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Phenotypical variability in glycogen storage disease type III with a recurrent AGL mutation c.750–753delAGAC

✍ Scribed by Minoru Okubo; Konstantinos Spengos; Panagiota Manta; Ekram Fateen


Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
173 KB
Volume
43
Category
Article
ISSN
0148-639X

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✦ Synopsis


Cranial nerve palsies (CNP) are a part of the clinical spectrum of chronic inflammatory demyelinating polyneuropathy (CIDP), but they are commonly associated with a more diffuse pattern. In a cohort of 146 CIDP patients, 2% presented isolated CNP and 17% had CNP associated with limb weakness or sensory involvement. 1 Antiganglioside antibodies can occasionally be detected in the sera of patients with CIDP. In a cohort of 20 patients with CIDP, only 1 had anti-GD1a antibodies. 2 These anti-GD1a antibodies have been identified in cases of acute motor axonal neuropathy (AMAN). 3 We report the case of a 71-year-old woman who presented with recurrent multiple CNP of unknown etiology but with anti-GD1a antibodies.

A 58-year-old woman was admitted for left facial weakness. The patient had no personal or familial neurological history and no history of headache. At 57 years of age she experienced right hemifacial pain for several months, which spontaneously regressed. At the age of 58, she developed left Bell's palsy associated with dysgeusia and left hemitongue anesthesia. She recovered fully with a 15-day course of 80 mg/day of prednisone. At age 61, she developed diplopia for a few days but did not seek medical advice. At age 64, she again developed diplopia with paresis of the left abducens nerve preceded by right hemicranial pain. She had no sequelae after treatment with corticosteroids.

At 71 years of age, she progressively developed diplopia and dizziness 2 weeks after influenza vaccination. We observed mild ataxia with moderate hypopallesthesia of the lower limbs, left ptosis, and limitation of abduction and vertical movements of the left eye. Tendon reflexes were all present, and there was no motor deficit or dysautonomia. Periorbital pain appeared the following day, suggesting a left orbital nerve injury.

Cerebrospinal fluid analysis showed no evidence of hypercellularity or elevated protein levels. Nerve conduction studies and electromyography were normal. Cere-


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