Epilepsy and cranial hemangioma in Lowe syndrome
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LETTER TO THE EDITOR
Epilepsy and cranial hemangioma in Lowe syndrome Lorenzo Mongardi1 · Giorgio Mantovani2 · Alba Scerrati1 · Pasquale De Bonis1 · Michele Alessandro Cavallo1 Received: 12 November 2018 / Accepted: 4 June 2019 © Belgian Neurological Society 2019
Keywords Oculocerebrorenal · Seizures · Tumor · Lowe syndrome Abbreviations OCRL Oculocerebrorenal ER Emergency room
Introduction We present a case of a young male diagnosed with Lowe syndrome and recent tonic–clonic seizures due to an intracranial capillary hemangioma of the skull. Considered the strong association between OCRL and epilepsy, a patient presenting seizures could be considered a syndromic case, with no need of further investigations. So, secondary causes have always to be considered and a complete diagnostic path must be routed. To our knowledge, there have been no published reports of intracranial and extradural tumor associated with this syndrome.
Case presentation A 19-year-old male patient was diagnosed with Lowe syndrome in childhood. He developed all the typical features of the syndrome and presented at Emergency Room (ER) with generalized tonic–clonic seizures. Several months earlier he developed an isolated tonic–clonic seizure. No more investigations were requested at that time. Emergent CT scan showed a grossly skull thickening in right temporo-parietal region, the mass was clearly * Lorenzo Mongardi [email protected] 1
Neurosurgery, Sant’Anna University Hospital Ferrara, Via Aldo Moro 8, 8‑44124 Cona, FE, Italy
University of Ferrara School of Medicine, Via Ludovico Ariosto, 35‑44121 Ferrara, Italy
2
displacing brain parenchyma. Serum electrolyte levels and renal function were determined, without relevant alterations. EEG evidenced focal epileptic waves in the same region and MR excluded cortical dysplasia suggesting a hemangioma. Antiepileptic therapy was started with Lamotrigine and selective arterial embolization was performed. Then, a radical asportation of the lesion was performed. Surgical access revealed a clearly pathological bone, and an extemporaneous histological examination excluded a sarcomatous lesion. Post-op CT did not show any complication. The patient has not developed other epileptic crisis since then. Definitive histological examination concluded with a diagnosis of capillary hemangioma (ICD-10 D18.00) and excluded the presence of type 3 cortical dysplasia around the lesion.
Discussion and conclusions Oculocerebrorenal syndrome (OCRL), also known as Lowe syndrome, is a rare X-linked disorder (OMIM #309000) and a prevalence of 1 in 500,000 [1]. It is caused by mutations in OCRL gene (Xq25–26). The encoded protein is involved in multiple biochemical pathways, but a clear understanding of pathological mechanism is still missing [1]. The syndrome was first described by Lowe et al. [2] with the combination of congenital cataracts, severe mental impairment and renal tubular disfunction. Usually, patients show at birth muscular hypotonia [3] and develop behavioral disturbances with
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