Neurofibromatosis type 1 presenting with Horner's syndrome

Cackett, Peter; Vallance, J; Bennett, Harry

doi:10.1038/sj.eye.6701478

Cited by 9 publications

(4 citation statements)

References 4 publications

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“…8 To my knowledge, however, this patient is the first reported case of NF2 presenting with Horner syndrome. As spinal tumours are frequent in NF2, this is an ophthalmologic manifestation that ought to be kept in mind.…”

Section: Commentmentioning

confidence: 69%

Horner's syndrome: an atypical presentation in a child with neurofibromatosis type 2

Holmström

2006

Eye

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Section: Commentmentioning

confidence: 69%

Horner's syndrome: an atypical presentation in a child with neurofibromatosis type 2

Holmström

2006

Eye

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“…Lesion of the sympathetic chain at the preganglionic level often produces the full symptoms of Horner′s syndrome, including anhydrosis, although it can be seen in central Horner′s also. Preganglionic sympathetic lesions most commonly result from thoracic or cervical tumors [1,5].…”

Section: Discussionmentioning

confidence: 99%

Malignant Peripheral Nerve Sheath Tumor Presenting as Horner′s Syndrome

Azharudeen¹,

Selvaraj²,

Pillai³

et al. 2021

Cureus

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Malignant peripheral nerve sheath tumor (MPNST) is a rare, aggressive sarcomatous tumor that arises from peripheral nerve sheath and shows Schwann cell differentiation. They are commonly seen among cases with existing benign plexiform neurofibromas, prior radiation treatment, and large germline mutations involving the entire neurofibromatosis 1 (NF1) gene. MPNST can have varied presentations; hence diagnosis remains a great challenge. Here we report a rare case of MPNST in an NF1 patient who presented with Horner´s syndrome. A young male reported swelling in the neck, dyspnea on exertion, and dysphagia. Subsequently, he was diagnosed to have a malignant peripheral nerve sheath tumor arising from the mediastinum and compressing the ipsilateral cervical sympathetic plexus causing Horner′s syndrome. The patient underwent surgical resection of the mediastinal mass followed by chemotherapy. His symptoms improved significantly following treatment. This case report emphasizes the fact that high suspicion of MPNST is required when NF1 cases present with mass lesions, so that early surgical clearance with chemoradiation may offer a nearcomplete cure.

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“…The mechanism of Horner's syndrome in this patient could be due to the sudden increase in the size of the tumor due to bleed, causing mass effect on the ascending second-order neuron from the ciliospinal center of Budge–Waller to superior cervical ganglia. In the past, few cases[34567] of Horner's syndrome in patients with NF have been reported, which are summarized in Table 1.…”

Section: Discussionmentioning

confidence: 99%

Atypical presentation of extraspinal neurofibroma presenting with acute-onset monoparesis and Horner's syndrome: Case report and review of literature

Nehete

Konar

Nandeesh

et al. 2019

J Craniovert Jun Spine

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The clinical presentation of spinal or extraspinal neurofibroma is radiculopathy or myelopathy, pain, and motor weakness. Extraspinal neurofibroma presenting with acute-onset monoparesis and Horner's syndrome is very rare. We report the case of a 55-year-old female who presented with acute-onset monoparesis of the left upper limb along with left-side drooping of the eyelid. Imaging revealed C6–D2 extraspinal solitary mass lesion lateral to spinous process with bleed without intraspinal component. The patient underwent an anterior cervical approach and excision of the tumor. Final biopsy report was a neurofibroma. At 3-year follow-up, she recovered from motor weakness, and Horner's syndrome subsided. Extraspinal neurofibroma can present with acute bleed, and surgical outcome is superior in early intervention.

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Neurofibromatosis type 1 presenting with Horner's syndrome

Cited by 9 publications

References 4 publications

Horner's syndrome: an atypical presentation in a child with neurofibromatosis type 2

Horner's syndrome: an atypical presentation in a child with neurofibromatosis type 2

Malignant Peripheral Nerve Sheath Tumor Presenting as Horner′s Syndrome

Atypical presentation of extraspinal neurofibroma presenting with acute-onset monoparesis and Horner's syndrome: Case report and review of literature

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