Related Experiment Videos
Neurofibromatosis type II presenting as vertical diplopia
Ahmed Sokwala1, Christopher Knapp, Irene Gottlob
1Marmara University School of Medicine, Istanbul, Turkey.
Strabismus
|September 17, 2004
Summary
Neurofibromatosis type II (NF II), a rare genetic disorder, typically causes hearing loss. This case highlights NF II presenting unusually with vertical double vision from cranial nerve palsy, despite minimal symptoms.
Area of Science:
- Neuro-oncology
- Ophthalmology
- Genetics
Background:
- Neurofibromatosis type II (NF II) is a rare genetic disorder characterized by the development of tumors, primarily schwannomas, affecting cranial and peripheral nerves.
- Typical presenting symptoms include bilateral vestibular schwannomas leading to hearing loss, tinnitus, and balance issues, usually in the third decade of life.
Observation:
- A rare case of Neurofibromatosis type II (NF II) is presented with an unusual initial manifestation.
- The patient experienced vertical diplopia, a form of double vision, attributed to a palsy of the fourth cranial nerve (trochlear nerve).
Findings:
- Despite the presence of multiple extensive lesions identified on Magnetic Resonance Imaging (MRI), the patient remained largely asymptomatic.
- This contrasts with the typical symptomatic presentation of NF II, emphasizing the variability in clinical manifestation.
Implications:
- This case underscores the importance of considering atypical presentations of Neurofibromatosis type II (NF II), even in the absence of common symptoms like hearing loss.
- Recognizing unusual neurological deficits, such as fourth nerve palsy causing vertical diplopia, is crucial for early diagnosis and management of NF II.
- The findings suggest that extensive disease burden in NF II may not always correlate with overt clinical symptoms, necessitating thorough diagnostic evaluation.