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A complicated Chiari type 1 malformation and holocord syrinx as a likely cause for heel pain
Robert Henderson1,2,3, Rahul Lakshmanan4,5, Aden McLaughlin4
1Department of Radiology, Perth Children's Hospital, Perth, WA, Australia. hendo.rd@gmail.com.
Insights
A rare Chiari malformation type I was incidentally found in a child with heel swelling. This complex case involved secondary complications, requiring surgical intervention and therapy.
Area of Science:
- Neuroscience
- Developmental Biology
- Pediatric Neurology
Background:
- Chiari malformations are rare rhomboencephalic abnormalities affecting the brain, craniocervical junction, and spine.
- Clinical presentations vary due to involvement of cerebellum, brainstem, cranial nerves, spinal cord, and cerebrospinal fluid (CSF) flow dynamics.
Observation:
- An unusual case of incidental type I Chiari malformation diagnosed in a 5-year-old girl.
- The diagnosis was made during investigation for heel swelling due to progressive neuropathic osteoarthropathy.
- Associated findings included cystic cerebellar tonsillar encephalomalacia and holocord syrinx.
Findings:
- Surgical treatment involved decompressive suboccipital craniectomy, C1 laminectomy, and tonsillar resection.
- Histopathology confirmed cerebellar tonsillar gliosis and cystic degeneration.
- The patient was referred for occupational and physical therapy.
Implications:
- While most pediatric type I Chiari malformations are asymptomatic, this case highlights potential complex associated complications.
- Early diagnosis and intervention are crucial for managing neurological symptoms and associated conditions.
- This case underscores the importance of thorough investigation for rare neurological conditions presenting with atypical symptoms.
Background:
Chiari malformations are a rare group of rhomboencephalic abnormalities involving the brain, craniocervical junction and spine. They may manifest in a variety of clinical presentations which relate to the variable involvement of the cerebellum, brainstem, lower cranial nerves, spinal cord and altered CSF flow dynamics.
Method:
We report an unusual case of incidental diagnosis of a type I Chiari malformation with secondary cystic cerebellar tonsillar encephalomalacia and holocord syrinx following investigation of a 5YO girl presenting with heel swelling related to progressive neuropathic osteoarthropathy of the posterior calcaneal body and apophysis.
Result:
The child was treated with decompressive suboccipital craniectomy and C1 laminectomy and tonsillar resection. Cerebellar tonsillar gliosis and cystic degeneration were confirmed on histopathology. Referral for ongoing engagement with occupational and physical therapy.
Conclusion:
Most type I Chiari malformations in the paediatric population are incidental and asymptomatic. Neurological symptoms are typically mild and relate to altered CSF flow dynamics; however, we present a complex case of type I Chiari malformation with an unusual constellation of associated complications.
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