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Arquivos de Neuro-psiquiatria Jun 2008
Topics: Adie Syndrome; Autonomic Nervous System; Female; Headache; Humans; Parasympathetic Nervous System; Reflex; Trigeminal Nerve; Young Adult
PubMed: 18641888
DOI: 10.1590/s0004-282x2008000300031 -
Annals of Saudi Medicine 2008
Topics: Adie Syndrome; Adult; Diagnosis, Differential; Electrocardiography; Humans; Hyperhidrosis; Hypohidrosis; Male; Syndrome; Tomography, X-Ray Computed; Tonic Pupil
PubMed: 18299650
DOI: 10.5144/0256-4947.2008.53 -
The British Journal of Ophthalmology Dec 2007To compare the pupil signs in patients with bilateral pupillotonia caused by Holmes-Adie syndrome or generalised peripheral neuropathy.
AIM
To compare the pupil signs in patients with bilateral pupillotonia caused by Holmes-Adie syndrome or generalised peripheral neuropathy.
METHODS
Infrared video pupillographic techniques were used to measure a number of pupil variables in patients with Holmes-Adie syndrome, generalised neuropathy (various aetiologies) and healthy age-matched control subjects.
RESULTS
Regardless of aetiology, the patients generally had pupil signs typical of pupillotonia (small dark diameters, large light diameters, tonic near responses, attenuated light responses with light-near dissociation, and sector palsy). However, significant differences were found in the prevalence and magnitude of several pupil variables in the two patient groups. In particular, sector palsy and anisocoria exceeding 1 mm (in the light) were seen much more commonly in Holmes-Adie patients than patients with generalised neuropathy. The presence of both these pupil signs can be used to distinguish between these diagnoses with a sensitivity of 58% and a specificity of 90%.
CONCLUSIONS
The tonic pupils of patients with Holmes-Adie syndrome are significantly different to those found in patients with generalised neuropathy; recognition of these differences may allow distinction between these diagnoses.
Topics: Adie Syndrome; Adult; Aged; Anisocoria; Diagnosis, Differential; Female; Humans; Light; Male; Middle Aged; Nervous System Diseases; Prevalence; Pupil; Pupil Disorders; Sensitivity and Specificity; Severity of Illness Index; Tonic Pupil
PubMed: 17584996
DOI: 10.1136/bjo.2007.118968 -
The New England Journal of Medicine Aug 2006
Topics: Adie Syndrome; Adult; Autonomic Nervous System Diseases; Female; Humans; Hypohidrosis; Syndrome; Tonic Pupil
PubMed: 16899770
DOI: 10.1056/NEJMicm040986 -
World Journal of Gastroenterology Mar 2006A 35-year-old female patient presented with the following symptoms of Holmes-Adie syndrome: photophobia,enlargement of the left pupil unresponsive to light, Achilles...
A 35-year-old female patient presented with the following symptoms of Holmes-Adie syndrome: photophobia,enlargement of the left pupil unresponsive to light, Achilles areflexia. The pilocarpine test was positive. No tumor or other neurological abnormality was found. She had a 19-year history of autoimmune hepatitis. Flares up were observed following each 3 deliveries. At age of 31 she presented with diarrhea and weight loss. Abdominal tumor was detected by ultrasound. The surgically removed tumor was histologically a benign mesenteric multicystic lymphangioma.Simultaneously, celiac disease was diagnosed.Gluten-free diet resulted in a significant improvement of celiac disease,but not of autoimmune hepatitis. Autonomic neuropathy was proven by standard cardiovascular tests. The patient was a homozygous carrier for HLA DQ2 antigen characteristic for celiac disease and heterozygous for HLA DR3 B8 frequent in autoimmune liver diseases. Our novel observation on association of Holmes-Adie syndrome with autoimmune hepatitis and celiac disease is suggestive for a common immunological background for all three entities present in a patient with mesenteric multicystic lymphangioma.
Topics: Adie Syndrome; Adult; Celiac Disease; Female; Hepatitis, Autoimmune; Humans; Lymphangioma, Cystic; Peritoneal Neoplasms
PubMed: 16552828
DOI: 10.3748/wjg.v12.i9.1485 -
Actas Dermo-sifiliograficas Sep 2005We present the case of a 43-year-old woman who presented with a localized area of anhidrosis on the upper left trunk and ipsilateral upper limb. It was associated with...
We present the case of a 43-year-old woman who presented with a localized area of anhidrosis on the upper left trunk and ipsilateral upper limb. It was associated with Adie's tonic pupil and an area of compensatory hyperhidrosis on the contralateral side. After 9 years of follow up, the alterations have remained stable. These alterations of the autonomous nervous system correspond to an incompletely expressed Ross syndrome.
Topics: Adult; Female; Follow-Up Studies; Humans; Hypohidrosis; Reflex, Abnormal; Syndrome; Tonic Pupil
PubMed: 16476274
DOI: 10.1016/s0001-7310(05)73111-2 -
American Journal of Ophthalmology Aug 2005The onset of pantothenate kinase-associated neurodegeneration (PKAN) occurs in the first and second decade of life and a pigmentary retinal degeneration is a feature of...
