Presentation
The 7-year-old presented with congenital ptosis and restricted eye movements. At the age of 2 years she had bilateral ptosis repair. [cags.org.ae]
At postoperative 12 months, all patients had motor success in the present group. [journals.plos.org]
There was no significant difference of the SO volume ratio between controls and the present group. [ajnr.org]
Four contiguous, 1-mm-thick MRI oblique axial image planes, obtained with heavy T 2 -weighting, are presented in rostral-to-caudal sequence. F igure 4. [iovs.arvojournals.org]
A significant V-pattern is present. There is a right hypertropia in right gaze and a left hypertropia in left gaze. Several other comments regarding the clinical evaluation are crucial. 1. [guwsmedical.info]
Entire Body System
- Weakness
[…] history : 4% Pathogenesis Evidence for herpes simplex type 1 infection Clinical Features Onset Paralysis: Progresses to maximal defecit over 3 to 72 hours Pain (50%): Near mastoid process Excess tearing (33%) Other: Hyperacusis; Dysgeusia Signs Facial weakness [neuromuscular.wustl.edu]
Ocular motor range, alignment and aberrant movement Twenty-nine subjects (74%) met the minimum diagnostic criteria for Moebius syndrome: facial weakness and ocular abduction weakness. [academic.oup.com]
Non-surgical first: Compression of the ulnar and radial nerves can produce pain, numbness, weakness in certain muscle groups. Diagnosis is made from the clinical exam, and confirmed by EMG studies. [healthtap.com]
The weakness was lower motor neuron type as there was absence of forehead wrinkles. There was no other cranial nerve palsy or associated major malformations and rest of the neurological examination was normal. [ispub.com]
Certain inherited abnormalities in muscle cause periodic paralysis, in which the weakness comes and goes. The line between weakness and paralysis is not absolute. A condition causing weakness may progress to paralysis. [medical-dictionary.thefreedictionary.com]
- Asymptomatic
Some asymptomatic cases have been reported. Last updated: 10/22/2018 [rarediseases.info.nih.gov]
Some asymptomatic cases have been reported.Visit the Orphanet disease page for more resources. [malacards.org]
The patient was a 24-year-old woman who noticed an asymptomatic mass in the parotidom… PMC Free PDF PMC Free Full Text Minimally Invasive Trigeminal Ablation: Long Buccal Nerve. [unboundmedicine.com]
Patients are often asymptomatic until the fourth to sixth decades of life, when their vertical fusional amplitudes diminish and diplopia develops. Most patients maintain a chronic head tilt. [aao.org]
The initial series of events is asymptomatic meningitis, which can remain in the human body system and produce more damage within the body. Every form of neurosyphilis has meningitis as a component; however, every case differs in severity. [howlingpixel.com]
- Surgical Procedure
A single surgical procedure was taken at a single secession of the surgery in most patients while two surgical procedures were done at a single secession only in the limited number of patients. [springerplus.springeropen.com]
To treat SO palsy, the most common surgical procedures were: isolated inferior oblique (IO) anteriorization (41.0%), isolated IO myectomy (10.3%), and isolated IO recession (10.3%). [ijo.cn]
History of the Procedure Surgical therapy for this condition has been refined over the last 30 years. [emedicine.medscape.com]
- Anemia
Autosomal recessive limb-girdle muscular dystrophy type 2H Bardet-Biedl syndrome Behavioral variant of frontotemporal dementia Bernard-Soulier syndrome Bullous pemphigoid Combined immunodeficiency due to STK4 deficiency Congenital dyserythropoietic anemia [csbg.cnb.csic.es]
Pagetoid neuroskeletal syndrome Pagetoid reticulosis, Woringer-Kolopp type Paget-Schrotter disease Paget's disease of the nipple PAGOD syndrome Pagon-Bird-Detter syndrome PAH PAH associated with another disease PAH associated with chronic hemolytic anemia [orpha.net]
