Upward Deviation Of Eyes Research Articles

A Rare Pediatric Encounter: Diagnosing and Managing Upward Eye Deviation Due to Maxillary Sinus Hydatid Cyst

A Rare Pediatric Encounter: Diagnosing and Managing Upward Eye Deviation Due to Maxillary Sinus Hydatid Cyst

Diagnosis of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency via Epilepsy Gene Panel Screening in a Patient with Atypical Presentation

We describe an atypical presentation of a girl with aromatic L-amino acid decarboxylase (AADC) deficiency identified via a genetic testing program for children with epilepsy. At 21 months of age, she presented with poor head control, diffuse hypotonia, poor fixation, developmental delay, and dysphagia. She was lost to follow-up, then presented back at 3 years of age with staring spells and brief episodes of upward eye deviation. The diagnosis of unprovoked epilepsy allowed her to be included in a genetic testing program, which identified two heterozygous variants in the dopa decarboxylase (DCC) gene. Based on the genetic testing, plasma AADC enzyme activity and plasma 3-O-methyldopa results, a diagnosis of AADC deficiency was made when she was 4 years and 2 months of age. This case report shows that AADC deficiency can be the underlying diagnosis in patients with suspected epilepsy.

Teaching Video NeuroImage: Oculogyric Crises in a 12-Year-Old Girl With Rapid-Onset Dystonia Parkinsonism.

A 12-year-old girl presented to the emergency department for forced upward eye deviation for 2 hours with craniocervical dystonia and intact consciousness. During the half-year, she experienced several emotionally triggered attacks (Video 1). Sudden-onset dystonic gait occurred 1 month before the first attack and progressively deteriorated with subsequent attacks. All limbs showed bradykinesia and rigidity without ataxia. Normal EEG and consciousness suggested oculogyric crises rather than epilepsy. A de novo pathogenic variant in ATP1A3 (c. 2767 G > A) confirmed rapid-onset dystonia parkinsonism (Figure), which is not generally dopa-responsive.1 However, since her oculogyric crises might correlate with a hypodopaminergic state,2 levodopa was beneficial. Adding flunarizine improved her condition.

Adverse reaction to Coartem (artemether/lumefantrine) resulting in oculogyric crisis

BackgroundArtemether/lumefantrine (AL), sold under the brand name Coartem, is the most common artemisinin-based combination therapy for the treatment of malaria. Drug-induced oculogyric crisis is a neurological disorder characterized by frequent upward deviations of the eye. In the literature, no cases of Coartem-induced oculogyric crisis have been reported in Ghana.Case presentationA 19-year-old male patient, who presented fever measuring 37.9 °C, general body pains, and weakness was prescribed with antimalarial therapy artemether/lumefantrine, Coartem®, from a local pharmacy. Just after initiation of treatment, the patient complained of double vision, involuntary upward eye deviation, and inability to close both eyes. The patient was diagnosed with Coartem-induced oculogyric crisis and was treated with the cessation of the causing agent and intramuscular injection of promethazine hydrochloride.ConclusionsWhen a patient exhibits a neurological disorder, such as oculogyric crisis, with normal conscious state and normal vital signs, special attention should be given to obtaining a history of recently administered medications. Clinicians should recognize adverse reactions to drugs based on a thorough patient history and examination. The goal of this report was to present Coartem-induced oculogyric crisis.

