Progressive External Ophthalmoplegia With Hereditary Sensory Neuropathy: A Rare Association

Abstract

We describe a patient with chronic progressive external ophthalmoplegia and hereditary sensory neuropathy, an association not previously reported. A 7-year-old girl presented with drooping of both eyelids and inability to look up since age 4 years. There was no history of trauma or swelling of eyelids. From age years, the child had had recurrent ulcers on her fingertips, toes, and the dorsum of her hands and feet without pain. No family member had a similar problem. The child was of below-average intelligence. We noted auto-amputation of the great and small toes, mutilated right nail beds on the other toes, multiple scar marks on the dorsum of both feet, mild pes-cavus on the right, and mutilated nail beds and multiple scar marks on the dorsal surfaces of both hands (Fig. 1). We also found distal weakness of both upper and lower extremities, absent knee and ankle jerks bilaterally, and a decrease in all modalities sensation, greatest distally.FIG. 1: The dorsum of hands and feet show auto-amputation of fingertips and toes, mutilation, and multiple scar marks.Cranial nerve examination was normal. There were no hypopigmented anesthetic skin patches or thickened nerves. Visual acuity was finger counting OU. Visual fields were normal bilaterally. She had mild ptosis with good levator function bilaterally. Ocular movements were markedly reduced in upgaze and downgaze but full in horizontal gaze with nystagmus in extreme lateral gaze (Fig. 2). An alternating 20-prism-diopter exotropia was present without diplopia. Corneal sensation was mildly decreased. Pupils were normal in size and shape and reacted briskly to light. Ultrasound of both orbits was normal. The neostigmine test was negative. Complete blood profile, erythrocyte sedimentation rate, serum protein electrophoresis, thyroid profile, and brain magnetic resonance imaging were normal. A nerve conduction study showed absent sensory conduction in median, ulnar, and sural nerves and decreased motor conduction in median, ulnar, and common peroneal nerves. These findings favored a diagnosis of hereditary motor sensory neuropathy type 1. No other siblings or parents had this condition. However, the parents were consanguineous.FIG. 2: Mild bilateral ptosis, reduced upgaze and downgaze, and nearly normal horizontal gaze.In a 1980 study of 228 patients of hereditary sensory neuropathy, Harding et al (1) did not find a single case of external ophthalmoplegia. Pramod Kumar Sahu, MD, FRCS (Edin) V. A. Rao, MD Renuka Srinivasan, MS S. Thanikachalam, MD Department of Ophthalmology, Jawaharlal Institute of Postgraduate Medical Education & Research Center; Pondicherry, India; E-mail: [email protected]