Incidentally Identified Open‐Lip Schizencephaly in an Adult With Schizoaffective Disorder: A Case Report

ABSTRACT

Open‐lip schizencephaly may remain undiagnosed until adulthood and can be incidentally identified during evaluation for unrelated presentations. This case highlights the coexistence of congenital neurodevelopmental abnormalities and schizoaffective disorder in an adult patient, while emphasizing the diagnostic complexity of interpreting psychiatric symptoms in the presence of structural brain anomalies and vascular comorbidities.

1. Introduction

Schizencephaly is part of a spectrum of abnormalities of the cerebral hemispheres. In this condition, a cleft extends from the pial surface to the ventricle and is lined by gray matter [1]. Schizencephaly is further differentiated into type one (closed‐lip), in which tissues on either side of the cleft remain in contact, and type two (open‐lip), in which the tissues are widely separated [2, 3]. This separation is filled with cerebrospinal fluid. This key difference contributes to the worse prognosis associated with open‐lip schizencephaly [2, 4].

Schizencephaly is known to occur both sporadically and in association with familial causes. Both etiologies have been linked to heterozygous mutation of the homeobox gene EMX2 [5, 6]. In sporadic cases, it is thought that inappropriate neuroblast migration leads to failure of growth of the cerebral mantle before the end of the second month of fetal life [2, 7].

Although schizencephaly commonly presents in childhood with nonspecific symptoms such as seizures, motor deficits, or developmental delay, rare adult incidental diagnoses have been reported [6]. Associations between schizencephaly and psychiatric disorders have been described; however, the nature of this relationship remains uncertain and causality has not been established. A range of psychiatric syndromes, including schizophrenia and bipolar disorder, have been reported in patients with schizencephaly [8]. Management is generally symptom‐directed, with treatment tailored to the patient's neurological and psychiatric manifestations. Neurosurgical intervention is reserved for complications like hydrocephalus or intracranial hypertension [5]. Prognosis depends on timing and severity of symptoms, as well as the patient's compliance to treatment.

This case describes an adult patient with imaging findings consistent with open‐lip schizencephaly, suspected corpus callosum agenesis, cavum septum pellucidum, and a preexisting diagnosis of schizoaffective disorder. Rather than suggesting a causal relationship, this report highlights the diagnostic complexity created by coexisting congenital neurodevelopmental abnormalities, psychiatric illness, cerebrovascular disease, and metabolic comorbidity in adulthood [9].

2. Case History

A 37‐year‐old female with a history of type one diabetes managed with insulin was admitted to the hospital for a suspected stroke. She was found earlier on the floor near her bed, having acutely lost consciousness. Upon hospitalization, her blood sugar was 57 mg/dL (reference range 70–140 mg/dL). This presentation prompted a head CT scan without contrast, which revealed a lack of acute intracranial hemorrhage. The cerebral parenchyma did, however, depict focal dilation of the left lateral ventricle and poor definition of the corpus callosum (Figure 1). Such incidental findings were interpreted as imaging features consistent with open‐lip schizencephaly involving the left frontoparietal region, suspected corpus callosum agenesis, and cavum septum pellucidum (Figures 2 and 3).

FIGURE 1.

Sagittal noncontrast CT depicted poor definition of the corpus callosum, suggesting agenesis.

FIGURE 2.

Coronal noncontrast CT demonstrating left frontoparietal open‐lip schizencephaly with a cerebrospinal fluid‐filled cleft extending from the cortical surface to the left lateral ventricle and associated ventriculomegaly.

FIGURE 3.

Axial noncontrast CT demonstrated focal dilation of the left lateral ventricle, suggesting open‐lip schizencephaly.

3. Differential Diagnosis

In this patient presenting with acute loss of consciousness, the primary differential diagnoses included hypoglycemia‐related altered mental status and acute cerebrovascular events. Hypoglycemia was strongly supported by the patient's history of type 1 diabetes mellitus and a documented blood glucose level of 57 mg/dL at presentation and was considered the most likely explanation for the acute episode. Acute ischemic stroke and intracranial hemorrhage were also considered given the sudden onset of symptoms; however, noncontrast CT imaging did not demonstrate acute intracranial hemorrhage or other acute intracranial pathology, and no focal neurological deficits were identified on evaluation. The congenital neuroanatomical abnormalities were incidentally identified during imaging performed as part of the acute workup.

