Abstracts

Rationale: Aim We report a case of Leukoencephalopathy, cerebral calcifications and cysts (LCC) presenting as Pseudotumor cerebri, and epilepsy with infrequent seizures, including neonatal seizures. Background: LCC is a rare disorder first described in 1996. Only a few case reports have been published. The inheritance pattern and genetics remain unknown, it appears to be distinct from Coats disease. Methods: Case report. Results: A 14 year old girl presented to our Neurology outpatient clinic with intermittent headaches and bilateral papilledema. There was mild intellectual impairment. There was no relevant family history. Past medical history revealed seizures in the first months of life with focal clonic features, treated with Phenobarbitone and resolved. EEG at the time was normal, and CT scan as a neonate had suggested subtle deep grey matter calcification. She was subsequently stable and not seen again until age 14 years. An MRI at age 14 years of age showed extensive T2 hyper intense white matter changes, calcification and cysts. Lumbar puncture revealed an opening pressures of 60 cmH2O with normal chemistry and cultures. CMV, HSV and further viral studies were negative. Genetic testing for COL4A was negative. Pseudotumor cerebri was treated with Acetacolamide and settled initially. Seizures with focal (headache, vertiginous change, focal dystonia) and at times secondary generalized features recurred at age 16 and were treated with Levetiracetam. EEG revealed focal slowing and epileptiform activity in the left parietal region. The patient was managed with topiramate for her infrequent seizures and as part of treatment of pseudotumour cerebri recurrence in pregnancy. Conclusions: We report a case of early onset calcifications, epilepsy, and the presenting symptom of pseudotumor cerebri in a young patient with LCC. Our patients epilepsy and clinical phenotype is mild, and, similar to other reported cases of late onset LCC, disproportionate to the extensive neuroimaging findings, and would reflect the predominance of extra-cortical change. We will review the epilepsy features in the reported cases of LCC in the literature, and our case adds to the scarce literature on this rare disorder. Funding: nil