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.

[Adie syndrome]. / Sindrom Éidi.

Disorders and abnormalities of pupil reactions comprise important part in the clinical practice of both ophthalmologists and neurologists. The present article presents a historical perspective on one of such pathologies - Adie syndrome, and discusses its etiology, pathogenesis and clinical symptomatology. The article also describes a clinical case of one patient with comorbidity.

Two Uncommon Paraneoplastic Neurological Syndromes in a Child With Hodgkin Lymphoma.

Paraneoplastic neurological syndromes (PNS) are rare, remote effects of cancer that are usually caused by an altered immune response to the tumor and not due to the tumor mass, metastasis, infection, ischemia, or metabolic derangements. PNSs can affect any area of the central, the peripheral, and the autonomic nervous systems. These are rare in lymphomas compared with solid tumors attributed to their presentation even in late stages and the absence of onconeural antibodies. We present a child with stage IIB Hodgkin lymphoma who presented with dual PNS, achalasia cardia, and Holmes Adie pupil occurring synchronously with the cancer.

Reversal of pupillary atonia after removal of an encircling band.

: We describe a patient who developed an atonic pupil after placement of an encircling band during retinal detachment surgery. When the band was removed 18 months later, the pupil signs showed partial recovery demonstrating a degree of reversibility of the parasympathetic paresis. We speculate that in this case mechanical deformation of the sclera by the encircling band had produced a conduction block of the short posterior ciliary nerve fibers as they pass forward in the underlying suprachoroidal space.

William John Adie: the man behind the syndrome.

William John Adie was an Australian neurologist in the early 20th century responsible for extensively describing the tonically dilated pupil associated with absent deep tendon reflexes - both features of a syndrome that now bears his name. In addition to other neurological syndromes, he was also significant in delineating narcolepsy through his clinical essays and case series. His ophthalmic and neurologic contributions have served the test of time and played an important role in the modern understanding of Adie syndrome and narcolepsy. This report reviews Adie's medical contributions, extensive descriptions of Adie syndrome, and provides a brief biographical account of his life.

[Dysautonomic syndrome of the face with Harlequin sign and syndrome: Three new cases and a review of the literature]. / Syndromes dysautonomiques du visage avec signe et syndrome d'Harlequin : étude de trois cas et revue de la littérature.

INTRODUCTION: Harlequin phenomenon is characterized by a strictly unilateral erythrosis of the face with flushing and hyperhydrosis, and controlaterally a pale anhydrotic aspect. This syndrome can occur alone or associated to other dysautonomic phenomena such as Horner syndrome, Adie syndrome or Ross syndrome. PATIENTS AND METHODS: We report three cases: two patients presented a Harlequin sign, associated with Horner syndrome for one and Ross syndrome for the second. The etiologic investigation was normal, allowing recognizing the idiopathic nature of the disorder. For the third patient, Harlequin syndrome was observed in a neoplastic context due to breast cancer, metastatic dissemination, and bone metastases involving the right side of the T2 body. DISCUSSION: We reviewed the literature: 108 cases have been described. This syndrome occurred alone in 48 patients and was associated with other dysautonomic syndromes such as Horner syndrome in 38 patients, Holmes Adie syndrome in six, and Ross syndrome in six; both Ross and Holmes Adie syndrome were associated five cases and associations were not reported in five patients. The pathophysiological mechanisms of this autonomic cranial neuropathy, the possible etiologies, and therapeutic management were discussed. CONCLUSION: Harlequin phenomenon with flushing and unilateral hyperhydrosis is rare, occurring alone or in combination with other autonomic syndromes of the face. Idiopathic in two-thirds of cases, Harlequin phenomenon does not require specific treatment; sympathectomy may be discussed in the severe cases with a significant social impact.

[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.

Progression of cardiovascular autonomic dysfunction in Holmes-Adie syndrome.

The Holmes-Adie Syndrome (HAS) is a disorder of unknown aetiology comprising unilateral or bilateral tonic pupils with near light dissociation and tendon areflexia. Although considered to be benign, troublesome symptoms may result from autonomic disturbances, affecting vasomotor, sudomotor and respiratory function. It is unclear if the autonomic manifestations of the disease remain stable or progress, as longitudinal studies with detailed autonomic assessments have not been described. The authors report four HAS patients studied at intervals over 16, 8, 4 and 2 years with cardiovascular autonomic tests (head-up tilt, isometric exercise, mental arithmetic, cutaneous cold, deep breathing, Valsalva manoeuvre and standing). In each, there was progression of cardiovascular autonomic deficits with time, accompanied by symptomatic worsening. These observations in HAS, for the first time, indicate progression of cardiovascular autonomic dysfunction of clinical significance. This has a number of implications, including those relating to aetiology and prognosis. The authors recommend regular clinical and laboratory follow-up, especially of cardiovascular autonomic function, in patients with HAS.

Holmes-Adie syndrome associated with high altitude pulmonary edema and low chemo-responsiveness to hypoxia.

A 63-year-old patient with Holmes-Adie syndrome presented an altered peripheral chemoreflex and suffered from high altitude pulmonary edema, suggesting an alteration of sensitive afferent fibers from the peripheral chemoreceptors. Chemo-responsiveness to hypoxia should be explored before any exposure to moderate altitude in Holmes-Adie patients.

The Holmes-Adie Syndrome in the Mona Lisa of Leonardo da Vinci (1452-1519).

