# Leukoencephalopathy with Calcifications and Cysts--The First Polish Patient with Labrune Syndrome
## 4 Discussion
In Cockayne syndrome, systemic changes, which were absent in our patient, are associated with neurological symptoms. Brain atrophy, white matter signal abnormality and calcifications are the most prevalent in neuroimaging studies. Late-onset Krabbe disease presents different neurological signs, including ataxia, weakness and spasticity. Cystic changes with calcifications require the exclusion of parasitic (hydatid, cysticercosis and cryptococcosis) changes. No serologic evidence for parasitic infestation was found. Parasitic diseases do not typically present with white matter abnormalities. The Coats plus syndrome resembled Labrune syndrome. In neuroimaging, a triad of symptoms is so similar that before genetic explanation and differentiation between these diseases, they were considered the spectrum of the same pathology [9]. Neurological symptoms and pathologic findings, particularly cerebral microangiopathy [10], posed further problems with differentiation. In these cases, additional retinopathy and sometimes systemic pathology is observed. In 2014, [PERSON] et al. suggested a different genetic origin of Coats plus syndrome and LCC, based on negative testing for typical Coats plus, which is related to gene mutation [11]. In the Coats plus syndrome, the genetic origin is different, and the disease presents with the \(CTC1\) gene abnormality [12]. Therefore, genetic testing is crucial for the final diagnosis. Next to clinical findings and neuroimaging studies [13; 14; 15; 16], genetics has significantly contributed to the explanation of the etiology of the syndrome. Labrune syndrome is a progressive disorder with onset at different ages, but usually in childhood. Clinical severity is highly variable. In many cases, severe developmental delay, progressive neurological and cognitive decline with premature death are reported. Some patients require neurosurgical intervention due to symptoms of increased intracranial pressure. This clinical variability is most likely related to the location of the cysts, and from a clinical point of view, it fails to distinguish the most characteristic symptoms of LCC. There is also no clear correlation between the type of mutation and clinical symptoms. In our patient only an increase in radiological changes was observed, which so far are not accompanied by any clinical symptoms. To date, there is no causal treatment in the LCC. Most of the clinical symptoms result from cerebral microangiopathy as tumor-like vascular hyperplasia. One possible disease mechanism may be a malfunction in the signaling pathway of vascular endothelial growth factors (VEGF). In 2017, [PERSON] et al. reported first data on treatment with Bevacizumab, a monoclonal antibody anti-VEGF [17]. After one year of therapy for an 18-year-old patient with Bevacizumab and inhibition of VEGA signaling pathway, the authors observed significant improvement in neurological function, and brain MRI demonstrated a marked reduction in cyst volume and white matter lesions. Considering the lack of clinical symptoms and possible causal treatment, we plan to undertake similar Bevacizumab treatment in our patient in the near future.