Seizure Mimics: Oculogyric Crisis Following Metoclopramide-Video

A 9-year-old girl who experienced a seizure disorder was referred to our hospital by a medical practitioner. She presented with recurrent episodes of upward deviation of eyes with neck pain. She had taken tab metoclopramide 10 mg every 8 hours one day before for gastroenteritis. She was aware but unable to voluntarily control the attacks. On examination, she had sustained conjugate upward and lateral deviation of the eyes (oculogyric crisis), without loss of consciousness ([Fig. 1] [Video 1]). Symptoms disappeared rapidly following administration of IV promethazine 0.5 mg/kg slowly, and she remained well during follow-up 1 week later. Oculogyric crisis (OGC) is characterized by a prolonged involuntary upward deviation of the eyes. These episodes generally last for minutes, but can range from seconds to hours. Etiology includes drug-induced reactions, hereditary and sporadic movement disorders, and focal brain zdlesions. The majority of OGC cases occurred as adverse effects of neuroleptics and antiemetics. OGC usually disappears within 24 to 48 hours of drug withdrawal. Administration of anticholinergics (benztropine) or antihistamines (diphenhydramine) can alleviate OGC within minutes. The incidence of metoclopramide-induced acute dystonias is 0.2% with female preponderance.[1] A systematic review and meta-analysis revealed that the most common adverse effects following metoclopramide in children were extrapyramidal symptoms (9%), diarrhea (6%), and sedation (6%).[2] Ozel et al reported acute dystonic reaction due to metoclopramide in a 20-year-old female, which was misinterpreted as conversion disorder and seizure.[3] Acute dystonic reactions due to metoclopramide can be confused with conversion disorders, seizures and encephalitis.[1] [3] Our patient was also referred to our center by a medical practitioner on account of a presumed diagnosis of seizure disorder.

Spotlight on Oculogyric Crisis: A Review.

Background:Oculogyric crisis (OGC) is a form of acute dystonia characterized by sustained dystonic, conjugate, and upward deviation of the eyes. It was initially reported in patients with postencephalitic parkinsonism. But later, other factors such as medications, movement disorders, metabolic disorders, and focal brain lesions were also found to be associated with OGC.Methods:The literature regarding OGC was searched via PubMed, Google Scholar, and through citations in relevant articles till December 2019, with keywords including OGC, oculogyric eye movements, tonic eye movement, neuroleptics and OGC, antipsychotics and OGC, and all combinations of these. Only original articles (abstract or full text) that were published in the English language were reviewed.Results:Hypodopaminergic state is implicated in the pathogenesis of OGC. Common risk factors are younger age, male sex, severe illness, high neuroleptic dose, parenteral administration of neuroleptics, high potency of neuroleptic drugs, abrupt discontinuation of anticholinergic medication, and family history of dystonia.Conclusion:OGC is an acute dystonic reaction leading to tonic upward deviation of eyes. It is associated with various neurometabolic, neurodegenerative, and movement disorders and medications such as antipsychotics, antiemetics, antidepressants, antiepileptics, and antimalarials. OGC can adversely impact the compliance and prognosis of the primary illness. Hence, it needs to be managed at earlier stages with appropriate medication, primarily anticholinergics.

Cases of aadc deficiency need detection as a treatable cause of dystonia and persistent upward deviation of eyes masquerading as seizures

Cases of aadc deficiency need detection as a treatable cause of dystonia and persistent upward deviation of eyes masquerading as seizures

SAT-483 A Rare Case of Pituitary Adenoma: The Mysterious Crooke's Cell Adenoma

Cushing's disease is caused by an excess of cortisol. In a cushingoid state, excess cortisol leads to a cytoplasmic accumulation of cytokeratin filaments. This accumulation of cytokeratin filaments and hyalinization characterizes a Crooke cell tumor which is an interesting variant of corticotroph adenoma (1) This transformation is known as Crooke’s cell transformation. Crooke’s cell tumors are very rare (largest case series of 36) reported by George et al. (2), aggressive, and prone to recurrence after resection which makes identification and distinction from adenomas important for treatment and patient management. A 42-year-old Caucasian male, with a PMH of obesity, HTN, DM2, and refractory hypokalemia presented to the hospital, with symptoms of headache, eye pressure, bilateral pedal edema, and weight gain x 4 weeks. admitted for evaluation with suspicion for Cushing's syndrome. The patient appeared cushingoid with positive parinaud sign (limited upward eye deviation) suggestive of a pituitary mass. CT head revealed a 1.2cm right pituitary macroadenoma with remodeling of sella turcica. Random cortisol 39.6 and ACTH 140. Dexamethasone suppression testing, low and high dose, failed to suppress cortisol production which suggested hypercortisolism from an ectopic source. Inferior petrosal sinus sampling confirmed pituitary Cushing's with lateralization to the right pituitary, as the source of hypercortisolemia. The patient underwent endoscopic endonasal transsphenoidal (EET) resection of pituitary macroadenoma, Postoperatively cortisol levels initially decreased, plateaued and then began rising again with suspicion for a residual tumor in the sella. The patient underwent repeat EET mass resection. Cortisol levels dropped and reached a nadir of 3.0 with ACTH 13 upon discharge. Pathology results revealed Crooke cell adenoma. Discussion: Crooke’s cell tumors are a rare variant of pituitary adenoma and are important to distinguish from other types of adenomas due to their unique cellular behavior. There isn’t a good explanation as to why these tumors cause hyalinization and despite this hyalinization and microfilament deposition, which would be expected to suppress functionality, result in increased production of ACTH. There have been cases reported multiple recurrences in patients requiring repeat surgical removal. Prompt and complete resection may limit the risk for recurrence, and the increase in morbidity and mortality that are inherent to tumor regrowth and continued invasive resection. Additionally, nonsuppressable serum cotrisol with high dexamethasone dose in the presence of pituitary tumor , should raise possibility of Crook cell tumor in addition to paraneoplastic syndromes . conclusion: this case highlights the importance of suspecting Crooke’s tumor in patients with evidence of pituitary adenoma and Cushing’s syndrome.

