Is Ross Syndrome an Autoimmune Entity? A Case Series of 11 Patients.

BACKGROUND: Ross syndrome is diagnosed by the presence of segmental anhidrosis, areflexia, and tonic pupils. Fewer than 60 cases have been described in literature so far. There have been reports of presence of antibodies in such patients, suggesting an autoimmune pathogenesis. METHODS: We describe the clinical profile in this case series of 11 patients with Ross syndrome and discuss the current status of autoimmunity in its pathogenesis and the management. RESULTS: Of the 11 patients with Ross syndrome there was an almost equal sex distribution (male:female ratio was 1.17:1) and the mean age of onset of symptoms was 26 years. Patients took an average of 6 years to present to a tertiary center. Sixty-three percent of the patients presented with complaints of excessive sweating, whereas only 27% had complaints of decreased sweating over a particular area of the body. Only 45% of the patients had the complete triad of Ross syndrome, which included segmental anhidrosis, tonic pupil, and absent reflexes. Eighty-nine percent of the patients had documented absent sympathetic skin response on electromyography. The various markers of autoimmunity were negative in all patients who were investigated for the same in this series. Ninety percent of the patients were managed conservatively. CONCLUSIONS: These findings suggest that, in Ross syndrome, generalized injury to ganglion cells or their projections are not purely autoimmune-mediated.

[A Case of Anti-GQ1b Antibody Syndrome Associated with Pure Bilateral Adie's Pupils].

A 37 year-old Japanese male felt photophobia of both eyes one week following the onset of the common cold. His neurological examination revealed bilateral Adie's tonic pupils, no extraocular movement disorder, normal deep tendon reflexes, and no cerebellar signs. Based on markedly increased blood levels of anti-GQ1b IgG and anti-GT1a IgG antibodies, we diagnosed him as anti-GQ1b antibody syndrome. Bilateral Adie's tonic pupils were improved by IVIg drip infusion and methylprednisolone pulse therapy. This case suggests that we need to investigate anti ganglioside antibody when a patient presents with bilateral Adie's tonic pupils.

Adie's pupils in paraneoplastic ganglionopathy with ANNA-1.

Autonomic disturbances are common in patients with paraneoplastic syndromes associated with type-1 antineuronal nuclear autoantibodies (ANNA-1), although pupillary disturbances are infrequent. The authors describe a patient with ANNA-1 associated paraneoplastic sensory neuronopathy and bilateral Adie's pupils.

Bilateral tonic pupils with evidence of anti-hu antibodies as a paraneoplastic manifestation of small cell lung cancer.

INTRODUCTION: Ophthalmological manifestations of systemic malignancies can be either direct, metastatic or paraneoplastic. The latter are remote effects of carcinoma, often caused by autoantibodies. Ophthalmological manifestations include cancer-associated retinopathy, melanoma-associated retinopathy, opsoclonus-myoclonus syndrome or motility disorders due to effects on the neurological system. A unilateral tonic pupil is usually a benign finding but has also been described in the context of paraneoplastic syndromes, in some cases associated with anti-Hu antibodies. CASE REPORTS: The authors describe 2 patients with bilateral symptomatic tonic pupils due to a paraneoplastic syndrome. Both patients had been treated for small cell lung cancer and had evidence of anti-Hu antibodies (autoantibodies against nuclei of neural cells) in serum and cerebrospinal fluid. Both had typical pupillary findings and hypersensitivity to diluted pilocarpine. The first patient also had sensory neuronopathy, the second affection of several cranial nerves. DISCUSSION: To the best of our knowledge, to date no case of bilateral tonic pupils has been published due to a paraneoplastic disorder with evidence of autoantibodies. This is surprising, as it is probable that autoantibodies in paraneoplastic disorders affect both ciliary ganglions in a similar way.

[Hemiatrophia faciei progressiva and tonic pupil]. / Hemiatrophia faciei progressiva und Pupillotonie.

BACKGROUND: A variety of infectious and autoimmune diseases are described in association with pupillotonia. To our knowledge there is only one report on pupillotonia associated with hemiatrophia faciei. We describe another patient with this rare association. The aim is to investigate possible associations between both diseases. PATIENT: A twenty five-year-old male patient with hemiatrophia faciei, epilepsy and pupillotonia of the right eye since his twelfth birthday was presented for the first time at the age of fourteen at our institution. The patient underwent a complete neurological and paediatric as well as otolaryngological investigation; there was also an investigation by the internist. The patient also underwent a complete serological investigation for infectious and autoimmune disorders as well as an investigation of the local and systemic vascular reactivity by the "Ocular cold pressor test". The follow-up time is 11 years. RESULTS: The clinical picture of our patient was an association of hemiatrophia faciei, epilepsy and pupillotonia. There was no evidence of a local hyperactivity of the sympathetic nervous system. The serological investigation showed an elevated value of antinuclear antibodies. CONCLUSIONS: We assume that in our case the pupillotonia as well as the hemiatrophia faciei and the epilepsy is caused by a common autoimmune factor. All other aetiologies for these three diseases were excluded. Furthermore, the occurrence of pupillotonia, hemiatrophia faciei and epilepsy was simultaneous.

Tonic pupils and human parvovirus (B19) infection.

We document the case of a young woman with bilateral internal ophthalmoplegia and subsequently tonic (Adie's) pupils, corneal epitheliopathy, and uveitis due to human parvovirus B19 infection. To our knowledge, this is the first reported case of ocular complications of this virus.