A rapidly progressive adolescent‐onset oculopharyngeal somatic syndrome with rimmed vacuoles in two siblings

Abstract

We describe 2 Greek siblings who developed a rapidly progressive oculopharyngeal somatic syndrome, at the ages of 11 and 14 years, with muscle biopsies showing rimmed vacuoles and, in 1 case, cytoplasmic and intranuclear tubulofilamentous inclusions 25 nm in diameter. Although a similar pattern of muscle involvement with rimmed vacuoles is described in autosomal dominant oculopharyngeal muscular dystrophy, the age of onset, the rapid progression of the symptoms, and the nature of the tubulofilaments distinguish this as a separate entity.

A randomized trial of 3,4-diaminopyridine in Lambert-Eaton myasthenic syndrome

“…[25][26] Moreover, in several patients, an association of OPMD with chronic axonal neuropathy has been reported. 21,[27][28] In our series, two patients with an expanded GCG allele showed an associated neurogenic disease: Patient 8 developed classic ALS with upper and lower motor neuron signs 10 years after the onset of ptosis, and Patient 16 had a chronic axonal neuropathy associated with early onset ptosis, marked opthalmoparesis, and severe weakness of axial and limb muscles. Although a simple coincidental association cannot be excluded, this observation raises the intriguing possibility that an underlying neuronal pathology in OPMD could originate from the same mechanism of "nuclear toxicity", 29 provoked by accumulation of mutated PABP2 protein postulated to explain muscle fiber damage.…”

“…Natural log transformations of the hormone levels were applied to approximate better a normal distribution. 27 Correlations between the hormone levels are provided on the Neurology Web site. Hierarchical regression models were developed with each neurospychological test as separate dependent variables, controlling for the potentially confounding variables before testing the statistical effects of each hormone level.…”

An unusual familial oculopharyngeal syndrome

“…Only five adult patients with M. hominis brain abscesses have been previously described in the literature [2][3][4][5][6]. We describe one further patient, the characteristics of whom raise an idea that it may be possible to suspect this disease on a clinical basis.…”

“…The young age of onset and absence of intranuclear inclu-sions and GCG repeat sequence is not in keeping with OPMD. Oculopharyngeal syndromes in young patients tend to be rapidly progressive [6]. Mirabella et al [7] described five older patients with an oculopharyngeal syndrome without the GCG repeat.…”