Pupila tónica como manifestación inicial de un síndrome de Sjögren / Tonic pupil as an initial manifestation of Sjögren's syndrome

No disponible

Predictors of outcome in civilians with gunshot wounds to the head upon presentation.

OBJECT: Prediction of outcome from initial presentation after a gunshot wound to the head (GSWH) is essential to further clinical decision making. The authors' goals are to report the survival and functional outcomes of these patients, to identify prognostic factors, and to propose a scoring system that can predict their outcome. METHODS: The records of 199 patients admitted with a GSWH with dural penetration between 1990 and 2008 were retrospectively reviewed. The inclusion criterion was a CT scan available for review. Patients declared brain dead on presentation were excluded, which yielded a series of 119 patients. Statistical analysis was performed using a logistic regression model. RESULTS: Fifty-eight (49%) of the 119 patients died. Twenty-three patients (19%) had a favorable outcome defined as a 6-month Glasgow Outcome Scale (GOS) score of moderate disability or good recovery, 35 (29%) had a poor outcome (GOS of persistent vegetative state or severe disability), and 3 (3%) were lost to follow-up. Significant prognostic factors for mortality were age older than 35 years, nonreactive pupils, bullet trajectory of bihemispheric (excluding bifrontal), and posterior fossa involvement compared with unihemispheric and bifrontal. Factors that were moderately associated with higher mortality included intracranial pressure (ICP) above 20 mm Hg and Glasgow Coma Scale (GCS) score at presentation of 3 or 4. Upon multivariate analysis, the significant factors for mortality were bullet trajectory and pupillary response. Variables found to be significant for good functional outcome were admission GCS score greater than or equal to 5, pupillary reactivity, and bullet trajectory of unihemispheric or bifrontal. Factors moderately associated with good outcome included age of 35 years or younger, initial ICP 20 mm Hg or lower, and lack of transventricular trajectory. In the multivariate analysis, significant factors for good functional outcome were bullet trajectory and pupillary response, with age moderately associated with improved functional outcomes. The authors also propose a scoring system to estimate survival and functional outcome. CONCLUSIONS: Age, pupils, GCS score, and bullet trajectory on CT scan can be used to determine likelihood of survival and good functional outcome. The authors advocate assessing patients based on these parameters rather than pronouncing a poor prognosis and withholding aggressive resuscitation based upon low GCS score alone.

Complete Vogt-Koyanagi-Harada disease and Holmes-Adie syndrome: case report.

We report a 37-year-old woman with uveitic phase of Vogt Koyanagi Harada disease and tonic pupil, the tonic pupil persisted after other clinical features of this syndrome had disappeared; neurological evaluation shows absent knee and arm tendon reflexes and positive cholinergic supersensitivity test with Pilocarpine 0.125% confirming the diagnosis of Holmes Adie Syndrome.

[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.

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.

Síndrome de Adie y nefropatía crónica / Adie syndrome and chronic nephropathy

No disponible

Bilateral tonic pupils: Holmes Adie syndrome or generalised 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.

Holmes-Adie syndrome, autoimmune hepatitis and celiac disease: a case report.

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.

Segmental facial anhidrosis and tonic pupils with preserved deep tendon reflexes: a novel autonomic neuropathy.

A 31-year-old woman had exertional right-sided hemifacial flushing and sweating. Examination demonstrated slightly dilated pupils with absent constriction to light and a tonic near response and redilatation, features consistent with Adie syndrome. Neurological examination was otherwise normal, including preservation of deep tendon reflexes. Magnetic resonance imaging of brain and spine were normal. The combination of unilateral loss of sudomotor and vasomotor activity without loss of ocular sympathetic innervation fulfills the diagnosis of Harlequin syndrome. The combination of Harlequin and Adie syndromes has been called Ross syndrome, but the preservation of deep tendon reflexes precludes a diagnosis of Ross syndrome in our patient. This previously undescribed variant adds further complexity to the spectrum of autonomic neuropathies.

Idiopathic unilateral hyperhidrosis with Holmes-Adie syndrome: case report.

Hyperhidrosis is a disease that is characterized by excessive sweating due to hyperactivation of eccrine sweat glands. It may be localized or generalized form. Holmes-Adie syndrome is an idiopathic disease with unilateral pupil dilatation and loss of deep tendon reflexes. We present a 37-year-old female patient diagnosed with unilateral hyperhidrosis coincident with Holmes-Adie syndrome because of this unusual presentation.