Discussion:
Few case reports and studies have documented the coexistence of CVG and epilepsy. In a case study published in the Indian Journal of Dermatology, a 39-year-old man presented with CVG and a long-standing history of epilepsy (5). Another study published in the Journal of Clinical Neuroscience described a case of CVG associated with focal epilepsy in a 30-year-old male (6). These reports suggest that there may be a shared pathogenic mechanism or genetic predisposition that contributes to both conditions.
The exact relationship between CVG and epilepsy remains unclear, and further research is needed to elucidate the underlying mechanisms. However, some hypotheses have been proposed. One theory suggests that the abnormal folding and thickening of the scalp in CVG may exert pressure on the underlying brain tissue, leading to disturbances in electrical activity and potentially triggering seizures (4). Another hypothesis suggests that there may be common genetic factors or signaling pathways involved in the development of both CVG and epilepsy (7).
In a 2016 study published in the American Journal of Medical Genetics (8), the analysis of 62 cases of CVG revealed a consistent correlation between CVG and significant psychomotor delay. The majority of patients exhibited an inability to walk or talk, and a significant portion experienced difficulties in performing activities of daily living. It is important to highlight, however, that our patient’s case deviates from this observed pattern. Contrary to the typical presentation, our patient demonstrated the ability to successfully engage in daily activities and achieve psychomotor milestones without notable delays.
In a second study published in a clinical case reports journal in 2020, two cases of drug-resistant epilepsy with CVG were evaluated (9). Previous reports have indicated that conditions like acromegaly and low testosterone levels can potentially lead to CVG. A study from 1964 even reported that castration resolved CVG in two cases (10). However, our patient’s case contradicts these findings, as they had normal growth hormone and testosterone levels.
In contrast to previous case reports where individuals with CVG and epilepsy typically exhibit normal brain MRI results, our case presentation reveals an abnormality in the patient’s MRI. This abnormality suggests a previous injury, which could be one of the contributing factors to the patient’s current condition. The presence of encephalomalacia indicates the possibility of an ischemic stroke that occurred during the prenatal, natal, or childhood period which may have lead to the current situation.
The early onset of CVG which precedes the development of epilepsy in our case, demonstrates the possibility of having CVG as an early indicator of epilepsy or other neurological conditions.
Numerous case reports have examined potential associations and causal factors related to Cutis Verticis Gyrata. For instance, a study documented a case in which secondary CVG developed in a 46-year-old female patient with Cerebriform Intradermal Nevus (11). Furthermore, an Italian article published in 2022 reported two cases of CVG occurring in patients with Noonan syndrome (12). Additionally, a recent case report published in 2022 highlighted a case of CVG presenting in a patient diagnosed with SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) (13). These reports contribute to the growing body of literature exploring the diverse etiologies and manifestations of CVG.
As evident from previous reports, the coexistence of epilepsy and CVG can occur even in the absence of typical hypothetical causes. It is crucial to remain open to new and innovative explanations for this potential relationship. Although certain characteristics, such as male gender and early onset, are commonly observed among affected patients, the underlying origins of this association are still unclear. Furthermore, physicians should be aware that CVG could be an early indicator of epilepsy or other neurological disorders.