Presentations

Abstract

Introduction:

Schizencephaly, a rare anomaly (approximately 1.5:100,000 live births), is a congenital cortical malformation resulting from deficient neuronal migration during embryogenesis [(Veerapaneni et al., n.d.)]. This pathology leads to a cleft lined with heterotopic gray matter, attributed to a variety of etiologies including genetic mutations and in-utero perturbations linked to substances, medications, or vascular insults. Clinical manifestations include seizures, cognitive impairment, and hemiparesis to asymptomatic presentation. The morphology and dimensions of the malformation often correlate with symptom severity and prognosis. [(Rege & Patil, 2016)]

Case Information:

J.C., a 32-year-old male, presented to the emergency department via ambulance following a motor vehicle accident. Initial evaluation confirmed hemodynamic stability, prompting a standard trauma assessment that included a non-contrast head CT (NCCT). The patient's medical history yielded no significant insights into neurologic or cognitive deficits. Although NCCT revealed no acute intracranial pathologies, it incidentally revealed the presence of schizencephaly. The patient did not require acute intervention for his presenting symptoms and was discharged home. The patient was instructed to follow up for neurological evaluation, potentially including MRI for enhanced characterization of soft tissue anomalies. The patient's future course likely entails neurological management to mitigate or treat seizures or other neurological complications.

Discussion: Imaging and Intervention

Schizencephaly primarily manifests as either a bilateral open-lip cleft or a unilateral closed-lip cleft affecting the posterior frontal or parietal lobes. Concomitant malformations include septo-optic dysplasia, gray matter heterotopia, septum pellucidum absence, and dysplastic corpus callosum [(Abera & Gaillard, 2008)]. J.C.'s NCCT divulged a sizable unilateral open-lip cleft within the posterior left frontal lobe. Heterotopic gray matter embellished cleft margins. Centrally, an absent septum pellucidum and an underdeveloped corpus callosum were evident (figure 1).

There is no demonstrated correlation to age of presentation and patients may remain asymptomatic or present with symptoms of hemiparesis, seizures, or neurological delay from childhood to adulthood. The extent of parenchymal involvement and morphology have associations with certain clinical presentations. Closed-lip clefts are associated with patients presenting for hemiparesis and motor delay and open-lip clefts are associated with hydrocephalus and seizures [(Alexander et al., 1997)]. J.C.'s morphology was concerning hydrocephalus and/or seizures, although there was no history of head enlargement, visual or gait disturbances, headaches, or seizures. However, new adult-onset symptoms remain a possible inciting cause of the motor vehicle accident that brought J.C. in as a trauma patient.

Conclusion:

Schizencephaly, a rare inborn anomaly, typically includes neurological deficits, intellectual impairments, and seizures. Patients may remain asymptomatic and only discover the presence of a malformation incidentally. Incidental findings suggestive of schizencephaly warrant MRI evaluation and warrant oversight by neurology to preempt potential complications. This case underscores the need to consider congenital malformations as plausible risk factors for traumatic injuries, albeit infrequent.