Extensive Cavernous Hemangioma of the Brainstem

What is it about?

We present the case of a 14-year-old Caucasian female, with intracranial hemorrhage due to an extensive brainstem cavernous hemangioma, asymptomatic until the date of her admission. Further investigation revealed multiple brain cavernous hemangiomas with two supratentorial hemangiomas demonstrating signs of past bleeding, a cervical vertebral dysplasia (Klippel-Feil type II) and nephrolithiasis, in addition to her history of polycystic ovaries and impaired glucose tolerance, all together presenting a novel clinical combination. We are describing the management of such a patient, according to our current knowledge, inquiring into the possible connections between the conditions detected, as well as, discussing the questions that arise from this rare case.

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Why is it important?

It is evident that there is a great combination of CMs which implicates defects during a specific period of embryogenesis. However, this is not an absolute principle; in certain mal-developments of the brain, which, most probably, had originated during the embryonic period, all the other organs retain their normal developmental path. One can only assume that the brain is more vulnerable than any other organ to prenatal as well as natal influences, even if, so far, the possible connection between genetic defects, metabolic disorders and exogenous effects that lead to combined CMs can only be inferred. We presented a novel combination of extensive cerebral cavernous hemangioma of the brainstem in an adolescent Caucasian female patient, with multiple cavernomatosis, coexistent with Klippel Feil type II, nephrolithiasis, PCOS and glucose intolerance. This is a novel combination that has never been previously reported in the literature.

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