Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital syndrome with an unknown etiology. Since 1970, around 60 cases have been reported in English literature. ECCL is usually classified by cutaneous lesions and non-progressive intracranial or spinal lipomas; however three cases of ECCL associated with low grade glioma (LGG) have been described. We report on the fourth case of LGG in a patient with ECCL; a grade II pilocytic astrocytoma with pilomyxoid features in a 3-month-old male, the youngest in literature.
We report a case of a four-year-old male who presented with symptoms of brainstem compression and lower cranial nerve neuropathies. MRI revealed a large, pre-pontine mass causing brainstem compression with an uncertain intra-axial component. Using diffusion tensor imaging (DTI) tractography and other imaging modalities, we were able to confirm that the lesion was extra-axial and did not involve the corticospinal tracts. In addition, DTI tractography illustrated that corticospinal tracts were displaced to the right obligating a left-sided approach. Upon resection, the mass was identified as a pre-pontine, extra-axial neurenteric cyst (NEC), which represents a rare finding in the pediatric population. The patient ultimately did well following the drainage and resection of the cyst wall and had excellent recovery. In this paper, we discuss the pathophysiology of and treatment options for NECs and explain how DTI tractography in our case assisted in planning the surgical approach.
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