A bicarotid trunk with associated right retroesophageal subclavian artery in a child with neurofibromatosis type 1 complicated by a left hemispheric stroke

Guarnizo, Angela; Erripa, José I.; Rugilo, Carlos

doi:10.1007/s00276-023-03253-1

Cited by 1 publication

(1 citation statement)

References 15 publications

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“…NF1 is mainly characterized by multiple café-au-lait spots on the skin, retinal iris patches, subcutaneous, or fascicular neurofibromas, and its occurrence is related to the loss of the NF1 tumor suppressor gene mutation ( 7 , 8 ). NF2 is mainly characterized by bilateral vestibular schwannomas and can be accompanied by cataracts and tumors in other parts such as the brain, spinal cord, and periphery, and its occurrence is mainly caused by germline or somatic mutations and deletions of the NF2 gene ( 9 , 10 ). Schwannomatosis (NF3) is characterized by having multiple schwannomas throughout the body without bilateral vestibular schwannomas or dermal schwannomas, and according to whether the tumors have a genetic basis, which can be divided into sporadic and familial forms ( 11 ).…”

Section: Introductionmentioning

confidence: 99%

18F-FDG PET/CT revealed sporadic schwannomatosis involving the lumbar spinal canal and both lower limbs: a case report

Li,

Hu,

Wang

et al. 2024

Front. Med.

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Schwannomatosis is a rare autosomal dominant hereditary syndrome disease characterized by multiple schwannomas throughout the body, without bilateral vestibular schwannoma or dermal schwannoma. The most common location of schwannomatosis is the head and neck, as well as the limbs, while multiple schwannomas in the lumbosacral canal and lower extremities are relatively rare. In this study, we report a 79-year-old woman diagnosed with schwannomatosis. MRI and contrast-enhanced imaging revealed multiple schwannomas in both lower extremities. An 18F-FDG PET/CT examination revealed that in addition to multiple tumors with increased 18F-FDG uptake in both lower extremities, there was also an increased 18F-FDG uptake in a mass in the lumbosacral canal. These masses were confirmed to be schwannomas by pathology after surgery or biopsy. 18F-FDG PET/CT findings of schwannomas were correlated with MRI and pathological components. Antoni A area rich in tumor cells showed significant enhancement on contrast-enhanced T1WI, and PET/CT showed increased uptake of 18F-FDG in the corresponding area, while Antoni B region rich in mucus showed low enhancement on contrast-enhanced T1WI, accompanied by a mildly increased 18F-FDG uptake.

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