research on the pathophysiology of psychiatric disorders diagnosed by symptoms has not succeeded, a data-driven analysis incorporating biological and cross-disease perspectives has been proposed. We have reported a new subgroup of psychiatric disorders by a data-driven analysis of subcortical volumes of brain MRI in 5602 subjects, including patients with psychiatric disorders and controls. This subgroup of patients is characterized by enlarged ventricle and cognitive impairment (EVCI) with a high proportion of schizophrenia, electroencephalography abnormalities, and rare pathological copy number variations.

Of the nine patients with EVCI, eight patients had schizophrenia, and one patient had autism spectrum disorder. Early onset of age was observed in eight patients with schizophrenia. Treatment responses were poor in seven patients with schizophrenia, and two of three treatment-resistant schizophrenia patients responded to clozapine. Four patients showed ischemic changes in cerebral white matter. In electroencephalography, abnormal findings were observed in five patients, borderline findings in two patients, and normal findings in two patients. Rare pathogenic copy number variations were found in three patients (22q11.21 deletion, 7q11.23 duplication, and 7q36.2 deletion).

The results of this case series showed additional clinical features of treatment response and ischemic changes in cerebral white matter, which could be a clue to the treatment and diagnosis of EVCI. This case series might help elucidate the pathophysiology of EVCI.