The first sign of loss of consciousness

The first clinically observable sign of an unconsciousness episode (UNCE) serves as the temporal sequence (kinetics) onset point for neurological events occurring during the loss of consciousness, unconsciousness and recovery of consciousness phases of the UNCE. The initial neurologic signs of 212 individuals exposed to gradual (N=114) and rapid (N=98) onset +Gz acceleration stress, inducing the ischemic LOC phase in 83.3±18.6s and 8.89±1.52s; p<0.001 respectively, were determined. The duration of the unconscious phase (considered absolute incapacitation) was 10.42±5.3s and 9.36±3.99s; p>0.1 for gradual and rapid onset +Gz-stress, respectively. Cerebral autoregulation may play a role in determination of ischemic UNCE induction and recovery. Five signs: loss of muscle control, eyelid closure, eye fixation, upward eye deviation, and muscular twitching occurred at LOC phase onset. The most frequent initial sign of LOC phase onset was loss of muscle control (84% of the episodes), followed by eye fixation (8.5%), and upward eye deviation (6.1%). Signs play a key role in differential diagnosis of syncopal, epileptic, psychogenic and other causes of UNCEs. Sign kinetics may provide insight into localization of the essential components and networks within the cephalic nervous system associated with UNCEs.

Paroxysmal Tonic Upgaze Presenting as a Clinical Isolated Syndrome

We report a 3.5-year-old boy with sudden onset of episodic upward deviation of the eyes that led to diagnosis of paroxysmal tonic upgaze. Cranial magnetic resonance imaging showed right-hand side dominant bilateral hyperintense lesions in the mesencephalon and the thalamus on T2-weighted images. These lesions suggested a demyelinating pathology. Corticosteroid treatment was started. The episodes of upward eye deviation and the lesions on magnetic resonance imaging completely resolved after 3 days and 3 months, respectively. After 2 years of follow-up, he was symptom-free. Our patient with an isolated brain stem syndrome and no mental status changes was diagnosed as having a clinical isolated syndrome.

Paroxysmal tonic upgaze of childhood with co‐existent absence epilepsy

Paroxysmal tonic upgaze (PTU) is a childhood oculomotor syndrome of unclear etiology characterized by episodic tonic upward eye deviation with neck flexion. Neuroimaging findings are often normal and the electroencephalography during episodes is typically normal. We describe a 2-year-old boy who presented with macrocephaly, hypotonia, developmental delay and episodes of eye fluttering, head nodding and unresponsiveness. Video-EEG captured absence seizures and he was treated with valproate, which led to improvement of his seizures. However, two weeks after treatment, he developed paroxysmal episodes of "eyes up and chin down" movements lasting for hours at a time which were captured by home video. The episodes were relieved by sleep and exacerbated by fever, stress and even tactile stimulation. Increasing the dose of valproate resulted in increased frequency of the episodes. A repeat video-EEG disclosed the non-epileptic nature of these events. Discontinuation of valproate dramatically decreased the episodes. This case illustrates that paroxysmal tonic upgaze of childhood may co-exist with early onset absence epilepsy. Furthermore, valproate treatment may be associated with the development or unmasking of PTU suggesting that the pathophysiology of PTU may involve abnormal GABA neurotransmission. [Published with videosequences].

