Neurology India Medknow Publications on behalf of the Neurological Society of India ISSN: 0028-3886 EISSN: 1998-4022 Vol. 58, Num. 5, 2010, pp. 790-791

Neurology India, Vol. 58, No. 5, September-October, 2010, pp. 790-791

Letter to Editor

Chronic progressive external ophthalmoplegia with recurrent quadriparesis : An unusual presentation

NK Rai¹, MC Sharma², K Prasad¹, S Jetli¹, M Tripathi¹, MV Padma¹

¹ Department of Neurology, All India Institute of Medical Sciences, New Delhi, India
² Department of Pathology, All India Institute of Medical Sciences, New Delhi, India

Correspondence Address:
K Prasad
Department of Neurology, All India Institute of Medical Sciences, New Delhi
India
kprasad154@gmail.com

Date of Acceptance: 26-Oct-2010

Code Number: ni10219

PMID: 21045517

DOI: 10.4103/0028-3886.72176

Sir,

A 32-year-old lady, product of nonconsanguineous marriage, with normal perinatal and developmental history presented with history of nonprogressive, mild proximal limb-girdle weakness and mild exercise intolerance since childhood. She was referred from another hospital with history of three episodes of acute pure motor flaccid quadriparesis, with near-complete recovery in the last four years. First episode occurred four years back, on postpartum day-3, when she developed acute flaccid quadriplegia, which progressed for two days, without unconsciousness; and without cranial nerves, sensory or sphincter involvement. On third day, she developed breathlessness and received intravenous immunoglobulins (IVIg) 2 g/kg over five days. She improved over 6 to 8 weeks and achieved independent activities of daily living ADL in the next three months. Two years later, she developed high-grade fever, followed by similar pure motor quadriplegia; and required mechanical ventilation for the next two months, followed by gradual improvement. Her last episode occurred six months back, similar to previous episodes. There was no history suggestive of diurnal variation in power, muscle cramp, fasciculations, rashes, joint pain, abdominal pain or myoglobinuria or other comorbid illness. Family history was noncontributory. Her routine biochemical parameters, including serum potassium during episode, were normal.

Examination revealed mild bilateral ptosis and extra-ocular muscles weakness in all directions, without diplopia. Neck flexors were weak and also mild limb-girdle weakness without differential involvement. Sensory examination was unremarkable. Deep tendon reflexes were reduced and Babinski's reflexes were normal. Routine hematological and biochemical parameters, including serum lactate, creatine phosphokinase and thyroid profile, were within normal limits. Nerve conduction study, concentric needle electromyography and repetitive nerve stimulation test were unremarkable. Echocardiography showed asymmetrical septal hypertrophy without outflow obstruction. Magnetic resonance imaging (MRI) brain and ultrasonography of abdomen were normal. Muscle biopsy specimens were taken from left vastus lateralis. Microscopic examination showed minimal variation in fiber size without any endomysial and perimysial fibrosis. Occasional atrophied and bluish fibers were seen [Figure - 1]a. Histochemistry for ATPase at different pH levels showed normal fiber typing. Oxidative stains revealed subsarcolemmal accentuation of staining[Figure - 1]b and c. Numerous COX-negative fibers were seen. A significant number of ragged red fibers were present [Figure - 1]d. Ultrastructural examination revealed variation in the mitochondrial size with para-crystalline inclusions, at places showing characteristic Zipper-like pattern [Figure - 2]. Pathological diagnosis was mitochondrial myopathy.

Our patient had mild proximal weakness with progressive external ophthalmoplegia (PEO), cardiac septal hypertrophy and presence of ragged red fibers (RRF) or ragged blue fiber (SDH equivalents) in muscle biopsy. These features were suggestive of mitochondrial myopathy, which was further supported by ultrastructural findings. Unusual presentation in our case was respiratory involvement and recurrent relapses. Respiratory involvement is not a common feature in mitochondrial myopathy ^[1] but has been reported rarely in PEO and Leigh's disease. ^[2] To the best of our knowledge, recurrent quadriplegia due to muscle involvement, requiring prolonged ventilator support, has not been described in mitochondrial myopathy. The most appropriate clinical syndrome in the present patient would be " sporadic progressive external ophthalmoplegia with ragged red fibers with relapses (sporadic PEO with RRF with relapses) ." Present case adds relapsing quadriplegia to the already known wide clinical spectrum of mitochondrial myopathy.

Acknowledgment

We thank Dr. U. K. Misra, Professor & Head, Department of neurology, SGPGIMS, Lucknow for referring this patient to us.

References

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