Related Experiment Videos
Vanishing cerebellum in myelomeningocoele
Eugen Boltshauser1, Jacques Schneider, Spyros Kollias
1University Children's Hospital, Zurich, Switzerland. eugen.boltshauser@kispi.unizh.ch
Abstract:
Reduced hindbrain herniation observed after intrauterine myelomeningocoele repair suggests that posterior fossa changes in myelomeningocoele are secondary results of prolonged prenatal spinal cerebrospinal fluid leak. Exceptionally, this transforaminal herniation results in 'degeneration' of cerebellar tissue, presumably due to mechanically induced ischaemia. This phenomenon was called 'vanishing cerebellum in Chiari II malformation'. We report three similar cases of this apparently rare finding. Pregnancies were normal. Cerebellar hypoplasia was already recognized in one instance by prenatal ultrasound at gestational week 25. Postnatal imaging was similar in all three patients showing small posterior fossa, beaked midbrain tectum, small brainstem without pontine prominence, reduced cerebellar tissue with virtual absence of one hemisphere and supratentorial hydrocephalus. Our series is too small to draw firm conclusions about predisposing risk factors for and consequences of vanishing cerebellum. Cerebellar damage can interfere with cognitive development, as shown in children with cerebellar agenesis/ hypoplasia, congenital ataxia and small cerebellum following prematurity. A final conclusion on the cognitive consequence of vanishing cerebellum cannot be drawn on the available literature and our limited observations, as one of our patients died at 3 months and another is still too young for appropriate testing. However, the third (aged 15 years) is very severely retarded.
Insights
Intrauterine myelomeningocele repair may reduce hindbrain changes, suggesting prenatal spinal fluid leak causes posterior fossa issues. A rare "vanishing cerebellum" may occur, potentially impacting cognitive development.
Area of Science:
- Neuroscience
- Developmental Biology
- Pediatric Neurosurgery
Background:
- Myelomeningocele is a complex birth defect involving spinal cord and vertebrae malformation.
- Prenatal spinal cerebrospinal fluid (CSF) leak is implicated in posterior fossa abnormalities seen in myelomeningocele.
- Chiari II malformation, characterized by hindbrain herniation, is commonly associated with myelomeningocele.
Observation:
- Reduced hindbrain herniation after intrauterine myelomeningocele repair suggests prenatal CSF leak's role.
- A rare phenomenon termed 'vanishing cerebellum' involves cerebellar tissue degeneration, likely due to ischemia.
- Three cases presented with cerebellar hypoplasia, small posterior fossa, beaked midbrain, and hydrocephalus.
Findings:
- Prenatal ultrasound identified cerebellar hypoplasia as early as 25 weeks gestation.
- Postnatal imaging revealed consistent findings across the three patients, including significant cerebellar tissue reduction.
- The exact predisposing factors and long-term consequences of vanishing cerebellum remain unclear due to limited cases.
Implications:
- Cerebellar damage can significantly impact cognitive development.
- Further research is needed to understand the cognitive outcomes associated with vanishing cerebellum.
- This finding highlights the complex interplay between prenatal interventions, CSF dynamics, and brain development in myelomeningocele.