Concurrence of Hyperhidrosis and Hypohidrosis in Ross Syndrome.

Ross Syndrome is a rare disorder characterized by tonic pupils, hyporeflexia, and abnormal segmental sweating. The pathophysiology of the disease remains unclear, with either hypohidrosis or hyperhidrosis reported in individual patients. We present the case of a man, aged 57 years, who presented with hyperhidrosis in his right extremities, anhidrosis in the left extremities, and changes in his pupils. The disease was not associated with markers of autoimmune disease, which supports recent research findings on the role of neurodegeneration. The patient's son was exhibiting similar symptoms, which implicates genetic inheritance in the process. A multidisciplinary approach is crucial for the diagnosis and ultimate management of patients with Ross Syndrome.

Ross syndrome with chronic cough and RF positivity: a case report.

Ross syndrome is a rare disorder of unknown etiology, characterized by the triad of segmental anhidrosis, tonic pupil, and areflexia/hyporeflexia. Ross syndrome is thought to be a limited and selective ganglioneuropathy. Its etiology has not been fully elucidated. Autonomic findings may also accompany. We wanted to present our 25-year-old patient who was diagnosed with Ross syndrome and presented with complaints of inability to sweat, heat intolerance, headache, diarrhea and chronic cough. Keyword: cough, tonic pupil, anhidrosis, compensatory.

Adie's Pupil: A Diagnostic Challenge for the Physician.

Adie's pupil, also called tonic pupil, is mainly seen in young women. Most patients have unilateral eye involvement. The pupil of the affected side is significantly larger than that on the healthy side. The direct and indirect light reflection from the pupil on the affected side disappears. The pupil on the affected side is sensitive to low concentrations of pilocarpine. The pathogeneses of Adie's pupil are complex, some of which are insidious and lack corresponding specific diseases. Through a literature review, we found that Adie's pupil is mainly associated with infectious diseases, most commonly syphilis, followed by immune diseases and paraneoplastic syndromes. The ophthalmological symptoms and pupil abnormalities can disappear after active treatment of the primary disease. Pilocarpine can be used to treat ophthalmologic symptoms, such as blurred vision, for which patients might visit an ophthalmologist or neurologist. It is essential for clinicians to improve their understanding of the disease to avoid misdiagnosis. Differential diagnosis between Adie's pupil, oculomotor nerve palsy, anticholinergic drug overdose, Argyll-Robertson pupil, and congenital mydriasis need to be identified by the physician. Here, the clinical manifestations, pathogenesis, relationship between Adie's pupil and diseases, and differential diagnosis of Adie's pupil are reviewed.

Photophobia as a Presenting Feature in Adie's Tonic Pupil.

A 34 years old female presented with complains of photophobia since 6-7 months. On examination, she had anisocoria of 4 mm in room light which increased in bright light. The left pupil was dilated and unresponsive to direct and indirect light stimuli. It did however, constrict slowly on near fixation followed by slow redilatation on distance fixation. A diagnosis of Adie's tonic pupil was made since left pupil constricted with instillation of dilute pilocarpine 0.1%. Her symptoms of photophobia and blurred vision immediately resolved. Photochromatic glasses and dilute pilocarpine 0.1% three times a day were prescribed. Prompt symptomatic relief of photophobia and blurred vision was observed.

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.

An approach to anisocoria.

PURPOSE OF REVIEW: Anisocoria is a finding seen on a daily basis in nearly every eye clinic. Although often benign, it can also represent the sole sign of a life-threatening disease making an up-to-date understanding of pathophysiology and diagnosis essential for anyone practicing medicine. RECENT FINDINGS: Many aspects of the traditional approach to anisocoria still hold true today, but advancements in imaging technology and changing trends in pharmacologic diagnosis and localization have led many to rethink that approach. In addition, the differential diagnosis for anisocoria continuously expands with identification and improved understanding of causal disease processes. SUMMARY: The present article discusses an approach to the classic anisocoria diagnostic algorithm modified by current knowledge from the most recent literature.

Congenital Tonic Pupils Associated With Congenital Central Hypoventilation Syndrome and Hirschsprung Disease.

Autonomic dysfunction can be associated with pupillary abnormalities. We describe a rare association of tonic pupils, congenital central hypoventilation syndrome, and Hirschsprung disease in a newborn with a mutation in the PHOX2B gene, a key regulator of neural crest cells. Hirschsprung disease is characterized by the congenital absence of neural crest-derived intrinsic ganglion cells. Tonic pupils may result from an abnormality of the ciliary ganglion, another structure of neural crest origin. The close association of these conditions in this child suggests a common abnormality in neural crest migration and differentiation.

A simple infrared-augmented digital photography technique for detection of pupillary abnormalities.

