Reverse Cervical Lordosis Caused by Giant Vertebral Artery Aneurysm in von Recklinghausen Disease.

Neurofibromatosis type 1 (NF1) is a variable penetrance autosomal dominant condition predominantly involving the peripheral nervous system. NF1 exhibits a wide spectrum of clinical patterns involving the skin, eye, brain, spinal cord, and, to a lesser extent, long bones and arteries. Arterial stenosis or aneurysms have been variously studied, but the association with NF1 has not been firmly established. A 31-year-old gentleman with NF1 experienced progressive neck pain over a five-month period, associated with limited range of motion and dysphagia. Magnetic resonance imaging (MRI) of the cervical spine suggests paraspinal plexiform neurofibromas with excessive reverse cervical lordosis. Further workups revealed a large left vertebral artery fusiform aneurysm and a pseudoaneurysm. The patient made a full recovery following endovascular embolization. It is crucial to maintain a high index of suspicion for vascular malformations in patients with NF1. The pathogenesis of vascular manifestations in NF1 and options for therapeutic management were discussed.

Misdiagnosis of elevation of ß-hCG in cystic craniopharyngioma: illustrative case.

BACKGROUND: Craniopharyngiomas and germ cell tumors (GCTs) are both rare intracranial tumors commonly present in childhood or middle age. They share similar clinical and radiological features. GCTs commonly give rise to tumor markers in the cerebrospinal fluid, hence guiding the treatment plan. OBSERVATIONS: This article reports the case of a 5-year-old boy with a large sellar and suprasellar mass with obstructive hydrocephalus. Laboratory studies showed increased beta-human chorionic gonadotrophin (ß-hCG) levels in the cystic fluid, suggestive of choriocarcinoma. He underwent 3 cycles of chemotherapy but showed a poor response. Further aspiration followed by tumor debulking was performed, and histopathological examination revealed craniopharyngioma. LESSONS: This case report indicates that ß-hCG, commonly regarded as a specific tumor marker for choriocarcinoma, is detectable in other forms of suprasellar tumors. The authors highlight clinical and radiological features of suprasellar tumors that can be misdiagnosed as intracranial GCTs. The relevance of tumor markers and indications for histopathological confirmation are discussed.