Presentation
We present a 65-year-old man with Darier disease with pityriasis amiantacea on the scalp, alopecia, and congenital facial nerve palsy. [ncbi.nlm.nih.gov]
The pathophysiology, presentation, diagnosis, and management of these entities is discussed in detail in a clear, easy to understand format. [books.google.com]
If the patient presents later then a number of other surgical options maybe required. [southernplasticsurgery.com.au]
The deviation of the angle of the mouth to the left side, right-sided microphthalmia, with a small palpabral fissure, and right lateral rectus palsy were present. Bilateral rocker bottom feet were present. [jmgims.co.in]
Patients with facial nerve paralysis resulting from tumours usually present with a progressive, twitching paralysis, other neurological signs, or a recurrent Bell's palsy-type presentation. [en.wikipedia.org]
Entire Body System
- Multiple Congenital Anomalies
The CHARGE association: choanal atresia and multiple congenital anomalies (review). Otolaryngology clinics of North America 1989; 22:661-672 16. Meyerson MD, Lewis E, Fascioscapulohumeral muscular dystrophy and accompanying hearing loss. [jemds.com]
Cardiovascular
- Hypertension
[…] history of renal disease, who was hospitalized because of congenital unilateral facial palsy, which subsequently appeared to be a part of BOR syndrome and led to the diagnosis of congenital bilateral renal hypoplasia, renal failure, and secondary arterial hypertension [link.springer.com]
Diagnosis of Facial Weakness Otitis media Mastoiditis Temporal bone abscess Trauma Iatrogenic surgical injury Intracranial lesions including tumors, AVMs, infarcts Nerve tumors Leukemic invasion of facial nerve, rhabdomyosarcomas Polio in endemic areas Hypertension [pedclerk.bsd.uchicago.edu]
Two-dimensional echocardiography with color Doppler study confirmed a moderate size nonrestrictive perimembranous ventricular septal defect with moderate pulmonary arterial hypertension. [indianjotol.org]
Hypertension and facial palsy in middle aortic syndrome. Arch Dis Child. 2001;85:240-241. 30. Eidlitz-Markus T, Gilai A, Mimouni M, Shuper A. Recurrent facial nerve palsy in pediatric patients. Eur J Pediatr. 2001;160:659-663. 31. [primarypsychiatry.com]
- Heart Disease
Keywords: Absent external ears, Congenital heart disease, Facial paralysis How to cite this article: Patel N, Thanvi R, Prajapati B, Sathvara P. Bilateral anotia, congenital heart disease, and facial paralysis: Unusual triad of pearl syndrome. [indianjotol.org]
Keywords: Congenital heart disease, ear deformity, facial dysmorphism, facial palsy How to cite this article: Taksande A. Möbius syndrome associated with acyanotic congenital heart disease in a neonate. [jmgims.co.in]
CHARGE syndrome This acronym stands for colobomata, heart disease, atresia of choanae, retarded growth, genital hypoplasia, and ear anomalies. Multiple cranial nerves may be involved in this condition. [emedicine.medscape.com]
disease, atresia chonal, retardation of mental and skeletal growth, genital hyoplasia and ear deformities 15. [jemds.com]
[…] paternally derived chromosome Clinical Facial diplegia Ptosis Other cranial nerves involved in some patients: III, VI, VIII Facial deformities: Anteverted nostrils, Malformed and low-set ears Developmental delay: Mild Poland syndrome: 1 patient Congenital heart [neuromuscular.wustl.edu]
Musculoskeletal
- Myopathy
Later in childhood, distal progressive myopathy develops. Intelligence and life span are normal and the spectrum of disability is broad. Flaccid dysarthria results from the facial muscle paralysis. [emedicine.medscape.com]
Zoster (Ramsay Hunt syndrome) Neoplasm & Masses Trauma Cardiofacial syndrome : Lower lip or complete facial palsy Familial CNS lesions Bilateral VII weakness Melkersson syndrome Möbius syndrome Guillain Barré Motor neuron disorders Myasthenia gravis Myopathies [163.178.103.176]
They are as follows: Group I - Simple hypoplasia or atrophy of the cranial nerve nuclei Group II - Primary lesions in the peripheral cranial nerves Group III - Focal necrosis in the brain stem nuclei Group IV - Primary myopathy with no central nervous [jmgims.co.in]
[…] syndrome Möbius syndrome & Congenital facial paresis An-α-lipoproteinemia (Tangier) Infection Leprosy HIV infection : May occur before seroconversion Lyme disease Guillain Barré : Variant Other peripheral causes Motor neuron disorders Myasthenia gravis Myopathies [neuromuscular.wustl.edu]
- Muscle Weakness
This part controls the muscles around the lips. The muscle weakness is mainly noticeable when the infant cries. [medlineplus.gov]
Flaccid dysarthria results from the facial muscle paralysis. [emedicine.medscape.com]
Further workup of facial nerve palsy is dictated by clinical suspicion of the underlying cause of facial weakness. [eyewiki.aao.org]
