MON-322 Intrathoracic Meningocele Associated with Neurofibromatosis Type 1: A Case Report

Abstract

Background: Intrathoracic meningocele is a relatively rare condition, with 60 to 85% of cases being associated with neurofibromatosis type 1. In most cases, meningoceles are small and asymptomatic, and regular follow-up with periodic imaging is recommended without a surgical approach. Most patients become symptomatic between 30 and 50 years of age. Surgical treatment is indicated only when there is an accelerated growth of the meningocele or when the patient presents intense symptoms due to the compression of adjacent structures. Clinical Case: CRSG, 39 years old, female, with non-consanguineous parents. Patient referred to Endocrinology at age 20 by dermatology with the diagnosis of neurofibromatosis made because of the presence of cutaneous neurofibromas and cafe au lait spots. Her father had neurofibromatosis and C-cell hyperplasia diagnosed after total thyroidectomy, and the genetic analysis of RET oncogene was negative. During follow-up, patient evolved with complaints of paresthesia in bilateral upper limbs and mechanical type cervicalgia. In cervical spine MRI, dural ectasia was observed from C4 to T2 levels, with enlargement of the vertebral canal and remodeling of the posterior wall of the vertebral bodies. In parallel, the patient had a diagnosis of primary hyperparathyroidism with serum calcium of 10.7mg/dL(8.6-10.2), vitamin D 29.8ng/dL(>20), PTH 115pg/ml(15-65) and serum phosphorus of 2.2mg/dL(2.8-4.1), and normal renal function. 99mTc-sestamibi scan showed an increased parathyroid gland posterior to the superior pole of the right lobe of the thyroid. After discussion of the case with Neurosurgery and Neuroradiology, it was then hypothesized as a cervical-thoracic meningocele and opted for conservative treatment followed by serial imaging, due to the high surgical risk and little clinical compromise of the patient at the time. Subsequently, she evolved with nausea, intermittent vomiting that made her need daily antiemetic medication. We considered the hypotheses of emesis secondary to hypercalcemia and/or secondary to cerebrospinal fluid hypotension caused by meningocele. Treatment with pamidronate was initiated and the patient and is still under evaluation for probable intracranial cerebrospinal fluid hypotension. Conclusion: Neurological complaints are common during the follow-up of patients with neurofibromatosis and their differential diagnosis is of great importance for adequate therapeutic management. Regarding the main tumor lesion, in addition to the mentioned meningocele in the case, it should be differentiated from neurofibroma, neuroblastoma, ganglioneuroma and cystic hygromas of the posterior mediastinum. Reference: Huang TW, Huang HP, Ye QY, et al. A neurofibromatosis type 1 patient with thoracic encapsulated fluid and intracranial hypotension syndrome: a case report. Neurologist 2011;17:167-171.