“Simple dissociative disorder” in Central Europe: a case report

“Simple dissociative disorder” has been proposed as subcategory of dissociative disorder [7,8]. However, because it has exclusively been described in India so far [1,2], it is unclear whether the diagnosis is bound to this sociocultural background. Here we describe for the first time a European patient presenting with simple dissociative disorder, who gave permission for publishing his case. Mr. A, a 36-year-old construction worker of Spanish origin, resident in Switzerland for years, with no previous psychiatric history, was found by the police without ticket in a train. He was unable to speak and was thus referred to hospital. The patient was mutistic and showed intermittent episodes of stupor lasting up to a few hours, during which he did not respond to moderate pain and showed an upward eye deviation. Between stuporous episodes he was somnolent, but reacted slowly to commands and intermittently carried out complex movements and non-verbal communication. At one time, he tried to suicide himself by means of a plastic bag put over his head. Except for slight dehydration, clinical work-up (neurologic exam, CT, EEG, blood and urine tests, and psychotropic drug screening) was normal. After 3 days, during which he was treated orally with lorazepame 4 mg/day and haloperidol 10 mg/day, he was visited by his wife and his 2-year-old daughter. Upon first contact with his child, he immediately regained full consciousness, the ability to speak, and to interact socially. Cognitive function was normal as indicated by the MMSE. Medication was discontinued. Mr. A reported retrospectively that he regularly worked 16 h a day and that his wife had threatened him with divorce on the morning of his train journey. After having strolled aimlessly along railway tracks in suicidal intention, he came to a station and took a train. Thereafter, he became unable to speak. He had a somewhat blurry memory of major parts of his mutistic episode and an emotional indifference to it. A follow-up interview was conducted after 4 weeks, and psychopathology had not reoccurred.

Paroxysmal Tonic Upgaze and Partial Tetrasomy of Chromosome 15: A Novel Genetic Association

Paroxysmal tonic upgaze of childhood is an eye movement abnormality characterized by periodic episodes of conjugate upward eye deviation. Although the spectrum of paroxysmal tonic upgaze has broadened considerably, a specific pathophysiology has not been elucidated. We report an infant with paroxysmal tonic upgaze who presented to his pediatrician with associated hypotonia and gross motor delay. High-resolution chromosome analysis demonstrated a supernumerary dicentric bisatellited marker chromosome. Analysis revealed partial tetrasomy of 15q. Given the significant amount of euchromatin demonstrated, it is likely that the chromosomal abnormalities are causative for the constellation of manifestations in this patient. To date, a specific genetic abnormality has not been associated with paroxysmal tonic upgaze. The finding of a genetic association with paroxysmal tonic upgaze might help characterize the substrate for ophthalmologic manifestations. Further study in this chromosomal region in patients with paroxysmal tonic upgaze is warranted.

Encephalopathy After Bone Marrow Transplantation

Encephalopathy After Bone Marrow Transplantation

The eye movements of syncope.

We videotaped the eye movements of syncope in 25 healthy volunteers who induced fainting by hyperventilation and Valsalva maneuver on a tilt table. In an additional three subjects, syncope was similarly induced during horizontal sinusoidal oscillation on a rotating chair while eye movements were recorded by electro-oculogram. Fourteen of 25 subjects experienced syncope on the tilt table. Six had downbeat nystagmus (DBN) at the onset that evolved into upward eye deviation, whereas seven showed isolated tonic upward deviation. In one subject the eyes remained in primary position. The gain of the vestibulo-ocular reflex (VOR) increased by 65% on average during syncope with concurrent vestibular stimulation. DBN, upward eye deviation, and increased VOR gain may all be caused by vestibular disinhibition caused by cerebellar hypoperfusion.

Clinical and electroencephalographic features of complex partial seizures in infants

The clinical and electroencephalographic (EEG) features were evaluated in a consecutive series of 50 infants with complex partial seizures. The age of onset of seizures showed a peak at age of 2 months. Significant development delay was seen in 60% of the infants. In 92% an underlying aetiological factor could be identified. Birth asphyxia was the commonest aetiological factor (30%). The seizure patterns were most frequently described as behavioural arrest, upward deviation of eyes, tonic posturing of the limbs, apnoea and cyanosis. Interictal EEG showed bilateral temporal lobe foci in 22%, unilateral foci in 78% and multiple foci in 46% of the cases. The response of the seizures to anticonvulsant drugs is discussed.

