Esophageal Contractions in Patients with Chronic Progressive External Ophthalmoplegia

Background Chronic progressive external ophthalmoplegia is a mitochondrial myopathy that causes muscular or multisystem symptoms and has dysphagia as one manifestation. Aim To evaluate esophageal contractions in patients with chronic progressive external ophthalmoplegia. Methods We studied 14 patients with chronic progressive external ophthalmoplegia and 16 asymptomatic volunteers. The diagnosis of the disease was established by the clinical picture and by mitochondrial DNA analysis in skeletal muscle. We used the manometric method with a perfusion catheter that recorded the esophageal contractions at 2, 7, 12, 17, and 22 cm from the lower esophageal sphincter (LES). All subjects performed in the supine position 20 swallows of a 5-ml bolus of water at room temperature, ten every 30 s and ten every 10 s. Results The amplitude, duration, and area under the curve of contractions at 17 and 22 cm from the LES were lower in patients than in volunteers for swallows performed at 10-s and 30-s intervals (P < 0.01). There was no difference in contractions at 7 and 2 cm, except for the contractions at 2 cm after swallows performed at 30-s intervals. The interval between the onset of contractions between 7 and 2 cm and between 22 and 2 cm was lower in patients than in volunteers, with swallows performed every 10 s and every 30 s. Conclusions There is impairment of esophageal contractions in patients with chronic progressive external ophthalmoplegia, mainly in the proximal esophageal body.

Multi-system neurological disease is common in patients with OPA1 mutations

Additional neurological features have recently been described in seven families transmitting pathogenic mutations in OPA1, the most common cause of autosomal dominant optic atrophy. However, the frequency of these syndromal `dominant optic atrophy plus` variants and the extent of neurological involvement have not been established. In this large multi-centre study of 104 patients from 45 independent families, including 60 new cases, we show that extra-ocular neurological complications are common in OPA1 disease, and affect up to 20% of all mutational carriers. Bilateral sensorineural deafness beginning in late childhood and early adulthood was a prominent manifestation, followed by a combination of ataxia, myopathy, peripheral neuropathy and progressive external ophthalmoplegia from the third decade of life onwards. We also identified novel clinical presentations with spastic paraparesis mimicking hereditary spastic paraplegia, and a multiple sclerosis-like illness. In contrast to initial reports, multi-system neurological disease was associated with all mutational subtypes, although there was an increased risk with missense mutations [odds ratio = 3.06, 95% confidence interval = 1.44-6.49; P = 0.0027], and mutations located within the guanosine triphosphate-ase region (odds ratio = 2.29, 95% confidence interval = 1.08-4.82; P = 0.0271). Histochemical and molecular characterization of skeletal muscle biopsies revealed the presence of cytochrome c oxidase-deficient fibres and multiple mitochondrial DNA deletions in the majority of patients harbouring OPA1 mutations, even in those with isolated optic nerve involvement. However, the cytochrome c oxidase-deficient load was over four times higher in the dominant optic atrophy + group compared to the pure optic neuropathy group, implicating a causal role for these secondary mitochondrial DNA defects in disease pathophysiology. Individuals with dominant optic atrophy plus phenotypes also had significantly worse visual outcomes, and careful surveillance is therefore mandatory to optimize the detection and management of neurological disability in a group of patients who already have significant visual impairment.

Cavernous sinus thrombosis in a patient with facial myiasis

Cavernous sinus thrombosis is a severe encephalic complication of the cervicofacial infections that can lead to death if not treated in adequate time. Among the several etiologies related to the development of this infection, myiasis has not been reported, enforcing the importance of the report of a case of thrombosis of the cavernous sinus developed from a facial myiasis. (Quintessence Int 2010;41:e72-e74)