Recurrent Pseudotumor Cerebri in Childhood: A Case of Neuro-Behçet Disease Complicated With Thrombotic Risk Factors

Abstract

Pseudotumor cerebri with or without venous sinus thrombosis is a rare clinical presentation of Behçet disease in childhood. We present here a case of childhood pseudotumor cerebri without a previous diagnosis of Behçet disease. The detailed history and physical examination of the case led to the diagnosis of neuro-Behçet disease. The investigation of predisposition to thrombosis revealed heterozygous factor V Leiden mutation along with the high lipoprotein(a) level. The symptoms resolved dramatically by treatment with the combination of immunosuppression and anticoagulation with regard to the detected factor V Leiden mutation and high lipoprotein(a) level. After a symptom-free period of 9 months, the cerebral vein thrombosis recurred. We present this case to draw attention to this rare cause of pseudotumor cerebri in childhood and to emphasize the importance of additional thrombotic risk factors regarding the potential recurrence of thrombotic events in Behçet disease.

Neuro-Behçet’s disease in childhood: A focus on the neuro-ophthalmological features

“…Sixty-nine patients (53%) originated from the so-called “silk road” stretching from Morocco to Japan [14,17,18,28,30-33,35,37-42,44,48-50]. The large majority of these subjects (64/69 subjects) were from Western Asia, and only five were from other regions along this historical route [31,41].…”

“…We tabled the neuro-ophthalmological features for each of these subjects [14,26,27,33-38,40-42,44-48,50]. Data referring to the 14 cases having the parenchymal form are detailed in Table 2.…”

“…In 12/53 patients (23%), neurological and/or ophthalmological symptoms anticipated any other major or minor criteria for a diagnosis of BD [14,26,27,33,34,36,40,44,47,48], and in seven additional patients, only previous oral/genital aphtae were recalled by the patient [14,35,38,41,42,45,50]. NBD was diagnosed at presentation in 13 subjects [14,36,37], and before neurological involvement in 21 patients [14,46,48].…”

“…Details on the therapy were available for 28 subjects (53%): steroids (oral and/or intravenous) were the most administered treatment (26 patients, 93%); [26,27,33-38,40-42,45-48,50] followed by colchicine (14 patients, 52%); [35,40,42,45,48,50] azathioprine (12 patients, 44%); [34,42,46-48,50] cyclosporine (five patients, 19%); [34,37,41,46,48] methotrexate (four patients, 15%); [36,41,45] anti-tumour necrosis factor drugs (three patients, 11%); [45-47] cyclophosphamide (two patients, 7%); [46,48] and chlorambucil (one patient, 4%) [27]. Adjunctive treatments consisted of anti-seizure medications, anti-coagulants, aspirin, and acetazolamide [27,34-37,42,44,48,50]. Seven patients had relapses of the neuro-ophthalmological symptoms and required renewal of therapy or implementation of ongoing immunosuppressive treatment.…”

“…One patient presenting with the vascular form died as a consequence of the rupture of a cerebral aneurysm (presence of multiple aneurysms) [27]. In the large majority of the patients, a complete recovery or significant improvement was reported [14,26,33-38,40-42,44-48,50]. …”