Counter-rolling after regional destruction of the saccule by laser spot irradiation in the guinea pig.

Destruction of the anterior one-third of the right saccule in the guinea pig resulted in a marked eye deviation simultaneously towards the ear and downward on the operated side and a marked upward eye deviation on the non-operated side in the standard head position. During head inclination towards the operated side, both eyes showed a disturbed ocular counter-rolling (OCR). The disturbance of OCR was more severe in the eye on the operated side than in the eye on the non-operated side. Brief interpretation about eye position in the standard head position in the regional destructive group showed that the eye ball on the operated side showed a marked deviation simultaneously upward and towards the ear, while the eye ball on the non-operated side showed an upward deviation on the 1st and 3rd days after the operation. OCR after regional destruction was seen as follows: During head inclination towards the operated side, both eyes showed disturbed OCR. The disturbance of OCR was more severe in the eye on the operated side. Most animals in our experiment showed this disturbed OCR which was compensated and normalized by the third postoperative week; relatively shorter (faster) than the total destruction. These results suggest that when the head is inclined around its longer axis, the saccule on the side of head inclination plays a principal role in the otolith-ocular reflex.

Regional differences of brain glucose metabolic compensation after unilateral labyrinthectomy in rats: a [ 14C]2-deoxyglucose study

A unilateral labyrinthectomy was performed on anesthetized adult albino rats. Brain [ 14C]2-deoxyglucose (2DG) uptake was measured autoradiographically 3.5 h to 20 days later and compared to sham-operated controls. In the vestibular nuclei (nn.) of labyrinthectomized subjects, large left-right differences of 2DG uptake occurred, which decreased over time. The equalization of vestibular nuclear 2DG uptake paralleled behavioral compensation of body, neck and head postural abnormalities, and known equalization of vestibular nuclear cell firing rates during compensation. There was a small difference of 2DG uptake in medial and lateral vestibular nn. 20 days after lesions when animals had a residual head tilt and tonic eye deviation. In the oculomotor nn., trochlear nn. and interstitial n. of Cajal, large left-right differences of 2DG uptake occurred, which did not change over time. The higher 2DG uptake in these nn. occurred ipsilateral to the labyrinthine lesion and did not correlate with the onset and cessation of nystagmus. The persistent asymmetry did appear to correlate with ipsilateral downward and contralateral upward eye deviation which continued for long periods after the lesion. We hypothesize that the non-compensating metabolic asymmetry in the oculomotor and trochlear nn. could be due to lesioned otolithic input to the vestibular nn. which relays to trochlear and oculomotor nn.

Persistent upward eye deviation Report of two cases

Two cases of persistent upward eye deviation (PUED), each lasting about one month, are reported. In the first case, no deficit in eye motility was noticed and the ocular deviation appeared only in the upright posture. In the second case the oculomotor disorder, which was independent of the patient's position, was associated with an incomplete paresis of the downward gaze and with a Roth-Bielschowsky syndrome.After a review of all similar cases in the literature, it was concluded that PUED is not necessarily the consequence of a downward gaze palsy but can also represent a primary dystonic disorder of the superogyric eye muscles, probably the result of a change in the neuronal systems which regulate the upright posture.Pued is more frequently associated with a downward gaze palsy. It is suggested that oculomotor disorder may be produced not only by an alteration of the oculovestibular reflexes, but also by an imbalance in the influences controlling the vertical pursuit.

The mechanism of inhibition of caloric nystagmus by eye closure.

24 normal adults and 324 clinical cases were examined, for the purpose of shedding light on the mechanism of inhibition of caloric nystagmus by eye closure. When the eyes were closed, an eye was suddenly adducted 13 +/- 5 degrees and elevated 55 +/- 11 degrees. These adductive and upward eye movements were normal responses caused by eye closure. Caloric nystagmus was inhibited by upward eye deviation. With the turning down of the vertical eye position, the caloric-nystagmus inhibition was released. During eye closure, there were four types of vertical eye-movement responses: (a) holding the eye position up, (b) fluctuation around an upward eye position, (c) gradual downward turning, (d) sudden downward turning, Types a, b and c were seen in normal subjects. However, type d was not seen in normal people.