Myasthenia gravis complicating the surgical management of achondroplasia: a case‑based update

Child's Nervous System, 2022 · DOI: https://doi.org/10.1007/s00381-022-05617-1 · Published: July 30, 2022

Simple Explanation

Achondroplasia is a genetic condition causing short stature and skeletal abnormalities, sometimes requiring surgery to relieve spinal compression. Myasthenia gravis is an autoimmune disease causing muscle weakness. This paper presents the first reported case of a patient with both conditions. The patient, an 11-year-old girl with achondroplasia, was being monitored for lumbar stenosis when she developed symptoms suggesting worsening spinal compression. However, further investigation revealed myasthenia gravis. The diagnosis of myasthenia gravis altered the patient's management, averting potentially life-threatening complications during surgery for spinal stenosis. This highlights the importance of considering non-surgical causes of neurological symptoms in patients with achondroplasia.

Study Duration

Not specified

Participants

1 patient with achondroplasia and myasthenia gravis

Evidence Level

Case-Based Review

Key Findings

1
This paper reports the first documented case of myasthenia gravis occurring in a patient with achondroplasia.
2
The patient's symptoms of myasthenia gravis mimicked and complicated the symptoms of spinal stenosis related to her achondroplasia.
3
The diagnosis of myasthenia gravis led to a change in management, avoiding potentially dangerous anesthetic complications associated with surgery in myasthenic patients.

Research Summary

This case report describes an 11-year-old girl with achondroplasia who presented with symptoms suggestive of worsening lumbar stenosis. However, she was subsequently diagnosed with myasthenia gravis. The diagnosis of myasthenia gravis was confirmed through electromyography and detection of acetylcholine receptor antibodies. The patient was successfully managed with a combination of pyridostigmine, steroids, azathioprine, and plasma exchange, and surgery for lumbar stenosis was postponed.

Practical Implications

Differential Diagnosis

In patients with achondroplasia presenting with neurological symptoms, clinicians should consider myasthenia gravis as a potential differential diagnosis, especially in cases of acute deterioration.

Preoperative Assessment

Thorough preoperative assessment is crucial to identify co-existing conditions like myasthenia gravis that can significantly impact surgical planning and anesthetic management.

Anesthetic Considerations

Anesthetic management in patients with both achondroplasia and myasthenia gravis requires careful selection and avoidance of muscle relaxants and antibiotics that may exacerbate myasthenic symptoms.

Study Limitations

1
Single case report limits generalizability.
2
Lack of molecular or genetic link established between achondroplasia and myasthenia gravis.
3
Long-term outcomes and optimal management strategies for concurrent achondroplasia and myasthenia gravis remain unclear.

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