Rationale:
Linear scleroderma “en coup de sabre” is a subset of localized scleroderma that has been previously described to have various neurological manifestations, with localization-related epilepsy as the most common (1). The skin lesions have characteristic indents like “a blow of a sword” and have been reported over the forehead region but less frequently in other areas. Abnormal MRI findings are characteristically located ipsilateral to the skin lesion. In this case report, we stress the importance of skin examination, as this young patient with drug-resistant localization-related epilepsy with abnormal MRI was ultimately diagnosed with linear scleroderma years after presentation.
Method:
Case Report
Results:
We present the case of an 18-year-old right-handed female who was diagnosed with drug-resistant epilepsy at the age of 8 and failed four anti-epileptic drugs. She experienced daily 10-20 minute-long episodes of a negative visual disturbance in the right hemifield leading to blindness, which was followed by loss of awareness. EEG showed ictal onset arising from the left posterior temporo-occipital region. Due to her refractory epilepsy, the patient underwent extensive workup for epilepsy surgery, including brain imaging (MRI, PET-FDG, PET-C11 methionine and fMRI studies),vascular and CSF studies. Surgery was eventually deferred due to her extensive MRI findings with parietal-occipital white matter hyperintensities, calcifications, and leptomeningeal enhancement. Ten years after seizure onset, she was noted to have a 2 cm left parietal scalp indentation, which the patient previously attributed to alopecia. She underwent skin biopsy and was ultimately diagnosed with morphea linear scleroderma. She was started on steroids and is now seizure-free.
(Figure 1 – A: MRI brain showing increased signal in the left parieto-occipital regions with dystrophic calcifications with local leptomeningeal enhancement. B: FEG-PET imaging showing regional hypometabolism in the extensive left hemisphere maximum over the left temporo-occipital region (PET EEG shows no seizure). C: C11 Methionine PET showing increased intake over the left temporo-occipital region)
Conclusion:
Neurologic manifestations of linear scleroderma have been previously described. This case highlights the importance of skin examination in cases of localization-related epilepsy with extensive brain lesions as the treatment can be drastically different. The underlying pathophysiology is unknown, although histopathology has described this condition as inflammatory (4). In addition, our case is the first to report the C11-methionine PET scan finding in the patient with linear scleroderma.Treatment strategies for this condition remain anecdotal, and current literature have discussed the improvement of symptoms using steroids, immunosuppressants, and disease-modifying drugs (5, 6). However, the degree of neuroimaging abnormality, cutaneous disease, symptomatology, and treatment is highly variable and requires more research.
Funding:
:N/A
FIGURES
Figure 1