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Familial Congenital Palsy of Trochlear Nerve


Presentation

  • 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]
  • 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]
  • 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]
  • There was no significant difference of the SO volume ratio between controls and the present group.[ajnr.org]
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]
Physician
  • In 2007 he received the Distinguished Physician Award from the American Association of Neuromuscular and Electrodiagnostic Medicine. Lahey Clinic's Medical Staff Association recognized Dr.[books.google.com]
  • Ophthalmological Society, Canadian Society of Oculoplastic Surgery, Chinese Canadian Medical Society, European Society of Ophthalmic Plastic and Reconstructive Surgery, North American Neuro-Ophthalmology Society, Ontario Medical Association, Royal College of Physicians[emedicine.medscape.com]
Decompression Sickness
  • sickness] 2016 2017 2018 2019 Non-Billable/Non-Specific Code Applicable To Compressed-air disease Diver's palsy or paralysis divergence H51.8 (nuclear) ICD-10-CM Diagnosis Code H51.8 Other specified disorders of binocular movement 2016 2017 2018 2019[icd10data.com]
High Arched Palate
  • arch palate; supernumerary molar tooth 2.36 2.18 10 G 67 F CFEOM3 Bilateral Bilateral Right cataract 0.55 * 0.70 * 11 G 48 F CFEOM3 Bilateral Bilateral 1.14 * 1.25 * 12 H 32 M CFEOM3 Bilateral Bilateral Right amblyopia 1.14 * 1.14 * 13 H 39 F CFEOM3[iovs.arvojournals.org]
Myopathy
  • […] research laboratories of Boston Children's and other institutions, focuses on the description of novel mutations in patients with neuromuscular diseases and the application of new technologies to explore the pathogenesis and treatment of congenital myopathies[books.google.com]
  • G713Mitochondrial myopathy, not elsewhere classified G718Other primary disorders of muscles G719Primary disorder of muscle, unspecified G720Drug-induced myopathy G721Alcoholic myopathy G722Myopathy due to other toxic agents G723Periodic paralysis G7281Critical[cms.gov]
  • […] due to glycogen metabolism abnormalities, 147 Myotubular myopathy, 146, 166 Myositis, infantile, 145 Myotonic dystrophy, 142, 165 apnea, 33 Myotubular myopathy, 146, 166 N Top N-acetylglutamic acid synthetase deficiency, 80 Narcotic-analgesic withdrawal[pediatricneuro.com]
  • […] lymphoblastic leukemia Young adult-onset Parkinsonism LEOPARD syndrome Noonan syndrome Pilocytic astrocytoma Lymphangioleiomyomatosis Tuberous sclerosis Giant cell glioblastoma Gliosarcoma Cardiofaciocutaneous syndrome Chronic myeloid leukemia Inclusion body myopathy[csbg.cnb.csic.es]
  • […] with extrapyramidal signs Proximal myopathy with focal depletion of mitochondria Proximal myotonic dystrophy Proximal myotonic myopathy Proximal renal tubular acidosis Proximal renal tubular acidosis with ocular abnormalities and intellectual disability[orpha.net]
Muscular Atrophy
  • 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]
  • atrophy, cervical, 163 lumbar, 163 Spinal muscular atrophy with respiratory distress type 1, 32, 132 Sialidosis, 113 Sinus, dermal, 307 Single photon emission tomography, 3 Skull and scalp injuries, caput succedaneum, 106, 284 cephalohematoma, 106, 285[pediatricneuro.com]
  • atrophy Proximal spinal muscular atrophy type 1 Proximal spinal muscular atrophy type 2 Proximal spinal muscular atrophy type 3 Proximal spinal muscular atrophy type 4 Proximal symphalangism Proximal trisomy 16p11.2 Proximal tubulopathy-diabetes mellitus-cerebellar[orpha.net]
  • atrophy (axonal type) (hypertrophic type) Roussy-Levy syndrome Clark's G80.9 ICD-10-CM Diagnosis Code G80.9 Cerebral palsy, unspecified 2016 2017 2018 2019 Billable/Specific Code Applicable To Cerebral palsy NOS colon K56.0 ICD-10-CM Diagnosis Code K56.0[icd10data.com]
Contusion
  • […] particularly vulnerable to closed head trauma when there may be contrecoup of the tectum of the midbrain against the edge of the tentorium.292 In this way, the nucleus or fascicle may be injured within the substance of the midbrain, or the nerve itself may be contused[guwsmedical.info]
  • Midbrain trauma can produce bilateral superior oblique palsy by contusive injury of decussation of nerves. Compression or ischemia at this site also can produce bilateral palsy. See the image below.[emedicine.medscape.com]
Macrocephaly
  • Linear nevus sebaceous, 302 Lipid metabolism disorders, 148 Lissencephaly, 47-49 Listeria monocytogenes, 44 Lowe's syndrome, 111 Lumbar plexus injury, 227 Lumbar puncture, 67-69, 83 Lumbosacral blemish, 307 Lumbosacral plexus, 229 damage, 266 M Top Macrocephaly[pediatricneuro.com]
  • […] duplication/triplication of the short arm of chromosome 5 Partial epilepsy with auditory aura Partial epilepsy with auditory features Partial facial palsy with urinary abnormalities Partial factor I deficiency Partial gigantism-nevi-hemihypertrophy-macrocephaly[orpha.net]
