Clinical Brief Multiple Cavernous Malformations with Supravermian Arachnoid Cyst Aycan Unalp and Nedret Uran Department of Pediatric Neurology, Behcet UZ Child Research and Educational Hospital, Turkey ABSTRACT Cerebral cavernous malformation are congenital vascular abnormalities that have been reported in 0.4% of the population; they represent 5-13% of all cerebrovascular malformations. Onset of cerebral cavernous malformations may be associated with seizures, intracranial hemorrhages, focal neurological deficit or migraine-type headaches. Some patients may require surgical intervention due to hemorrhage. Multiple cavernomas in childhood have been reported in the literature, but they are rare. This manuscript presents a 12-year-old girl with multiple cavernomas accompanied by supravermian arachnoid cyst detected by neuroimaging techniques. This is the first report that demonstrates a case of pediatric multiple cavernous malformation coexisting with arachnoid cyst of the supravermian cistern. [Indian J Pediatr 2007; 74 (11) : 1034-1036] E-mail : aycanunalp@mynet.com Key words : Cavernous malformation; Child, Epilepsy; Arachnoid cyst Cerebral cavernous malformations (CCMs) are congenital vascular abnormalities that can cause seizures, intracranial hemorrhages, focal neurological deficits, and migraine-like headaches.1 Cavernous malformations are rare pathologies that are believed to occur predominantly in adults. On the other hand, by the help of new neuroradiological techniques such as computerized tomography (CT) and magnetic resonance imaging (MMI), it has been demonstrated that these lesions are more common during childhood than what was previously believed.2 This manuscript presents multiple cranial cavernomas accompanied by supravermian arachnoid cyst in a 12-year-old girl who presented with partial epilepsy. To our knowledge, this is the first report that demonstrates a case of pediatric multiple cavernous malformation coexisting with arachnoid cyst of the supravermian cistern. CASE REPORT A 12-year-old girl presented to our hospital upon falling unconscious after moving her eyes to left. Her complaints had started 5-6 years ago. She was transferred to our Correspondence and Reprint requests : Dr. Aycan Unalp, M.D., Arikent Sitesi E-1 Block, Kat:3, Daire: 7, Narlidere-Izmir/Turkey, Phone : 00-90-232 2387097, GSM : 00-90-505 2211693 Fax : 00-90-232 3668530 [Received August 21, 2006; Accepted August 16, 2007] 1034 hospital after multiple hemangioblastomas had been detected in her cranial CT and Von Hippel Lindau syndrome had been suspected in diagnosis in another hospital that she had previously been taken to. The patient's history revealed that she had been born on term via normal vaginal way; her neuromotor progress had been normal; she had been a successful student at school and none of her family members had a neurological disease story. Her general physical and neurological examinations in our hospital revealed no abnormalities, while electroencephalography (EEG) demonstrated disseminated irregular rhythm. Abdominal ultrasound (US) and eye fundus examinations were normal. After our first examination, the patient started receiving valproate for her seizures; however she then had repetitious migraine-type headaches and depression symptoms. We are advised to add antidepressants to her medication by child psychiatrists. Since the patient's condition did not improve, we decided to obtain a cranial MRI. The MRI demonstrated a superior vermian arachnoid cyst and bilateral multiple lesions with indicators of chronic hemorrhage. We suspected a hereditary hemorrhagic telangiectasia (HHT) since imaging findings resembled those of multiple cavernomas. (Fig. 1, 2) After an extensive literature search was made and laboratory test were re-evaluated the patient was diagnosed for multiple cavernous malformation accompanied by supravermian arachnoid cyst. Valproate was replaced by carbamazepine due to hemorrhagic diathesis. The patient is currently followed up on carbamazepine medication. Indian Journal of Pediatrics, Volume 74—November, 2007 Multiple Cavernous Malformations with Supravermian Arachnoid