Epilepsy in KBG syndrome.

AIM: To illustrate the epileptological and electroencephalographic (EEG) characteristics of a cohort of patients with KBG syndrome and epilepsy. METHOD: Clinical history, age at epilepsy onset, seizure types, EEG findings, duration of epilepsy, and response to therapies were retrospectively reviewed in 11 patients (three females, eight males) with KBG syndrome. RESULTS: All detected genetic mutations were pathogenic and affected the C-terminal region at exon 9 of ANKRD11. One patient had 16q24.3 microdeletion including the ANKRD11 gene. Mean age at onset was 67 months. Epilepsy type was focal in five patients and generalized in four. Two patients had developmental and epileptic encephalopathies. Seizure freedom was obtained after a period varying between 15 days and 6 years. INTERPRETATION: In our patients, epilepsy appeared to respond well to treatment and, in some cases, to be self-limiting. The molecular characteristics of our patients' genetic abnormalities did not point towards any specific epilepsy hot spot. Epilepsy should be considered in the diagnostic work-up of patients with KBG syndrome. WHAT THIS PAPER ADDS: Some of the epilepsy types of KBG syndrome appear to be self-remitting. The epilepsy phenotypes associated with KBG syndrome are quite variable.

Opsoclonus-Myoclonus Syndrome in Children and Adolescents: A Therapeutic Challenge.

Opsoclonus-myoclonus syndrome (OMS) is a neurological non-fatal disease that usually responds to immunotherapies. However, the real challenge is to counteract the high frequency of relapses and long-term developmental sequelae. Since the OMS is extremely rare, a common consensus regarding therapeutic guidelines is still lacking. The goals of this study were to test whether ACTH was superior to other immunotherapies and to investigate whether an early treatment could improve the outcome. Sixteen children affected by OMS were retrospectively reviewed. Eight children had a neuroblastic tumor. The other eight patients were affected by non-paraneoplastic OMS. Overall, the most commonly used treatment was corticotherapy (n = 11). However, ACTH (n = 10), rituximab (n = 7), immunoglobulins (n = 4), cyclophosphamide (n = 3), and mycophenolate (n = 2) were also administered. ACTH was associated with a high percentage of patients who healed (80%) and, as a first-line therapy, was associated with a lower incidence of relapses. An early treatment was associated with a favorable long-term outcome. Long-term sequelae occurred in 42% of patients who were treated early and in all of those who were treated late. It is advisable for the affected children to be identified at an early time, as they may benefit from an early treatment. ACTH represents an effective treatment with a high probability of recovery and low rate of relapses.

Evaluation of Skull Base Tumors with Dynamic TurboFLASH MRI during Gadolinium Injection.

Background and Purpose This study was aimed to investigate the role of dynamic TurboFLASH gadolinium (Gd) magnetic resonance (MR) imaging in improving the differential diagnosis of skull base tumors. Methods Eleven patients with skull base tumors underwent standard MR and ultrafast TurboFLASH sequence during gadolinium injection. Results The characterization of tumor vascularity was performed. Different patterns of gadolinium uptake for each tumor type were observed. This is particularly important to identify tumors at high risk of intraoperative bleeding. All glomus tumors, typically highly vascularized, showed an enhancement at the arterial phase, reflecting the arterialization of these tumors which is not detectable on conventional MR. No signal increase at the arterial phase was instead observed in other cases in which the ruling out of a glomus tumor was important because of the location of the lesion. Moreover TurboFLASH identified the pathognomonic "filling-in" profile of cavernous sinus cavernous hemangiomas (CSCH), that is, the progressive centripetal enhancement of the lesion at the beginning of the venous phase. Conclusion The dynamic analysis of tumor contrast enhancement with the TurboFLASH sequence provides useful additional information to that obtained with conventional MR, improving the differential diagnosis of skull base tumors, particularly in the distinction between glomus and nonglomus tumors and in diagnosing CSCH.