# Case Report: Oculomotor Palsy With Cyclic Spasms in a Patient With Charcot-Marie-Tooth Disease Type 1

**Authors:** Konrad P. Weber, Christopher J. Bockisch, Klara Landau

PMC · DOI: 10.3389/fopht.2021.748589 · Frontiers in Ophthalmology · 2021-10-01

## TL;DR

A patient with Charcot-Marie-Tooth disease type 1 developed rare oculomotor palsy with cyclic spasms, suggesting a possible link between the neuropathy and the eye movement disorder.

## Contribution

This case report suggests a potential connection between demyelinating neuropathy and oculomotor palsy with cyclic spasms.

## Key findings

- The patient exhibited oculomotor palsy with cyclic spasms alongside Charcot-Marie-Tooth disease type 1.
- The underlying neuropathy may have made the oculomotor nerve more vulnerable to damage.
- Long-term video oculography documented the progression of symptoms over 14.5 years.

## Abstract

Oculomotor palsy with cyclic spasms is an extremely rare condition whose exact pathophysiology remains a mystery. We followed a boy from the onset of symptoms at the age of ten months until 15 years and documented the case with video oculography. In addition, he was diagnosed with hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease type 1). Although a pure coincidence cannot be ruled out, it is conceivable that the underlying demyelinating neuropathy of this patient rendered the oculomotor nerve more susceptible to damage.

## Linked entities

- **Diseases:** Charcot-Marie-Tooth disease type 1 (MONDO:0019011), hereditary motor and sensory neuropathy (MONDO:0002316)

## Full-text entities

- **Diseases:** Charcot-Marie-Tooth Disease Type 1 (MESH:D002607), hereditary motor and sensory neuropathy (MESH:D015417), Oculomotor Palsy (MESH:D015840), Spasms (MESH:D013035), demyelinating neuropathy (MESH:D003711)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

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## References

11 references — full list in the complete paper: https://tomesphere.com/paper/PMC11182204/full.md

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Source: https://tomesphere.com/paper/PMC11182204