[Spasmus nutans and vermian agenesis: case report]
M-A Radouani1, S Azzaoui1, M Kabiri1
1Service de médecine et réanimation néonatales, centre national de néonatologie et nutrition, hôpital d'Enfants, centre hospitalier Ibn Sina, boulevard Ibn Rochd, Souissi, 10100 Rabat, Maroc; Équipe de recherche en santé et nutrition du couple-mère-enfant, faculté de médecine et de pharmacie de Rabat, université Mohammed V Souissi, Rabat, Maroc.
Summary
Spasmus nutans, a triad of infant head nodding, torticollis, and nystagmus, is rarely associated with brain malformations. This case highlights a link between spasmus nutans and agenesis of the median vermian cerebellum.
Area of Science:
- Neurology
- Pediatrics
- Neuroscience
Background:
- Spasmus nutans is an infantile syndrome characterized by torticollis, head nodding, and nystagmus.
- Typically, neuropediatric and ophthalmologic evaluations are normal in spasmus nutans.
- Association with non-evolutive encephalopathy has not been previously reported.
Observation:
- A 3-month-old infant presented with a one-week history of head nodding and left eye nystagmus, following a lung infection.
- Ophthalmologic examination and electroencephalography (EEG) were normal.
- Cerebral magnetic resonance imaging (MRI) revealed partial agenesis of the median vermian cerebellum.
Findings:
- The case demonstrates a novel association between spasmus nutans and a specific brain malformation: agenesis of the median vermian cerebellum.
- This finding suggests a potential link between congenital cerebellar abnormalities and the development of spasmus nutans.
- The non-evolutive nature of the encephalopathy is a key characteristic.
Implications:
- This case expands the known spectrum of conditions associated with spasmus nutans.
- Further investigation, including genetic studies, is warranted to elucidate the underlying mechanisms.
- Highlights the importance of neuroimaging in infants presenting with spasmus nutans, even with normal initial examinations.
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