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Three patients with acute multiple cranial neuropathy following benign infectious disease are reported. Complete or partial ophthalmoplegia, as well as facial and bulbar dysfunction, were noted in all. Cranial nerve involvement was bilateral. Other neurological deficits included sensory loss in two patients and transiently reduced tendon reflexes in the left arm in one. One patient had positive serum anti-GQ1b immunoglobulin G antibody during the acute phase of the illness. The cerebrospinal fluid had a normal cell count in all three patients, with raised protein concentrations in two. Electrophysiological evaluation showed peripheral nerve dysfunction in two patients. All three patients improved either spontaneously or coincident with immunotherapy. Our patients had many clinical features resembling those of typical Guillain-Barre syndrome (GBS), and hence their disorder may represent a regional variant, that is, a cranial form, of GBS. This form of GBS accounted for 5% of the GBS patient population in our series.

We report an Austrian family with proximal muscle weakness and wasting predominantly of the shoulder girdle musculature, normal or slightly reduced distal muscle power, mild foot deformity, absent or reduced tendon reflexes in the lower limbs, and normal or slightly diminished sensation. Electrophysiologically, motor nerve conduction velocities were slowed to less than 33 m/s, distal latencies were prolonged, and compound motor action potentials were low. Sensory nerve conduction velocities were extremely reduced or no sensory potentials were recordable. Genetic testing in three affected individuals revealed a duplication of the chromosomal region 17p11.2. In addition, genetic testing for facioscapulohumeral muscular dystrophy (FSHD) revealed a 33 kb EcoRI fragment on chromosome 4q35 in one affected individual and in the clinically normal parent, whereas in a second affected person normal DNA-sizes were observed. These clinical findings define a new phenotypic variant associated with the Charcot-Marie-Tooth 1A duplication. This may be due to a mutation in another gene contained in the 1.5 Mb duplication although mutations in the peripheral myelin protein 22 gene have been excluded. Alternatively, the genetic background of other genes in the family may modify the phenotypic expression, as found in other inherited diseases. The unusual phenotype cannot be explained by the concomitant presence of FSHD despite some evidence for coexistance in one individual.