Orbital involvement as the initial manifestation of sarcoidosis: magnetic resonance imaging findings.

A 74-year-old man had diplopia, painful right ophthalmoplegia, proptosis, conjunctival injection, and facial skin lesions. Magnetic resonance imaging (MRI) revealed infiltration of the right intraorbital adipose tissue. Lesions were mixed low- and high-signal on T2-weighted images and enhanced on fat-suppressed T1-weighted postcontrast images. A skin biopsy revealed numerous noncaseating granulomas consistent with sarcoidosis. Treatment with corticosteroids and chlorambucil led to a full clinical recovery. Sarcoidosis should be considered in the evaluation of orbital pseudotumor in elderly patients, even if no systemic manifestations of sarcoidosis are present.

Thrombocytosis in temporal arteritis rising platelet counts: a red flag for giant cell arteritis.

OBJECTIVES: To determine whether early recognition and detection of thrombocytosis in patients with giant cell arteritis can help secure an earlier diagnosis, and whether it can help differentiate cases of arteritic optic neuropathy from other forms of optic neuropathy. METHODS: Medical and ophthalmologic records from 1993 to 1998 of the authors' patients with biopsy-proven temporal arteritis versus the authors' patients with nonarteritic anterior ischemic optic neuropathy and idiopathic demyelinating optic neuritis were prospectively collected. Past and present blood analyses were collected, and platelet counts were compared between patients with giant cell arteritis and control populations. This was done to determine whether thrombocytosis could help with the diagnosis and differentiation of these different disease states. RESULTS: There was a significant difference in the frequency of thrombocytosis in patients with giant cell arteritis (13 out of 19 patients), with or without arteritic ischemic optic neuropathy, as compared with those with nonarteritic anterior ischemic optic neuropathy (zero out of 30 patients), idiopathic optic neuritis (zero out of 26 patients), and healthy age-matched controls (one out of 22 control subjects). This difference was especially helpful in patients whose sedimentation rates were within the normal range (adjusting for age). Also noted was the finding that the rise in the platelet counts was not acute, but rather it was a slow gradual increase for approximately 12 months before the onset of significant systemic or visual symptoms. CONCLUSION: Thrombocytosis should be considered an important marker in patients being referred for evaluation of ischemic optic neuropathy, diplopia, amaurosis fugax, headache, or even generalized malaise. Westegren sedimentation rates <50 mm/hr are often erroneously viewed as nondiagnostic or equivocal in the elderly and just followed. An over-the-phone review of patients' sedimentation rates, complete blood counts, and platelet counts can lead to expedited evaluation and treatment of patients who may be at high risk of visual loss from temporal arteritis. Thrombocytosis should lower a physician's threshold to acutely treat patients for possible arteritic ischemic optic neuropathy until the disease is definitely ruled out.

Leber's hereditary optic neuropathy mitochondrial DNA mutations in familial multiple sclerosis.

Leber's hereditary optic neuropathy (LHON) can be difficult to distinguish from optic neuritis due to multiple sclerosis (MS). For several decades an association of LHON and MS has been suspected, and within the past 7 years the LHON nucleotide (nt)-3460 and nt-11778 mtDNA mutations have been identified in several patients with MS-like phenotypes. To further study this association, we tested 42 index patients with clinically definite, familial MS for the LHON mtDNA mutations at nt-3460, nt-11778, and nt-14484. No patients had a pathogenic LHON mtDNA mutation; however, two MS patients with unilateral optic neuritis harbored the nt-15257 mtDNA polymorphism that was reported originally as a pathogenic LHON mutation. Several investigators have shown evidence that the nt-15257 mtDNA mutation is not primarily pathogenic. Therefore, we conclude that pathogenic LHON mtDNA mutations are absent or rare in unselected patients with familial, clinically definite MS (95% confidence intervals for each of the negative mutations 0-7.0%).

The treatment of periocular and facial pain with topical capsaicin.

This article describes the effects of topically applied capsaicin (a nociceptive substance-P suppressor) in patients with neuropathic periocular or facial pain. Peripheral neuropathic pain is a major cause of periocular or facial discomfort and usually follows injury to a subcutaneous peripheral nerve. Though the damage is local, the pain tends to radiate. We studied three patients who complained of a 2- to 30-year history of fluctuating pain in the periocular area. All three had an area of point tenderness that responded to the topical application of capsaicin cream.

Clinical course of a cohort in the Cuban epidemic optic and peripheral neuropathy.

Nearly 51,000 Cubans were afflicted during an outbreak of an optic neuropathy (ON) and peripheral neuropathy (PN) between 1991 and 1993. We re-examined 14 of 20 affected individuals 16 months after an initial evaluation. The optic features were painless symmetric vision loss with poor visual acuity, color vision loss, central or cecocentral scotoma, optic disc pallor, and nerve fiber layer drop-out. The neurologic symptoms included stocking-glove sensory changes, hearing loss, leg cramps, sensory ataxia, hyperactive or absent reflexes, and complaints of memory loss. Two of 11 ON probands tested harbored Leber's hereditary optic neuropathy (LHON)-associated mitochondrial DNA mutations. All patients had received multivitamin therapy. We performed comparisons using the paired two-tailed t test. On re-examination, 12 of 14 patients demonstrated improvement. One patient remained unchanged. One woman with the nt-3460 mtDNA mutation showed a decline in vision. In patients not harboring mtDNA mutations, overall visual acuity, color vision, and peripheral neuropathy manifestations improved significantly (p < 0.001 for each manifestation). Most of the patients with Cuban ON and PN improved on multivitamin therapy. The significance of the mtDNA mutations is unclear. In the 2 LHON patients, manifestation of the disease may have been precipitated by nutritional deficiency. Patients with poor recovery or further deterioration should be evaluated for other factors, including poor vitamin therapy compliance and alternative diagnoses.

Mitochondrial DNA mutations in an outbreak of optic neuropathy in Cuba.

Since October 1991, nearly 51,000 Cubans have been afflicted in an outbreak of optic and peripheral neuropathies. To begin an investigation of the possible role of mitochondrial DNA (mtDNA) mutations in the outbreak, we studied mtDNA from 14 affected and two unaffected Cubans for the 12 mutations associated with Leber's hereditary optic neuropathy. Eleven probands (12 patients) had optic neuropathy and two had peripheral neuropathy only. We also studied two unaffected relatives of one proband. We identified two mtDNA mutations, at nucleotides 11778 and 3460, in two of the 11 probands with optic neuropathy. Although this data set is too small to reach statistically valid conclusions, it does suggest that mtDNA mutations might be contributing to the outbreak of optic neuropathy in Cuba.