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Hemifacial spasm or subcortical epilepsy?
A A Arzimanoglou1, F Salefranque, F Goutières
1Child Neurology and Metabolic Diseases Dpt., Hôpital Robert-Debré, Paris, France. alexis.arzimanoglou@rdb.ap-hop-paris.fr
Insights
Goldenhar syndrome in a child caused hemifacial contractions resembling seizures and later, eye and chin movements indicative of myorhythmias. An MRI revealed a pontomedullary junction lesion, potentially explaining both conditions.
Area of Science:
- Neurology
- Developmental Biology
- Genetics
Background:
- Goldenhar syndrome, a rare congenital disorder, involves abnormal development of the first and second branchial arches.
- Early-onset neurological manifestations in Goldenhar syndrome are not well-characterized.
Observation:
- A neonate with Goldenhar syndrome presented with paroxysmal hemifacial contractions, mimicking partial seizures or hemifacial spasm.
- Later, the patient developed permanent, rhythmic eye and chin movements consistent with myorhythmias, suggesting dentato-olivary pathway involvement.
Findings:
- Magnetic Resonance Imaging (MRI) revealed a hamartomatous lesion at the pontomedullary junction.
- The lesion's location and nature are hypothesized to be the cause of both the initial hemifacial contractions and the subsequent myorhythmias.
Implications:
- This case suggests a potential link between pontomedullary hamartomas and specific movement disorders in Goldenhar syndrome.
- Understanding this association may improve diagnostic approaches and therapeutic strategies for neurological complications in this syndrome.
- The findings highlight the intricate relationship between developmental abnormalities and neurological sequelae.
Abstract:
A child with Goldenhar's syndrome presented at about one week of age with stereotyped, repetitive paroxysmal episodes of hemifacial contraction, suggestive of partial seizures or hemifacial spasm. Later in life he also developed independent, permanent abnormal eye and chin movements identical in rhythm to those seen in myorhythmias, suggesting involvement of the dentato-olivary pathway. MRI demonstrated a hamartomatous lesion at the level of the pontomedullary junction. We speculate that the nature of the lesion could be responsible for the partial seizures mimicking hemifacial spasm and that because of its location, this same lesion could also be implicated in the genesis of myorhythmias. The presence of a hamartomatous lesion in a region affected by the abnormal development of the first and second branchial arches is not fortuitous.