Chronic progressive external ophthalmoplegia in a Saudi patient with a mutation in the POLG gene successfully managed with bilateral frontalis sling

Chronic progressive external ophthalmoplegia (CPEO) is a complex slowly progressive mitochondrial disorder characterized by extraocular muscle weakness with or without multisystem involvement. The mainstay of therapy in a patient with CPEO is supportive. However, in moderate cases, surgery might be indicated including surgeries for ptosis and strabismus. In this article, we report a Saudi patient with CPEO due to compound heterozygous variants in the DNA polymerase gamma (POLG) gene c.2246T>C p.(Phe749Ser) and c.1735C>T p.(Arg579Trp), which are classified as pathogenic. Proper diagnosis with genetic testing confirmation is important to guide the management and counsel the patient about the prognosis and the management options. The patient was successfully managed with bilateral frontalis sling and illustrates the importance of surgical intervention to improve vision and cosmetic appearance in patients with CPEO. We emphasize the importance of multidisciplinary care in the management of cases of mitochondriopathy, especially CPEO.

Idiopathic intracranial hypertension. Atypical presentation

To describe the clinical features of 5 patients with rare atypical presentation of idiopathic intracranial hypertension [IIH], and propose the possible mechanism of this atypical presentation. We carried out a retrospective study of 5 patients admitted at King Khalid National Guard Hospital, Jeddah, Kingdom of Saudi Arabia with IIH during the period from January 2001 to December 2005. All were females with their age ranges from 24 to 40 years. The clinical presentations, and the laboratory and imaging studies were analyzed. The opening pressures of the lumbar puncture tests were documented. All patients were presented with headache. One had typical pain of trigeminal neuralgia, and one with neck pain and radiculopathy. Facial diplegia was present in one patient, and 2 patients had bilateral 6th cranial neuropathy. Papilledema was present in all patients except in one patient. Imaging study was normal in all patients, and they had a very high opening pressure during lumbar puncture, except in one patient. All patients achieved full recovery with medical therapy in 6 to 12 weeks with no relapse during the mean follow up of 2 years. Atypical findings in IIH are rare and require a high index of suspicion for early diagnosis