Cyst diagnosed our patient HHT after initially evaluating her cranial MRI; however further detailed investigation of radiological findings, involvement of no other system and no family history led us to exclude HHT. Fig. 1. Cerebral cavernoma in the right frontal lobe Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial syndrome predisposing to a variety of malignant and benign neoplasms, the most common of which are retinal, cerebellar, spinal hemangioblastoma, renal cell carcinoma, pheochromocytoma, and pancreatic tumours. The cardinal features of von Hippel-Lindau syndrome are angiomata of the retina and hemangioblastoma of the cerebellum. Vascular mural nodules are detected along with cystic cerebellar lesions in neuroimaging.5 Cerebellar cyst in our patient was defined as supravermian arachnoid cyst; we did not detect any further mural nodule and pathological contrasting which are required for diagnosis of hemangioblastoma. Thus, VHL was excluded. In one study, three cases of multiple intracranial cavernous malformations and skin angioma associated with middle fossa arachnoid cysts have been reported. Though no relation was confirmed in the pathogenesis of these lesions, this combination could be a new entity of neurocutaneous phacomatosis.6 We believe that in our patient the supravermian cistern arachnoid cyst was detected incidentally. CONCLUSION Fig. 2. MR imaging shows an arachnoid cyst in the supravermian cistern DISCUSSION Intracranial vascular malformations are congenital lesions that occur due to alterations in the development of arteriolocapillary network. Traditionally, they are divided into four according to their histological characteristics: arteriovenous malformations, cavernous angiomas or cavernomas, venous angiomas and telangiectasias. Cavernomas are multilobulated lesions which are clearly delimited and contain blood at different stages of evolution. Histologically they are composed of sinusoidal spaces lined by endothelium and closely interlinked, without intervening nervous tissue.3 Multiple cavernous malformation was diagnosed, after excluding VHL and HHT, in a 12-year-old girl who presented with clinical signs resembling those of partial epilepsy. We would like to emphasize that, a rare disease, MCM should be considered in patients with multiple cavernomas during childhood, and accompanying arachnoid cysts could be detected incidentally. REFERENCES Hereditary hemorrhagic telangiectasia is characterized with arteriovenous malformations in such organs as brain, lung and liver; telangiectasias in skin and mucous membranes; spontaneous repetitious epistaxis; congestive heart failure; and existence of HHT in primary relatives. HHT is possibly or definitively diagnosed when 2 or 3-4 of these findings are positive, respectively. 4 We 1. Lehnhardt FG, von Smekal U, Ruckriem B, Stenzel W, Neveling M, Heiss WD, Jacobs AH. Value of gradient-echo magnetic resonance imaging in the diagnosis of familial cerebral cavernous malformation. Arch Neurol 2005; 62: 653658. 2. Mazza C, Scienza R, Beltramello A, Da Pian R. Cerebral cavernous malformations (cavernomas) in the pediatric agegroup. Childs Nerv Syst 1991; 7 : 139-146. 3. Garcia-Marales I, Gomez-Escalonilla C, Galan L, Rodriguez R, Simon De Las Heras R, Mateos-Beato F. [Cerebral cavernomas in childhood. Clinical presentation and diagnosis]. Rev Neuro 2002; 34: 339-342. 4. Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJJ, Kjeldsen AD, and Plauchu H. Diagnostic Criteria for Hereditary Hemorrhagic Telangiectasia (Rendu-Osler-Weber Syndrome). Am J Med Genet 2000; 91: 66-67. Indian Journal of Pediatrics, Volume 74—November, 2007 1035 A. Unalp and N. Uran 5. Berg BO. Neurocutaneous syndrome: phakomatoses and allied conditions. In Swaiman KF, Ashwal S, eds. Pediatric Neurology, Principles and Practice, 3rd ed. Vol. 2., St Louis Baltimore-Toronto; C.V. Mosby Company, 1999; 539-540. 1036 6. Aiba T, Koike T, Takeda N, Tanaka R. Intracranial cavernous malformations and skin angiomas associated with middle fossa arachnoid cyst: a report of three cases. Surg Neurol 1995; 43 : 31-33. Indian Journal of Pediatrics, Volume 74—November, 2007