Epilepsy and cranial hemangioma in Lowe syndrome

  • Lorenzo MongardiEmail author
  • Giorgio Mantovani
  • Alba Scerrati
  • Pasquale De Bonis
  • Michele Alessandro Cavallo
Letter to the Editor


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...


Oculocerebrorenal Seizures Tumor Lowe syndrome 





Emergency room


Compliance with ethical standards

Conflict of interest

The authors declare that they have no competiting interest.

Ethical approval

This article does not contain any studies with human participants or animals performed by any of the authors.

Informed consent

Written informed consent to publication have been obtained from the legal guardian of the patient.


  1. 1.
    Loi M (2006) Lowe syndrome. Orphanet J Rare Dis 1:16. CrossRefGoogle Scholar
  2. 2.
    Lowe CU, Terrey M, Maclachlan EA (1952) Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity. AMA Am J Dis Child 83:164–184Google Scholar
  3. 3.
    David S, De Waele K, De Wilde B et al (2018) Hypotonia and delayed motor development as an early presentation of Lowe syndrome: case report and literature review. Acta Clin Belg 1:1–5. CrossRefGoogle Scholar
  4. 4.
    Bökenkamp A, Ludwig M (2016) The oculocerebrorenal syndrome of Lowe: an update. Pediatr Nephrol Berl Ger 31:2201–2212. CrossRefGoogle Scholar
  5. 5.
    Erdoğan F, Ismailoğullari S, Soyuer I et al (2007) Different seizure types and skin lesions in oculocerebrorenal syndrome of Lowe. J Child Neurol 22:427–431. CrossRefGoogle Scholar
  6. 6.
    Charnas L (1989) Seizures in the oculocerebrorenal syndrome of Lowe. Neurology 39(suppl):216Google Scholar
  7. 7.
    Carroll WJ, Woodruff WW, Cadman TE (1993) MR findings in oculocerebrorenal syndrome. AJNR Am J Neuroradiol 14:449–451Google Scholar
  8. 8.
    Charnas L, Bernar J, Pezeshkpour G et al (1988) MRI findings and peripheral neuropathy in Lowe’s syndrome. Neuropediatrics 19:7–9. CrossRefGoogle Scholar

Copyright information

© Belgian Neurological Society 2019

Authors and Affiliations

  1. 1.Neurosurgery, Sant’Anna University Hospital FerraraConaItaly
  2. 2.University of Ferrara School of MedicineFerraraItaly

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