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.