PATOLOGIA IMMUNITARIA min. max. fisso 9302 ANEMIA EMOLITICA AUTOIMMUNE / / 41 9303 ARTRITE REUMATOIDE CON CRONICIZZAZIONE DELLE MANIFESTAZIONI / / 50 9312 GAMMAPATIA MONOCLONALE BENIGNA / / 25 9319 LINFOMI LINFOBLASTICI (NON HODGKIN) / / 60 9320 LUPUS [medisoc.it]
- Short Stature
stature-short fourth metatarsals-intellectual disability syndrome Progressive supranuclear palsy Progressive supranuclear palsy-apraxia of speech syndrome Progressive supranuclear palsy-corticobasal syndrome Progressive supranuclear palsy-parkinsonism [orpha.net]
Eyes
- Strabismus
Practically speaking, the specific muscle(s) involved and the etiology of a vertical strabismus not due to a fourth nerve palsy is often not resolved by the 3-step plus fourth step test, because acquired vertical strabismus is often the result of the [aao.org]
If left untreated or unrecognized, strabismus or misalignment of the eyes, can impair the development of normal vision and is recognized to be an inherited trait in some families. [clinicaltrials.gov]
In: Allen JH (ed) Strabismus ophthalmic symposium I. VC Mosby, St. Louis Google Scholar 10. [link.springer.com]
Strabismus. 9 (2): 83–90. PMID 11458297. External links [ edit ] [en.wikipedia.org]
Errors in the three-step test in the diagnosis of vertical strabismus. Ophthalmology. 1989 Jan. 96 (1):127-32. [Medline]. Kono R, Okanobu H, Ohtsuki H, Demer JL. [emedicine.medscape.com]
- Diplopia
Disease definition Familial congenital palsy of trochlear nerve is a rare, genetic, neuro-ophthalmological disease characterized by congenital fourth cranial nerve palsy, manifesting with hypertropia in side gaze, unexplained head tilt, acquired vertical diplopia [rarediseases.info.nih.gov]
A fourth nerve palsy typically causes diplopia that is worse in downgaze; hence, patients almost always report diplopia (or the tendency to close 1 eye) while reading. [aao.org]
91498Disease definitionFamilialcongenital palsy of trochlear nerve is a rare, genetic, neuro-ophthalmological disease characterized by congenital fourth cranial nerve palsy, manifesting with hypertropia in side gaze, unexplained head tilt, acquired vertical diplopia [malacards.org]
Diplopia from congenital fourth nerve palsy has occasionally been reported to manifest transiently during pregnancy. [en.wikipedia.org]
Torsional diplopia and downgaze horizontal diplopia may be predominant complaints in bilateral palsies. [17] Patients may adopt a characteristic head tilt, away from affected side to reduce their diplopia. [emedicine.medscape.com]
- Esotropia
Monocular visual outcome in untreated early onset esotropia. Br J Ophthalmol. 1993 Aug;77(8):492-4. Lyons CJ, Wilson CB, Horton JC. Association between meningioma and Cowden's disease. Neurology. 1993 Jul;43(7):1436-7. [ubcneuroophthalmology.ca]
Findings that suggest bilaterality include alternation of hypertropia with fixation, gaze, or head tilt: excyclotorsion of 10° or more: and V-pattern esotropia.286 3. [guwsmedical.info]
Patient has unilateral ptosis and esotropia. B. Patient has severe bilateral ptosis in primary position despite with marked frontalis effort. C. [slideshare.net]
In primary gaze, on prism bar cover test, a large angle alternating esotropia of >90 PD, with V pattern, was noted at 33 and 6 m. Nystagmus was absent. [ojoonline.org]
Two were status-post strabismus surgery, one with residual esotropia and the other with esotropia at near only. [academic.oup.com]
- Enophthalmos
Facial asymmetry (i.e. hemifacial retrusion, upward slanting of mouth on the side of the head tilt, mild enophthalmos of paretic eye) and superior oblique tendon abnormalities (such as absence, redundance, misdirection) are frequently associated. [rarediseases.info.nih.gov]
