Neonatal hemifacial spasm and fourth ventricle mass

Abstract

Congential hemifacial spasm is a rare condition that is characterized by the occurrence of paroxysmal hemifacial contractions in neonates. We review the clinical, neurophysiological, neuroimaging, and histopathological findings, as well as the differential diagnosis, therapeutic approach, and outcome of all the described cases. Moreover, we report two new cases including the ictal video-electroencephalography recordings. Hemifacial spasm starts early in life, and is characterized by unilateral, involuntary, irregular tonic or clonic contractions of muscles innervated by the seventh cranial nerve. Hemifacial spasm is associated with eyelid blinking, and sometimes with breathing irregularities, hyperventilation, and ⁄ or other neurological manifestations (dystonic movements, nystagmus). Interictal and ictal video-electroencephalography did not reveal epileptiform abnormalities. In all cases, brain magnetic resonance imaging showed a mass involving the cerebellar peduncle, the cerebellar hemisphere, or the floor of the fourth ventricle. The semiology of the paroxysmal attacks is probably due to the activation of cranial nerve nuclei through intralesional hypersynchronous discharges, as shown by the intraoperative recordings and functional brain imaging described in the literature. We point out the importance of identifying such seizures in order to make an early diagnosis of the underlying cerebral lesion.

Laser interstitial thermal therapy in pediatric cerebellar epilepsy

“…Several cases of focal-onset epilepsy manifesting with hemifacial spasms and associated with a cerebellar tumor adjacent to the fourth ventricle have been reported in recent years. 4,6 Specchio et al 3 reviewed 20 cases of hemifacial spasms due to a cerebellar tumor near the superior cerebellar peduncle. In all 20 cases, ASM was ineffective, and seizure remission was finally achieved by tumor resection or disconnection.…”

“…Although epileptic seizures are typically generated in cortical neurons, whereas subcortical structures commonly play a modulatory role, several studies have supported seizure generation within these structures 1 . Specifically, the intrinsic epileptogenicity of cerebellar lesions has been demonstrated by invasive recordings 2 and further substantiated by postsurgical seizure freedom following the resection of these epileptogenic lesions 3 . Hemifacial spasm with onset in early life constitutes the most typical seizure semiology arising from glioneuronal tumors or hamartomas localized in the right superior cerebellar peduncle protruding in the roof of the fourth ventricle 4 .…”

“…1 Specifically, the intrinsic epileptogenicity of cerebellar lesions has been demonstrated by invasive recordings 2 and further substantiated by postsurgical seizure freedom following the resection of these epileptogenic lesions. 3 Hemifacial spasm with onset in early life constitutes the most typical seizure semiology arising from glioneuronal tumors or hamartomas localized in the right superior cerebellar peduncle protruding in the roof of the fourth ventricle. 4 Cerebellar seizures are reportedly refractory to antiseizure medication (ASM).…”

Ictal Blinking in Hepatic Encephalopathy Pre- and Post-Liver Transplant: Report of Eight Patients

“… 14 Bilateral blinking was reported in a fourth ventricular mass. 15 Two adults with unilateral and bilateral blinking have been reported in focal epilepsy. 12 All these associations prove that IB had no localizing value.…”

Ocular Motor Paroxysmal Events in Neonates and Infants: A Review of the Literature

“…IB can be unilateral or bilateral; it can occur as the only clinical seizure manifestation or it can be associated with other ictal motor manifestations. IB have occasionally been described in infancy [53,55,56,57]. Ictal Video-EEG pattern is characterized by a rhythmic activity arising from occipital area most frequently ipsilateral to IB.…”