4. Outcome and Follow‐Up

Given the patient's newfound condition, a thorough review of her past medical history and coordination with primary points of care became pertinent. This review revealed a past diagnosis of schizoaffective disorder, the management of which was lost to follow‐up. The prior diagnosis of schizoaffective disorder was established during an earlier psychiatric evaluation; although detailed documentation regarding the original diagnostic criteria was limited, it is assumed to have been met clinically. Prior psychiatric medications and treatment responses could not be reliably confirmed from available records. At the time of admission, the patient was not receiving antipsychotic therapy.

The coexistence of congenital neurodevelopmental abnormalities and schizoaffective disorder raised questions regarding potential overlap in neuropsychiatric manifestations; however, a causal relationship could not be established. Additionally, she had a brief history of marijuana use from the age of 15–17, but no other reported illicit drug use. These findings highlighted the challenge of distinguishing psychiatric features potentially related to her congenital anomalies from those due to other factors.

Over the following years, the patient presented to the hospital multiple times for acute care, but management of her chronic conditions was suboptimal due to inconsistent follow‐up and adherence challenges. She had encounters for an acute neurologic deficit and altered mental status, neither of which revealed new findings. On a similar subsequent visit, a CT angiography of the head and neck revealed a basilar artery aneurysm. MRI performed at that time demonstrated the previously identified congenital abnormalities, including open‐lip schizencephaly, agenesis of the corpus callosum, and cavum septum pellucidum, which were better characterized on MRI compared with prior CT imaging. In addition, MRI revealed scattered chronic lacunar infarcts as well as several small acute lacunar infarcts involving the globus pallidus, left basal ganglia, and right parietal periventricular deep white matter. As these events developed, the challenges in diagnosis and management posed by her underlying congenital anomalies and psychiatric history became more apparent. The patient's recurrent presentations highlighted the complexity of interpreting neuropsychiatric symptoms in the setting of congenital structural abnormalities, cerebrovascular disease, diabetes mellitus, and incomplete psychiatric follow‐up.

5. Discussion

Reports describing coexisting schizencephaly and psychotic disorders remain limited in the literature, particularly in adults with schizoaffective disorder [10]. Prior studies have described associations between schizencephaly and schizophrenia‐spectrum or bipolar disorders; however, whether these findings represent causal relationships, shared neurodevelopmental vulnerability, or incidental coexistence remains uncertain [1].

The patient's imaging findings demonstrated congenital abnormalities involving the left frontoparietal region, septum pellucidum, and corpus callosum. These regions have previously been implicated in cognitive processing, emotional regulation, and interhemispheric communication, and structural abnormalities involving these areas have been reported in association with psychotic disorders [5, 8]. Nevertheless, the significance of these findings in the present case remains uncertain.

Multiple potential confounding contributors to psychiatric symptoms were present, including a previously diagnosed schizoaffective disorder and adolescent cannabis exposure. In addition, cerebrovascular incidents occurred years after identification of the congenital anomalies, representing acquired pathology distinct from the patient's neurodevelopmental findings. These factors further complicate attribution of psychiatric symptoms to any single etiology [10].

This report has several limitations. Although the patient carried a documented diagnosis of schizoaffective disorder, there were limitations in terms of detailed characterization of the relationship between mood and psychotic symptoms and treatment response. In addition, incomplete follow‐up care restricted assessment of symptom severity and functional trajectory over time. Despite these limitations, the case highlights the diagnostic complexity that may arise when congenital neurodevelopmental abnormalities coexist with chronic psychiatric illness. Such limitations are encountered in retrospective case reports involving rare congenital neurodevelopmental abnormalities identified incidentally in adulthood and patients with fragmented follow‐up, especially in the setting of varying levels of health literacy and socioeconomic conditions.

Author Contributions

Saachi Bhattessa: conceptualization, data curation, investigation, resources, supervision, validation, visualization, writing – original draft, writing – review and editing. Shrinkhala Pokhrel: conceptualization, data curation, investigation, resources, supervision, validation, visualization, writing – original draft, writing – review and editing. Utsav Pokharel: conceptualization, data curation, investigation, resources, supervision, validation, visualization, writing – original draft, writing – review and editing. Pritam Neupane: project administration, validation.

Funding

The authors have nothing to report.

Consent

Written informed consent was obtained from the patient to publish this report.

Conflicts of Interest

The authors declare no conflicts of interest.

Data Availability Statement

Data sharing is not applicable to this article as no datasets were generated or analyzed during the current study.