Fourth ventricle hamartoma presenting with progressive myoclonus and hemifacial spasms: case report and review of literature

Zamponi, Nelia; Passamonti, Claudia; Luzi, Michele; Trignani, Roberto; Regnicolo, Luana; Scarpelli, Marina

doi:10.1007/s00381-011-1427-8

Cited by 13 publications

(14 citation statements)

References 18 publications

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“…This was confirmed by other authors 7,9 . Moreover, the lack of a clear‐cut distinction between the lesion and the floor of the fourth ventricle and the disappearance of the episodes after resection or disconnection of the lesion are further elements that are highly suggestive of an intralesional epileptogenicity 1,3,5–9,11,13–17,19 …”

Section: Case Reportssupporting

confidence: 63%

“…These lesions produce paroxysmal and stereotyped attacks of hemifacial spasm and eye blinking associated with autonomic signs such as tachypnoea 2–9 . The onset of attacks usually occurs in the first days of life in otherwise healthy infants 3,5–7,9–17 . Intralesional electrical recordings and functional imaging studies have documented respectively, a hypersynchronous discharge and a hypermetabolism within the lesion and the brainstem nuclei, 3,5–7,9 which is congruent with the peculiar semiology of the paroxysmal attacks.…”

Section: Literature Review Of Published Reports Of Individuals With mentioning

confidence: 74%

“…Neurological examination was normal in 13 of the 20 reported individuals 3,5–7,9–17 . In five, one or more of the following cerebellar signs were described: mild hypotonia, 4,6,10,16 nystagmus, 3,10 mild incoordination, 2 and intention tremor 10 .…”

Section: Clinical Featuresmentioning

confidence: 94%

“…Deviation of the eyes and/or head towards the side of lesion was described in seven individuals 1,3,4,6,10,14–16,19 . Myoclonus of the proximal lower and upper extremities was reported in one individual 17 …”

Section: Clinical Featuresmentioning

confidence: 99%

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Neonatal hemifacial spasm and fourth ventricle mass

Specchio

Trivisano

Bernardi

et al. 2012

Develop Med Child Neuro

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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.

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Section: Case Reportssupporting

confidence: 63%

Section: Literature Review Of Published Reports Of Individuals With mentioning

confidence: 74%

Section: Clinical Featuresmentioning

confidence: 94%

Section: Clinical Featuresmentioning

confidence: 99%

See 2 more Smart Citations

Neonatal hemifacial spasm and fourth ventricle mass

Specchio

Trivisano

Bernardi

et al. 2012

Develop Med Child Neuro

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“…Furthermore, gangliogliomas are among the most common epileptogenic lesions in epilepsy centers [21], harboring a major propensity for spontaneous electrical discharges which probably explains the association of this lesion to this unique syndrome [22]. Not unexpectedly, histological studies of cerebellar or fourth ventricle lesions presenting with subcortical epilepsy were classified as ganglioglioma [2,4,9,10,12,[23][24][25][26][27], hamartoma [8,13,14,28], gangliomatous hamartoma [29], ganglioneurocytoma [30][31][32] or low-grade dense fibrillary astrocytoma [3,15]. Although many of these lesions may carry a developmental origin and actually represent a continuum with FCD, some are not intrinsically epileptogenic [33].…”

Section: Discussionmentioning

confidence: 96%

Dysplastic Cerebellar Epilepsy: Complete Seizure Control Following Resection of a Ganglioglioma

et al. 2015

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Subcortical epilepsy has been a controversial issue, partially settled by evidence showing seizure generation in hypothalamic hamartomas and also by reports of seizures caused by cerebellar lesions. We report 4-year-old girl with right hemifacial seizures and autonomic phenomena, in whom MRI showed an irregular mass in the right cerebellar peduncle. Despite several unremarkable video-EEG recordings, seizure origin in the lesion was hypothesized. Complete resection was feasible, histopathology showed a ganglioglioma, and she has been seizure free for 3 years. A fine line separates these developmental tumors from focal cortical dysplasia, and the homogeneous presentation of this entity led us to propose the terminology dysplastic cerebellar epilepsy.

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Differential Diagnosis of Movement Disorders in Clinical Practice

Rana

Hedera²

2014

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Fourth ventricle hamartoma presenting with progressive myoclonus and hemifacial spasms: case report and review of literature

Cited by 13 publications

References 18 publications

Neonatal hemifacial spasm and fourth ventricle mass

Neonatal hemifacial spasm and fourth ventricle mass

Dysplastic Cerebellar Epilepsy: Complete Seizure Control Following Resection of a Ganglioglioma

Differential Diagnosis of Movement Disorders in Clinical Practice

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