Chiari type II malformation: a case report and review of literature
Mehriban H Yumer1, Sevdalin S Nachev, Todor Y Dzhendov
1Department of General and Clinical Pathology, University Hospital Alexandrovska, Sofia. dr_yumer@mail.bg
Insights
Chiari type II malformation, characterized by spina bifida cystica, often presents with subtle symptoms. Early diagnosis via MRI and prompt surgical intervention for brainstem compression are crucial to reduce mortality in affected neonates.
Area of Science:
- Neurology
- Pediatric Neurosurgery
- Medical Imaging
Background:
- Chiari type II malformation involves cerebellar vermis herniation, hydrocephalus, and spina bifida cystica.
- Spina bifida cystica is a common initial clinical sign, affecting approximately 1 in 2000 neonates.
Observation:
- A case study of a female neonate with lumbosacral spina bifida aperta and flaccid paraplegia.
- The infant developed pneumonia and severe internal hydrocephalus, leading to surgical intervention for meningocele.
Findings:
- Postmortem examination confirmed Chiari type II malformation with internal hydrocephalus and brainstem abnormalities.
- Antemortem diagnosis is challenging without magnetic resonance imaging (MRI), as symptoms can be subtle.
- Brainstem dysfunction is the primary cause of death in children under two with this condition.
Implications:
- Accurate diagnosis requires understanding clinical and pathomorphological features, alongside MRI.
- Early recognition of brainstem compression symptoms and timely surgical decompression can significantly lower mortality rates.
Introduction:
Herniation of cerebellar vermis through the foramen magnum, internal hydrocephaly and spina bifida cystica are the major signs of Chiari type II malformation. Spina bifida cystica (1 in 2000 neonates) is very often the first clinical manifestation of the disease.
Aim:
To discuss the pathomorphology, clinical picture and possible treatment of this underestimated malformation.
Patients And Methods:
Lumbosacral spina bifida aperta and flaccid paraplegia of the lower limbs were found in a female newborn. Later on, pneumonia and evidence of markedly expressed internal hydrocephaly were found. At 48 days of age, surgical correction of the meningocele was undertaken. There was a sudden heart and respiratory arrest at the end of surgery but in spite of the cardiopulmonary resuscitation the infant died 24 hours later.
Results:
Postmortem pathological examination revealed expressed internal hydrocephaly, small posterior fossa, herniation of vermis and atrophic medulla oblongata; presence of these signs verified the Chiari type II malformation. It is very difficult to diagnose this malformation antemortem without magnetic resonance imaging. Brainstem dysfunction is the most common cause of death in children under 2 years of age with Chiari type II malformation. Its clinical manifestation can be episodic and poorly expressed.
Conclusions:
A thorough understanding of this entity (clinical and pathomorphological manifestations) and magnetic resonance imaging are mandatory for the malformation to be diagnosed. Early recognition of symptoms of brainstem compression and a subsequent surgical decompression can decrease the high mortality rate among children with Chiari type II malformation.
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