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

Researchers studied 9 people with enlarged brain spaces (ventricles) and thinking difficulties. Most had schizophrenia that started early and didn't respond well to usual treatments, though some improved with a specific medication called clozapine. One person had autism. Brain scans showed damage to white matter in some patients, and genetic testing found rare genetic changes in 3 people. This might help doctors better understand and treat these conditions.

This case series examined nine patients with enlarged ventricles and cognitive impairment (EVCI), a subgroup identified through data-driven analysis of brain MRI scans from 5,602 subjects. Eight patients had schizophrenia (with early onset) and one had autism spectrum disorder. Clinical features included poor treatment response in seven schizophrenia patients, though two of three treatment-resistant cases responded to clozapine. Additional findings included ischemic white matter changes in four patients, EEG abnormalities in five patients, and rare pathogenic copy number variations in three patients.

The study suggests EVCI may represent a distinct neurobiological subtype across psychiatric conditions, potentially informing treatment approaches and diagnostic considerations.

EVCI may represent a distinct neurobiological subtype requiring specialized treatment approaches. Clozapine may be considered for treatment-resistant cases. Genetic testing for copy number variations might be warranted. Further research needed to establish diagnostic criteria and treatment protocols for this emerging subgroup.

Very small sample size (n=9) limits generalizability. Case series design provides only descriptive data without controls. No standardized diagnostic criteria for EVCI. Limited follow-up data on treatment outcomes and long-term prognosis.

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.