[…] internal carotid aneurysm; Ipsilateral Horner's syndrome, Tolosa-Hunt syndrome ipsilateral IlIrd, Vth, Vlth nerve involvement; proptosis; disc edema; orbital pain Orbit Tumor; trauma; inflammation Ipsilateral IIIrd, VIth nerve involvement; proptosis; enophthalmos [guwsmedical.info]
Enophthalmos. Horner's syndrome is distinguished from physiological anisocoria by instillation of a drop of 4% cocaine: in physiological anisocoria, this results in dilation, whereas it doesn't where there is a Horner's syndrome. [patient.info]
- Vertical Gaze Palsy
Parinaud's syndrome Parinaud's syndrome, also known as dorsal midbrain syndrome, vertical gaze palsy, and sunset sign, is an inability to move the eyes up and down. [howlingpixel.com]
Parinaud's syndrome (vertical gaze palsy caused by a pineal tumour ). Giant cell arteritis. Extradural haematoma, which can cause a progressively dilating pupil, due to gradual compression of the third nerve. [patient.info]
Neurologic
- Stroke
[…] selectively affects somatic fibers over parasympathetic fibers, while traumatic stroke affects both types more equally. [howlingpixel.com]
Causes can be many, including stroke, trauma, ...Read more [healthtap.com]
Words describing the distribution of paralysis use the suffix "-plegia," from the Greek word for "stroke." [medical-dictionary.thefreedictionary.com]
FRCP Harvard Medical School Thalamic Stroke and Disordered Sleep Kenneth C. Sassower, M.D. Instructor in Neurology Division of Clinical Neurophysiology Massachusetts General Hospital Third Nerve Palsy Shirley H. Wray, M.D. Ph.D. [repository.countway.harvard.edu]
[…] palsy newborn P11.3 ICD-10-CM Diagnosis Code P11.3 Birth injury to facial nerve 2016 2017 2018 2019 Billable/Specific Code Code on Newborn Record Applicable To Facial palsy due to birth injury Benedikt's G46.3 ICD-10-CM Diagnosis Code G46.3 Brain stem stroke [icd10data.com]
- Cranial Neuropathy
The same is true of lesions in area of cavernous sinus and orbital apex, which generally produce multiple cranial neuropathies. [emedicine.medscape.com]
- Stupor
Lobe Occipital Infarct Homonymous Hemianopia Visual Phenomena Migraine Visual Aura Palinopsia Release Hallucinations Visual Neglect Midbrain Infarct Hemorrhage Pons Infarct Hemorrhage Hypoxia Medulla Infarct Hemorrhage Cerebellum Chiari Malformation Stupor [repository.countway.harvard.edu]
Treatment
He is currently involved in multiple clinical trials of novel genetic interventions for the treatment of spinal muscular atrophy and Duchenne muscular dystrophy. [books.google.com]
A Cochrane Systematic Review compared several surgical treatments (myectomy, recession, anterior transposition, disinsertion) in people with fourth nerve palsy. [7] While there was not enough high-quality evidence to recommend the best surgical treatment [en.wikipedia.org]
[…] of Bell's palsy Statistical degrees of benefit from drug treatment Prednisone > Placebo More benefit when treatment started within 3 days of onset No benefit from treatment starting more than 10 days after onset Corticosteroids Use within one week of [neuromuscular.wustl.edu]
We've obviously reborrowed the full form "paralysis" into English as well; today ...Read more 12 What is the treatment for median nerve entrapment? Depends on severity! [healthtap.com]
Patients who underwent IO myectomy as the first surgical treatment were included. [journals.plos.org]
Prognosis
The prognosis of a fourth nerve palsy depends on the underlying etiology. [emedicine.medscape.com]
Prognosis When a child presents with a postinfectious, isolated trochlear palsy that cannot be explained as congenital, traumatic, restrictive, myasthenic, or neoplastic, the prognosis is good and observation alone is sufficient. [guwsmedical.info]
[…] titers Electrodiagnositic testing: In severe paresis to determine extent of injury Variant: Bilateral simultaneous facial palsy 12 Frequency: 0.4% of Bells palsy Onset in 2nd nerve: 1 to 6 days after 1st nerve paresis Severity: Often severe bilaterally Prognosis [neuromuscular.wustl.edu]