BACKGROUND: The purpose of the study was to describe a simple infrared photography technique to aid in the diagnosis and documentation of pupillary abnormalities. METHODS: An unmodified 12-megapixel "point and shoot" digital camera was used to obtain binocular still photos and videos under different light conditions with near-infrared illuminating frames. The near-infrared light of 850 nm allows the capture of clear pupil images in both dim and bright light conditions. It also allows easy visualization of the pupil despite pigmented irides by augmenting the contrast between the iris and the pupil. RESULTS: The photos and videos obtained illustrated a variety of pupillary abnormalities using the aforementioned technique. CONCLUSIONS: This infrared-augmented photography technique supplements medical education, and aids in the more rapid detection, diagnosis, and documentation of a wide spectrum of pupillary abnormalities. Its portability and ease of use with minimal training complements the education of trainees and facilitates the establishment of difficult diagnoses.

Tonic Pupil, a Paraneoplastic Neuro-Ophtalmological Disease Associated with Occult Breast Cancer.

Here, we present a case of tonic pupil associated with occult breast cancer as a paraneoplastic neuro-ophthalmology syndrome. A 45-year-old woman developed progressive photophobia and blurred vision due to unilateral Adie's tonic pupil. Magnetic resonance image of her brain and neurological examination (including deep tendon reflexes) were normal at first visit. Follow-up examinations performed by ophthalmologist every 6 month without any change in her condition. After 2 years, patient discovered a mass in her breast which identified to be malignant after diagnostic procedures. Despite surgical and medical treatment for cancer, no change in the ocular condition was happened.

Adie's tonic pupil after COVID-19: a case report and literature review.

Objective: Various neurological complications have been reported after COVID-19. The study aimed to document an unusual case of Adie's tonic pupil following COVID-19. Methods: The study was a case report. Results: A 28-year-old female had suffered a flu-like disease about 2 months before and the SARSCoV-2 polymerase chain reaction test at that time was positive. Two weeks after infection she noticed an asymmetry between the pupils. The only pathological finding on examination was anisocoria with a larger left pupil in ambient light. Light reflexes were observed in the right eye, while in the left eye, they were absent. Also, there was no near response in the left pupil. A 0.1% pilocarpine test results validated Adie's pupil diagnosis. After one year of follow-up, the anisocoria decreased but did not completely recover. Discussion: COVID-19 may cause damage to neural structures due to autoimmune ways by activating immune pathways or because of vascular complications that may affect the vasa nervorum. Adie's tonic pupil is often idiopathic, but it may develop following viral infection. Conclusions: Ocular complications that involve pupil abnormalities may manifest following COVID-19. In the cases of Adie's tonic pupil, infectious diseases, including COVID-19, should be questioned. Abbreviations: RT PCR = reverse transcription polymerase chain reaction.

An interesting case of a unilaterally dilated pupil.

Facial lacerations from minor trauma are a common presenting complaint to the emergency department. With the increasing availability of topical anesthetics, there is a decrease in the need for injectable local anesthetic and sedation services, facilitating the ease of facial laceration repairs for young children. One such topical anesthetic is a widely used pharmacy preparation of lidocaine 4%-epinephrine 0.1%-tetracaine 0.5% gel (LET). Although the use of LET has decreased the need for injectable lidocaine and sedation for facial lacerations, both of which can be unpleasant for children with potentially life-threatening adverse events, it may still lead to unexpected and untoward adverse events. We explore here a little-known adverse effect of LET in a child who presented to a pediatric emergency department with an eyelid laceration after minor head trauma.

Tonic pupil in child after chicken pox.

This is a case report of a 3-year-old boy who presented with unilateral anterior uveitis and tonic pupil following varicella-zoster virus (VZV) Infection. The patient had red and irritated eyes and photophobia. Ophthalmological findings included anterior uveitis and tonic pupil accompanied by reduced vision and accommodation. An MRI of the cerebrum was normal. To ease the symptoms the patient was prescribed photophobia glasses with correction of hyperopia. Tonic pupil due to VZV infection is a rare complication, but may have long-term consequences, why patients with eye-involving VZV infection need to be examined by an ophthalmologist.

[Cessation of anesthesia after newly occurring anisocoria without light reflexes]. / Abbruch der Anästhesie bei neu aufgetretener Anisokorie mit fehlenden Lichtreflexen.

Anisocoria during general anaesthesia is rare. The combination of anisocoria and absence of any reaction to light is highly suspicious of an intracerebral lesion. This article reports the case of a patient with known Adie's syndrome where anisocoria led to an unnecessary immediate interruption of anesthesia. A preoperative examination, including inspection of the pupils, frequent perioperative check ups and documentation of diagnostic findings, even if negative, has to be standard for every anesthesia.

[Tonic pupil, pupil Adie syndrome Adie Holmes: current reassessment of terminology -- a clinical case]. / Pupila tonica, pupila Adie sindromul Adie Holmes reevaluarea actuala a terminologiei - prezentare de caz clinic.