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]
  • 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]
  • (AIIMS Nov 2011) A Ptosis B Diplopia C Outward deviation of eye D Meiosis Ans. D MIOSIS 1. Oculomotor nerve palsy is an eye condition resulting from damage to the third cranial nerve or a branch thereof.[gradestack.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]
Scotoma
  • The presence of a suppression scotoma when assessing diplopia or the presence of fusion also aids in establishing the chronicity of the condition as suppression is usually a childhood adaptation mechanism.[guwsmedical.info]
Red Eye
  • A fixed oval pupil, in association with severe pain, a red eye, a cloudy cornea and systemic malaise, suggests acute angle-closure glaucoma.[patient.info]
Painful Ophthalmoplegia
  • […] with connective tissue disease PAH associated with HIV infaction PAH associated with portal hypertension PAH associated with schistosomiasis PAH deficiency Painful bladder syndrome Painful bruising syndrome Painful congenital myotonia Painful myotonia Painful[orpha.net]
Mild Facial Weakness
  • Currently, three CFEOM phenotypes (mild facial weakness has been reported to occur sometimes in all phenotypes) and four FEOM loci have been defined. a.[yumpu.com]
Broad Nasal Bridge
  • Mild facial hypoplasia of the right side with flattening of the right cheek and a broad nasal bridge was also present [Figure 1]. Visual acuity was 6/9 in both eyes (oculus uterque, OU).[ojoonline.org]
Fear
  • 101 Simple Ways to Attack Your Headache BEFORE the Pain Starts Guaranteed No Pain, No Fear, Full Control Normal Life Again Headaches can stop you from doing all the things you love.[guwsmedical.info]
Nystagmus
  • Right Right amblyopia 0.83 * 1.41 3 B 13 F CFEOM3 Bilateral Bilateral Bilateral Marcus-Gunn jaw-winking 0.98 * 1.05 * 4 C 35 F CFEOM1 Bilateral Bilateral Nystagmus 0.44 * 0.28 * 5 D 15 M CFEOM3 N/A Left Left Nystagmus; bilateral retinal folds; left cataract[iovs.arvojournals.org]
  • Dysmetria Congenital Nystagmus Infantile Nystagmus Syndrome Familial Congenital Nystagmus Horizontal Pendular Nystagmus Horizontal Jerk Nystagmus Fusional Maldevelopment Nystagmus Syndrome Latent Nystagmus - Acquired Vertical Upbeat Primary Position[repository.countway.harvard.edu]
  • Optokinetic nystagmus was assessed in 28 subjects. In all but two subjects with BHGP, horizontal optokinetic nystagmus was absent or substantially reduced.[academic.oup.com]
  • She also had asynchronous blinking, conjugate pendular nystagmus, and high myopia. The patient was the fifth child of first-cousin parents.[cags.org.ae]
  • Nystagmus is another indicator of central ocular motor disturbance in cases of CFEOM. 14. 4. Neuro-imaging Abnormalities such as cerebellar hypoplasia and asymmetrical ventricular size further hint at the possibility of brain malformation.[slideshare.net]
Myelopathy
  • G894Chronic pain syndrome G901Familial dysautonomia [Riley-Day] G92Toxic encephalopathy G930Cerebral cysts G931Anoxic brain damage, not elsewhere classified G937Reye's syndrome G9511Acute infarction of spinal cord (embolic) (nonembolic) G9519Other vascular myelopathies[cms.gov]
  • Radiation-induced myelopathy Type 1 Excludes myelopathy NOS ( G95.9 ) infantile - see Poliomyelitis, paralytic progressive G12.21 ICD-10-CM Diagnosis Code G12.21 Amyotrophic lateral sclerosis 2016 2017 2018 2019 Billable/Specific Code Adult Dx (15-124[icd10data.com]
Papilledema
  • Location/signs Etiologies Nucleus and fascicle Trauma; tumor; demyelination; after Contralateral Horner's syndrome neurosurgery; nuclear aplasia; arteriovenous malformation; hemorrhage; infarction Subarachnoid space Trauma; tumor; increased intracranial Papilledema[guwsmedical.info]
  • […] system organ or structure complicating other procedure G9781Other intraoperative complications of nervous system G9782Other postprocedural complications and disorders of nervous system G992Myelopathy in diseases classified elsewhere H4710Unspecified papilledema[cms.gov]

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]
  • 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]
  • […] 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 onset[neuromuscular.wustl.edu]
  • 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]
  • Fixed and dilated pupils in comatose patients indicate a poor prognosis, especially when present bilaterally. Causes of a unilateral non-reactive pupil Post-traumatic iridocyclitis - eg, direct facial trauma.[patient.info]

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]
Sex distribution
Age distribution

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]

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