Traumatic facial palsy in neonates is associated with good prognosis as seen in the index case. In contrast nontraumatic facial palsies carry a poor functional outcome [ 13, 14 ]. [ispub.com]
PATOLOGIA NEOPLASTICA min. max. fisso 9322 NEOPLASIE A PROGNOSI FAVOREVOLE CON MODESTA COMPROMISSIONE FUNZIONALE / / 11 9323 NEOPLASIE A PROGNOSI FAVOREVOLE CON GRAVE COMPROMISSIONE FUNZIONALE / / 70 9325 NEOPLASIE A PROGNOSI INFAUSTA O PROBABILMENTE [medisoc.it]
Etiology
SO hypoplasia of ≤75% compared with the contralateral normal side suggests trochlear nerve absence as the etiology of congenital SOP. Footnotes H.K. Yang and D.S. Lee contributed equally to this work. [ajnr.org]
Incidence and Etiology of Presumed Fourth Cranial Nerve Palsy: A Population-based Study. Am J Ophthalmol. 2018 Jan. 185:110-114. [Medline]. Richards BW, Jones FR Jr, Younge BR. [emedicine.medscape.com]
Etiology of Fourth Nerve Palsy. [guwsmedical.info]
The most common etiology was congenital (94.9%). Knapp’s Type III (66.7%) and Type I (12.8%) classifications were the most common subtypes. [ijo.cn]
Practically speaking, the specific muscle(s) involved and the etiology of a vertical strabismus not due to a fourth nerve palsy is often not resolved by the 3-step plus fourth step test, because acquired vertical strabismus is often the result of the [aao.org]
Epidemiology
[…] lymphoblastic leukemia Spinocerebellar ataxia type 1 Spondylocarpotarsal synostosis Synonym(s): - Inherited congenital spastic quadriplegia Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): (no data available) Epidemiological [csbg.cnb.csic.es]
[…] tightly together: Difficulty keeping food in mouth Facial muscle atrophy (Late) Electrophysiology EMG Denervation Synkinesis: Late Blink reflex Abnormal ipsilateral R1 (early, disynaptic) R2 (late multisynaptic) responses Synkinesis (Late) Bell's Palsy 8 Epidemiology [neuromuscular.wustl.edu]
Epidemiology Frequency Most cases of isolated fourth nerve palsy are believed to be congenital. [4] However, estimating the true frequency of congenital fourth nerve palsy is difficult. [emedicine.medscape.com]
Pathophysiology
Her research aims to identify genetic aetiologies for a range of inherited diseases (monogenic types of diabetes and vertebral dysegmentation disorders in addition to CCDDs) in order to understand the underlying pathophysiology and provide genetic testing [yumpu.com]
Pinealoma Para Myokymia of the superior oblique muscle (typically with brief episodic ocular movements that cause subjective visual shimmering, ocular trembling, and/or tilted vision) Entrapment of the trochlear nerve by a vascular loop (similar to the pathophysiology [merckmanuals.com]
Pathophysiology [ edit ] The fourth cranial nerve innervates the superior oblique muscle for each eye. The superior oblique muscle is one of the six extraocular muscles that allow movement of eye. [en.wikipedia.org]
[…] adrenoleukodystrophy, 113 Neonatal facial asymmetry, 169-192 Neostigmine, 141 Nerve injuries, 266 Neuroaxonal dystrophy, 104 Neuroblastoma, 257 Neurocutaneous melanosis, 301 Neurocutaneous syndrome, 287, 295-308 Neurofibromatosis, 301 Neuromuscular disorders, pathophysiology [pediatricneuro.com]
Prevention
Other eye doctors recommend surgery early in a patient's life to prevent the compensatory torticollis and facial asymmetry that develop with age. [en.wikipedia.org]
Prevention Prevention of paralysis depends on prevention of the underlying causes. Risk of stroke can be reduced by controlling high blood pressure and cholesterol levels. [medical-dictionary.thefreedictionary.com]
It is unknown, however, whether early strabismus surgery can prevent or reverse facial asymmetry. [guwsmedical.info]
Therefore, extreme measures are taken in hospital settings to prevent the condition by reducing intracranial pressure, or decompressing (draining) a hematoma which is putting local pressure on a part of the brain. [howlingpixel.com]