PURPOSE
The onset of pantothenate kinase-associated neurodegeneration (PKAN) occurs in the first and second decade of life and a pigmentary retinal degeneration is a feature of the disorder. Since the neuro-ophthalmologic and electroretinographic (ERG) features have never been well delineated, we describe them in 16 patients with PKAN.
DESIGN
Observational case series.
METHODS
Sixteen patients with genetic and neuroimaging-confirmed PKAN were examined. Ten underwent neuro-ophthalmologic examination and all had ERGs.
RESULTS
Of the 10 who underwent neuro-ophthalmologic examination, all showed saccadic pursuits and eight showed hypometric or slowed vertical saccades. Seven of eight had inability to suppress the vestibulo-ocular reflex; two patients could not cooperate. Two had square wave jerks and four had poor convergence. Vertical optokinetic responses were abnormal in five, and two patients had blepharospasm. Eight patients had sectoral iris paralysis and partial loss of the pupillary ruff consistent with Adie's pupils in both eyes. Only four of 10 examined patients showed a pigmentary retinopathy, but 11 of 16 had abnormal ERGs ranging from mild cone abnormalities to severe rod-cone dysfunction. No patient had optic atrophy. The PANK2 mutations of all of the patients were heterogeneous.
CONCLUSIONS
Adie's-like pupils, abnormal vertical saccades, and saccadic pursuits were very common. These findings suggest that mid-brain degeneration occurs in PKAN more frequently than previously thought. ERG abnormalities were present in approximately 70% and no patient had optic atrophy. Although genotype-ocular phenotype correlations could not be established, allelic differences probably contributed to the variable clinical expression of retinopathy and other clinical characteristics in these patients.
Topics: Adolescent; Adult; Aged; Brain; Child; DNA Mutational Analysis; Electroretinography; Female; Humans; Magnetic Resonance Imaging; Male; Ocular Motility Disorders; Pantothenate Kinase-Associated Neurodegeneration; Phosphotransferases (Alcohol Group Acceptor); Photoreceptor Cells, Vertebrate; Polymerase Chain Reaction; Retinal Degeneration; Tonic Pupil
PubMed: 16023068
DOI: 10.1016/j.ajo.2005.03.024 -
Journal of Korean Medical Science Apr 2005Harlequin syndrome is characterized by unilateral hyperhidrosis and flushing, which are predominantly induced by heat or exercise. Usually, the sympathetic deficits...
Harlequin syndrome is characterized by unilateral hyperhidrosis and flushing, which are predominantly induced by heat or exercise. Usually, the sympathetic deficits confine to the face. Rarely, the autonomic deficits involve the arm or the parasympathetic neurons in the ciliary ganglia. We report a 43-yr-old woman who presented with facial flushing and sweating in the right side, which were mainly induced by exercise. The facial flushing accompanied relative coldness in the right arm. Valsalva maneuver, cold pressure and 0.125% pilocarpine test, and computed tomography of the chest were normal. The crossed sympathetic deficit in the left face and right arm suggested that the lesions were multifocal. The sympathetic impairment in our patient may lie on a spectrum of pre- and postganglionic autonomic dysfunction, which was observed in Holmes-Adie, Ross, and Guillain-Barre syndromé.
Topics: Adult; Arm; Autonomic Nervous System Diseases; Face; Female; Flushing; Humans; Sweating; Syndrome
PubMed: 15832011
DOI: 10.3346/jkms.2005.20.2.329 -
Journal of Postgraduate Medicine 1998A patient with pre-existing bilateral tonic pupils presented with simultaneous bilateral glaucomatocyclitic crisis. Deep tendon reflexes were absent although they were...
A patient with pre-existing bilateral tonic pupils presented with simultaneous bilateral glaucomatocyclitic crisis. Deep tendon reflexes were absent although they were documented to be present 6 years ago. A possibility of a progressive autonomic dysfunction in both these conditions is discussed.
Topics: Adie Syndrome; Aged; Female; Humans; Iridocyclitis; Ocular Hypertension
PubMed: 10703577
DOI: No ID Found -
Journal of Neurology, Neurosurgery, and... Oct 1998The Holmes-Adie syndrome consists of unilateral or bilateral tonic pupils with near light dissociation and tendon areflexia. It is associated with autonomic disturbances...
The Holmes-Adie syndrome consists of unilateral or bilateral tonic pupils with near light dissociation and tendon areflexia. It is associated with autonomic disturbances affecting sudomotor and vasomotor function. Five such patients are reported on who also had a troublesome chronic dry cough, which was of unknown aetiology and was resistant to a range of treatments. The cough may be related to involvement of afferent or efferent pathways in the vagus. Chronic cough may be an accompaniment in the Holmes-Adie syndrome, like other forms of autonomic dysfunction.
Topics: Adie Syndrome; Adult; Chronic Disease; Cough; Female; Humans; Male; Middle Aged; Vagus Nerve
PubMed: 9771793
DOI: 10.1136/jnnp.65.4.583