Eyes
- Lagophthalmos
In this report, a case of a male infant, with the features of hemi facial microsomia, anotia, vertebral anomalies, congenital facial nerve palsy and lagophthalmos is described. [ncbi.nlm.nih.gov]
Average preoperative lagophthalmos was 4.41mm. Average postoperative lagophthalmos was 0.5mm, 1.36mm, 1.57mm, 1.6mm and 1.34mm at 1 day, 1 week, 1 month, 1 year and 2 years respectively. [iovs.arvojournals.org]
Lower eyelid surgery for lagophthalmos in Mobius and Poland-Mobius syndromes. J Craniofac Surg. 2011;22:e53-e54. http://www.ncbi.nlm.nih.gov/pubmed/22134324 Rankin JK, Andrews C, Chan WM, Engle EC. [rarediseases.org]
Lagophthalmos is not just on gentle and forced closure, it is during blink as well and this is something ignored traditionally by doctors when assessing the ability of the eyelids to close. [ramanmalhotra.com]
A first large series of thin-profile platinum eyelid weight implantations has been introduced for the treatment of lagophthalmos. [emedicine.medscape.com]
Ears
- Ear Deformity
Bilateral epicanthus has been reported, as also scattered instances of ear deformities (usually bilateral and confined to the lobe). [jmgims.co.in]
This is a common craniofacial disorder characterized by a wide spectrum of anomalies, including a conductive hearing loss due to external and middle ear deformities. [emedicine.medscape.com]
[…] growth, genital hyoplasia and ear deformities 15. [jemds.com]
Neurologic
- Stroke
Stroke Stroke presents with speech difficulties or any other weakness or numbness anywhere in the body, and you should call 9-1-1 immediately if you notice these symptoms. [uwhealth.org]
Unlike Bell's palsy, the symptoms of a stroke usually come on suddenly. [nhs.uk]
If your child’s facial nerve palsy is related to stroke, she will receive comprehensive care through CHOP’s Pediatric Stroke Program. [chop.edu]
NIH: National Institute of Neurological Disorders and Stroke Bell's palsy (Medical Encyclopedia) [ Read More ] [icdlist.com]
- Dysarthria
Flaccid dysarthria results from the facial muscle paralysis. [emedicine.medscape.com]
Inability to abduct past midline Patterns Bilateral: 90% Abducens nerve palsy, isolated: 9% Conjugate horizontal gaze paresis: 48% Duane retraction syndrome : 34% Congenital fibrosis of extraocular muscles : 9% Bulbar Palate and pharynx dysfunction: 56% Dysarthria [163.178.103.176]
There can be dysarthria to no intelligible speech, mental retardation and epilepsy 17. TREATMENT: The correction of facial asymmetry in congenital facial palsy presents a challenging problem for reconstructive surgeons. [jemds.com]
- Cranial Nerve Involvement
Multiple cranial nerves may be involved in this condition. At least 1 cranial nerve is involved in 75% of cases, and 2 or more cranial nerves are involved in 58% of cases. [emedicine.medscape.com]
nerves & nuclei Hereditary congenital facial paresis 1 (HCPF1; MBS2) ● Chromosome 3q21-q22; Dominant Nosology: MBS2; Isolated congenital facial paresis Clinical Facial weakness Asymmetric Unequal involvement of the 3 branches of the facial nerve No ophthalmoplegia [neuromuscular.wustl.edu]
Special attention must be paid to examining the central nervous system for evidence of brainstem and other cranial nerves involvement (eg, deafness, vertigo, dizziness, vomiting, difficulty swallowing). [primarypsychiatry.com]
- Trigeminal Neuralgia
Trigeminal neuralgia, a condition characterized by pain coming from the trigeminal nerve, which affects the face — most commonly one side of the jaw or cheek. Trigeminal neuroma, rare tumors that may involve any part of the nerves of the face. [hopkinsmedicine.org]
Bell’s Palsy Facial Droop Facial Nerve Damage Facial Nerve Palsy Facial Nerve Paralysis Facial Palsy Facial Twitching Hemifacial Spasm Pseudobulbar Palsy Ramsay Hunt Syndrome Trigeminal Neuralgia Contact The Facial Paralysis Center today to schedule a [newyorkfacialparalysis.com]
- Facial Muscle Weakness
Further workup of facial nerve palsy is dictated by clinical suspicion of the underlying cause of facial weakness. [eyewiki.aao.org]
Workup
Further workup of facial nerve palsy is dictated by clinical suspicion of the underlying cause of facial weakness. [eyewiki.aao.org]
Other Pathologies
- Gliosis
No signs of neuronal degeneration or necrosis with neuronal loss, gliosis, or calcifications were present. There were no other abnormalities of the rhombencephalon and its associated structures. The corticospinal tracts were fully developed. [neurology.org]
Of the five with an abnormality in the nuclear area, two had a complete absence of the facial nucleus (fig 1 ), while three had an abnormal T1/T2 weighting (fig 2 ), indicating gliosis or cyst formation in this area. [adc.bmj.com]