The benign syndrome of pupillotonia and absence of deep reflexes is not uncommon. It was clearly and accurately described by Adie (1932), although incompletely recognized many years, before. The pupillary abnormality was reported by ophthalmologists at the turn of the century (Saenger, 1902, Strasburger 1902), and the associated deep reflex change was described by Markus (1906), Roemheld (1921) and Parkes Weber (1923). Holmes (1932) was fully aware of the association of "partial iridoplegia" with diminished reflexes. Tonic pupils react poorly to light but constrict during viewing of a near stimulus. Adie's name is typically used in association with tonic pupils, but a review of Adie's articles reveals that he described the syndrome of tonic pupils and absent reflexes and not the pupillary abnormality per se. Therefore, it would be more appropriate to refer to a tonic pupil as simply a 'tonic pupil" and leave Adie's name for the syndrome. We report a typical case of tonic pupil.

Acute Oropharyngeal Palsy Following Bilateral Adie's Tonic Pupils Associated with Anti-GT1a and GQ1b IgG Antibodies.

A 36-year-old man was admitted to our hospital with complaints of dysphagia and photophobia. A neurological examination showed oropharyngeal palsy and bilateral mydriasis with loss of light reflexes in the absence of external ophthalmoplegia. Bilateral pupils were supersensitive to pilocarpine 0.1%, which was compatible with Adie's tonic pupils. Serum IgG reacted with GQ1b, GT1a, GalNAc-GD1a, and GD3. Intravenous high-dose immunoglobulin therapy improved his neurological symptoms within three weeks. To our knowledge, there is no medical literature describing acute oropharyngeal palsy with Adie's tonic pupils. We recommend evaluating antiganglioside antibodies to clarify the cause of oropharyngeal palsy and Adie's tonic pupils.

Clinical presentation and autonomic profile in Ross syndrome.

BACKGROUND: Ross syndrome is a rare disorder characterized by tonic pupils, hyporeflexia, and segmental anhidrosis. We sought to characterize the clinical presentation, associated autoimmune disorders, and autonomic profile in patients with Ross syndrome to further elucidate its pathophysiology. METHODS: We performed a retrospective chart review of all patients who underwent a thermoregulatory sweat test (TST) between 1998 and 2020 and had confirmation of the diagnosis of Ross syndrome by an autonomic disorders specialist. Standardized autonomic reflex testing was reviewed when available. RESULTS: Twenty-six patients with Ross syndrome were identified. The most common initial reported manifestation was an abnormal segmental sweating response in 16 patients (described as hyperhidrosis in 12 patients and anhidrosis in 4 patients) while a tonic pupil was the initial manifestation in 10 patients. Other commonly reported symptoms included fatigue, chronic cough, and increased urinary frequency. An associated autoimmune disorder was identified in one patient. Positive autoantibodies were found in a minority of patients often with unclear clinical significance. Distributions of anhidrosis encountered were segmental (n = 15), widespread (n = 7), and global (n = 4). Well-circumscribed small areas of preserved sweating within areas of anhidrosis were observed in the majority of patients (88.5%). Anhidrosis progressed slowly over time and sudomotor dysfunction was predominantly (post)ganglionic. Cardiovagal and adrenergic functions were preserved in most patients. CONCLUSIONS: The pattern of autonomic dysfunction in Ross syndrome is suggestive of a limited autonomic ganglioneuropathy. Sudomotor impairment is prominent and should be the focus of symptomatic management; however, clinicians should be aware of symptoms beyond the classic triad.

Ross syndrome: Unilateral hyperhidrosis, Adie's tonic pupils and diffuse areflexia.

Ross syndrome is a rare disorder first described in 1958 with partial autonomic dysfunction. It has three basic components including unilateral or bilateral segmental anhidrosis, Adie's tonic pupils and areflexia or hyporeflexia of deep tendon reflexes. The most disturbing symptom in the patients is segmental compensatory hyperhidrosis and often the hypohidrosis or anhidrosis is not even noticed. While the pathogenesis of Ross syndrome is unclear, degenerative changes or damage to the peripheral autonomic nerve system or dorsal root ganglia have been suggested as possible causes. About 50 cases have been reported, usually by neurologists and ophthalmologists, and less often by dermatologists. We present a 26-year-old patient who displayed the classic triad of this syndrome, emphasizing that the presenting complaint may be hyperhidrosis and that multidisciplinary evaluation in neurology and ophthalmology is essential.

[Pupillary disorders - diagnosis, diseases, consequences]. / Pupillenstörungen - Diagnostik, Erkrankungen, Konsequenz.

Examination of the pupil offers an objective evaluation of visual function as well as the vegetative pathways to the eye. Essential information is gathered within a short time. This makes pupillary inspection a valuable part of the routine ophthalmological, neurological and general medical examinations. Due to the proximity of pupillary pathways to various anatomic structures, pupillary dysfunction can be caused by a variety of disorders, some of which may be life threatening. The ophthalmologist plays a key role in detecting pupillary disorders and in directing further investigations. Therefore, one should have a good knowledge of the diagnostic significance of pupillary function and dysfunction.