We present a complex case of dorsolumbosacral agenesis associated with a nonterminal myelocystocele and secondary tonsillar herniation. The secondary tonsillar herniation, mimicking a Chiari I malformation, was evident at postnatal life with concomitant enlargement of the myelocystocele. Prenatal and postnatal MRI proved invaluable in recognizing temporal change in the position of the cerebellar tonsils. Postmortem examination confirmed the presence of a nonterminal myelocystocele and dorsolumbosacral agenesis.
- Caudal regression syndrome
- Cerebellar tonsillar herniation
- Dorsolumbosacral dysgenesis
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Clinical Neurology