Treatment
Focused on treatment: key points boxes pick out the most important information for the busy specialist. Evidence-based information: extensively referenced with the latest and most important papers and articles. [books.google.com]
congenital; Bell’s palsy; and relapsing from a prior treatment. [medicaldaily.com]
Treatment with prednisolone should begin within 3 days (72 hours) of the symptoms starting. Bell's palsy is rare in children, and most children who are affected make a full recovery without treatment. [nhs.uk]
It’s extremely integral for treatment to be tailored to the patient and their particular disorder. [facialparalysisinstitute.com]
Prognosis
However, in a majority of the cases, the facial nerve palsy resolves on its own, without therapy; although, close clinical monitoring is initially necessary The prognosis of Facial Nerve Palsy due to Birth Trauma is usually excellent with treatment Who [dovemed.com]
The prognosis for good recovery is better in cases when the paresis is only partial. Facial nerve palsy has a broad differential diagnosis. [clinicaladvisor.com]
Prognosis of secondary facial facials depends on the success and management of the primary disease process. [eyewiki.aao.org]
[…] age group, the prognosis for full recovery is excellent in approximately 95% of cases. [primarypsychiatry.com]
Fortunately, it usually begins to resolve within three weeks and the prognosis for complete recovery is excellent. While it is considered an idiopathic condition (unknown cause), recent evidence suggests that it may be viral in nature. [nyee.edu]
Etiology
This loss of control of the facial muscles may be temporary or permanent, depending on the etiology, and may affect the eyes, mouth and other areas of the face. [news-medical.net]
The etiology was undetermined. [ 1 ] COMMENT. This appears to be the first report of familial congenital facial palsy. A partial agenesis of the facial nerve nucleus is considered in etiology. [pediatricneurologybriefs.com]
Typically, the combination of sensory and motor symptoms correlate to intra-cranial CN 7 pathology, while isolated motor symptoms are associated with extra-cranial CN 7 lesions. [1] Etiology There are numerous possible etiologies of facial nerve palsy [eyewiki.aao.org]
Pathology Etiology perinatal trauma intrauterine posture intrapartum compression familial and congenital aplasia of the facial nerve nucleus cardiofacial syndrome Mobius syndrome (bilateral) Poland syndrome (only occasionally associated with CFP) Goldenhar [radiopaedia.org]
Subclavian artery supply disruption sequence: Hypothesis of vascular etiology for Poland, Klippel Feil and Möbius anomalies. Am J Med Genet 1986;23:903-18. [ PUBMED ] 7. Caravella L, Rogers GL. [jmgims.co.in]
Epidemiology
Epidemiology CFP are reported with an incidence of ~0.2% of live births, making it a rare cause of facial palsy. [radiopaedia.org]
[…] 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 In 2007, the Moebius Syndrome Foundation estimated that there were at the time a total of approximately 2,000 cases of Moebius Syndrome worldwide [6]. [physio-pedia.com]
[…] droop Loss of forehead &d nasolabial folds Drooping of corner of mouth Uncontrolled tearing Inability to close eye Lips cannot be held tightly together: Diificulty keeping food in mouth Facial muscle atrophy (Late) Facial Paresis: Left Bell's Palsy 8 Epidemiology [163.178.103.176]
Epidemiology and Risk Factors The overall prevalence of facial nerve palsy has been estimated at 2-3 cases per 10 000 people in the general population. [5] Facial nerve palsy affects individuals regardless of sex, age, or race. [eyewiki.aao.org]
Pathophysiology
The pathophysiology, presentation, diagnosis, and management of these entities is discussed in detail in a clear, easy to understand format. [books.google.com]
Pathophysiology of Bell’s Palsy Many patients with Bell’s palsy have been found to have rising antibody titers to herpes simplex virus. 31 Different pathophysiological processes have been suggested, 31 including active viral invasion or immune processes [primarypsychiatry.com]
Pathophysiology Main cause of Bell's palsy is latent herpes viruses (herpes simplex virus type 1 and herpes zoster virus), which are reactivated from cranial nerve ganglia Edema of nerve within inelastic fallopian canal Recovery begins by 3 weeks [slideshare.net]
Prevention
The goals of surgery include protecting the eye, preventing drooling and re-establishing facial symmetry both in motion and at rest. [myplasticsurgery.gr]
You can't prevent Bell's palsy Because it's probably caused by an infection, Bell's palsy can't be prevented. It may be linked to the herpes virus. You'll usually only get Bell's palsy once, but it can sometimes come back. [nhs.uk]