The literature describes that the renowned artwork of the genius of human anatomy, Leonardo da Vinci (1452-1519), known as Mona Lisa (1503-1506), is among one of the most enigmatic artworks in the History of Art. In this context, many details inserted on the composition of this artwork, including those related to Mona Lisa physical aspects' (anatomy) are controversial. The few known descriptions that provide some thorough indications about the woman who served as the model for this work, were written by Giorgio Vasari (1511-1574) in 1550. According to Vasari, the Mona Lisa is a portrait of Lisa del Giocondo (1479-1542) and although he has given a detailed description concerning Lisa's physical characteristics, some are not fully understood so far. In this context, the unequal size of her pupils stands out, a clinical condition known as anisocoria. On this detail, this Letter presents unprecedented pieces of evidence that the anisocoria represented in Mona Lisa may be an indicator that Lisa del Giocondo had a neurological disorder known as Holmes-Adie Syndrome, which could have been caused by an endocrine disruption of the thyroid hormones. Thus, the pieces of information presented on this Letter are essential for further studies once, through them, it is possible to know more about the physical characteristics and also about the probable health condition of the renowned character of one of the most famous artworks of history.

Dilute pilocarpine test for diagnosis of Adie's tonic pupil.

We have compared the diagnostic ability of different concentrations of 0.125% and 0.0625% dilute pilocarpine for detecting denervation supersensitivity in unilateral Adie's tonic pupil. This retrospective, observational, case-control study involved 117 subjects, consisting of 56 patients with unilateral Adie's tonic pupil and 61 controls with other causes of unilateral dilated pupils. Subjects underwent the dilute pilocarpine test with one of the two concentrations, 0.125% or 0.0625%. Pupillary light reflex was recorded with a dynamic pupillometer at baseline and at 30-40 min after instilling one of the two concentrations of dilute pilocarpine. Diagnostic accuracy of two different concentrations of the dilute pilocarpine test, 0.125% group versus 0.0625% group, were compared by area under the receiver operating characteristic curve (AUC). Diagnostic ability of the dilute pilocarpine test for detecting denervation supersensitivity in unilateral Adie's tonic pupil was significantly better in the 0.0625% group than in the 0.125% group (AUC = 0.954 vs. 0.840, respectively, P = 0.047). In the 0.0625% group, the change in maximal pupil diameter of ≥ 0.5 mm after topical pilocarpine instillation showed 100% sensitivity and 82.8% specificity for detecting Adie's tonic pupil. This study confirmed that pupillary constriction with 0.0625% pilocarpine is better than 0.125% pilocarpine for detecting denervation supersensitivity in Adie's tonic pupil. Digital pupillometry is a reliable method for assessing denervation supersensitivity in Adie's tonic pupil.

Adie-Holmes syndrome associated with COVID-19 infection: A case report.

With increasing experience, it has been suggested that the SARS-CoV-2 virus has a neurotropic effect. Here, we present a case of a tonic pupil who developed after COVID-19 infection. A 36-year-old woman presented with progressive photophobia and blurred vision. On neurological examination, loss of deep tendon reflexes accompanying a tonic pupil was detected and brain MR imaging was normal. With this case, we aimed to describe a rare pattern of neurological involvement caused by the possible SARS-CoV-2 virus.

Bilateral Holmes-Adie syndrome as an early manifestation of the HIV neuropathy.

A 38-year-old HIV-1 infected woman affected with bilateral tonic pupils. Ophthalmologic examination confirmed Holmes-Adie syndrome (HAS), and peripheral distal polyneuropathy, orthostatic hypotension and leg hyperhidrosis were detected on further workup. The HAS can be either idiopathic or associated with neuropathy of various etiology (autoimmune, paraneoplastic and infectious). In our patient, the pupillotonia was the first and early symptom of hitherto unrecognized HIV neuropathy. HAS has been previously observed in association with syphilis, Lyme borreliosis, herpes simplex and parvovirus B19 infection. Our case is the first report of HAS in a case of HIV infection.

PUPILLOTONIA AND ADIE SYNDROME.

The aim of the work is to approach the examination of the pupil with a focus on anisocoria, its characteristics and approach to the diagnosis of pupillotonia and Adie's syndrome and its clinical evaluation. Pupil function is important not only in neurophthalmological examination but also in general ophthalmological examination. First of all, we need to know how the reflex arc works in order to be able to exclude or confirm whether the parasympathetic or sympathetic is affected. It is also necessary to know the exact characteristics of the pupil, such as size, shape, placement, function and reaction to light and at close range. Only on this basis can we distinguish pathological features. We do not often encounter this diagnosis, but it is necessary to keep it in mind, especially in the field of neurophthalmology but also in general ophthalmology. We also present three cases of pupilotonia and Adie's syndrome, which we diagnosed at the Department of Ophthalmology, Faculty of Medicine, Comenius University, after the patient himself came by emergency admission or was sent directly to ophthalmology clinic. In the discussion, we present various other diagnoses, where the reflex arc may not be affected, but the pathological pupil is caused by intraocular tumors, general systemic diseases and, last but not least, local therapy or alkaloids.

Adie's tonic pupil presenting with unilateral photophobia successfully treated with dilute pilocarpine.

A 40-year-old healthy man presented with a 4-month history of photophobia, blurred vision and a right dilated pupil. Examination revealed a right pupil that was not reactive to light but constricted strongly to a near target and slowly redilated when he looked back in the distance. Pharmacological testing with dilute pilocarpine 0.1% resulted in constriction of the right pupil but no change in the left pupil. This also resulted in resolution of his photophobia and blurry vision. Neurological examination was otherwise normal, and a diagnosis of Adie's tonic pupil was made. The main differential diagnosis to consider for a large pupil is a third nerve palsy, pharmacological mydriasis, tonic pupil and local iris processes, such as iris sphincter tears from trauma. Knowledge of the key features of these conditions can avoid wasted resources from unnecessary testing. Dilute pilocarpine 0.1% three times a day can be considered as a pharmacological therapy for symptomatic relief.