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Cranial nerve paralysis

MedGen UID:
57717
Concept ID:
C0151311
Disease or Syndrome
Synonym: Cranial nerve palsy
SNOMED CT: Cranial nerve palsy (73013002)
 
HPO: HP:0006824
Monarch Initiative: MONDO:0002782

Definition

Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness. [from NCI]

Conditions with this feature

Chédiak-Higashi syndrome
MedGen UID:
3347
Concept ID:
C0007965
Disease or Syndrome
Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism, immunodeficiency, and a mild bleeding tendency. Approximately 85% of affected individuals develop the accelerated phase, or hemophagocytic lymphohistiocytosis, a life-threatening, hyperinflammatory condition. All affected individuals including adolescents and adults with atypical CHS and children with classic CHS who have successfully undergone allogenic hematopoietic stem cell transplantation (HSCT) develop neurologic findings during early adulthood.
Dandy-Walker syndrome
MedGen UID:
4150
Concept ID:
C0010964
Disease or Syndrome
Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have mental retardation and some have hydrocephalus. DWM is a heterogeneous disorder. The low empiric recurrence risk of approximately 1 to 2% for nonsyndromic DWM suggests that mendelian inheritance is unlikely (summary by Murray et al., 1985).
Roberts-SC phocomelia syndrome
MedGen UID:
95931
Concept ID:
C0392475
Disease or Syndrome
ESCO2 spectrum disorder is characterized by mild-to-severe prenatal growth restriction, limb malformations (which can include bilateral symmetric tetraphocomelia or hypomelia caused by mesomelic shortening), hand anomalies (including oligodactyly, thumb aplasia or hypoplasia, and syndactyly), elbow and knee flexion contractures (involving elbows, wrists, knees, ankles, and feet [talipes equinovarus]), and craniofacial abnormalities (which can include bilateral cleft lip and/or cleft palate, micrognathia, widely spaced eyes, exophthalmos, downslanted palpebral fissures, malar flattening, and underdeveloped ala nasi), ear malformation, and corneal opacities. Intellectual disability (ranging from mild to severe) is common. Early mortality is common among severely affected pregnancies and newborns; mildly affected individuals may survive to adulthood.
Hyperphosphatasemia tarda
MedGen UID:
98484
Concept ID:
C0432272
Disease or Syndrome
SOST-related sclerosing bone dysplasias include sclerosteosis and van Buchem disease, both disorders of progressive bone overgrowth due to increased bone formation. The major clinical features of sclerosteosis are progressive skeletal overgrowth, most pronounced in the skull and mandible, and variable syndactyly, usually of the second (index) and third (middle) fingers. Affected individuals appear normal at birth except for syndactyly. Facial distortion due to bossing of the forehead and mandibular overgrowth is seen in nearly all individuals and becomes apparent in early childhood with progression into adulthood. Hyperostosis of the skull results in narrowing of the foramina, causing entrapment of the seventh cranial nerve (leading to facial palsy) with other, less common nerve entrapment syndromes including visual loss (2nd cranial nerve), neuralgia or anosmia (5th cranial nerve), and sensory hearing loss (8th cranial nerve). In sclerosteosis, hyperostosis of the calvarium reduces intracranial volume, increasing the risk for potentially lethal elevation of intracranial pressure. Survival of individuals with sclerosteosis into old age is unusual, but not unprecedented. The manifestations of van Buchem disease are generally milder than sclerosteosis and syndactyly is absent; life span appears to be normal.
Neurocutaneous melanocytosis
MedGen UID:
154259
Concept ID:
C0544862
Congenital Abnormality
Neurocutaneous melanosis, or neuromelanosis, is characterized by the presence of melanin-producing cells within the brain parenchyma or leptomeninges, which may lead to clinically apparent neurologic signs and symptoms, such as seizures. Other neurologic abnormalities, including hydrocephalus, arachnoid cysts, tumors, and syringomyelia, may also occur. The disorder is a rare but severe manifestation of congenital melanocytic nevus syndrome (CMNS; 137550). Some patients with neurocutaneous melanosis or CMNS may develop malignant melanoma. The incidence of neurologic involvement, development of malignant melanoma, and death is significantly associated with the projected adult size of the largest congenital melanocytic nevus, particularly those greater than 40 cm (summary by Kinsler et al., 2008; Kinsler et al., 2013).
Brown-Vialetto-van Laere syndrome 1
MedGen UID:
163239
Concept ID:
C0796274
Disease or Syndrome
Brown-Vialetto-Van Laere syndrome is a rare autosomal recessive neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth (more rarely the third, fifth, and sixth) cranial nerves. Spinal motor nerves and, less commonly, upper motor neurons are sometimes affected, giving a picture resembling amyotrophic lateral sclerosis (ALS; 105400). The onset of the disease is usually in the second decade, but earlier and later onset have been reported. Hearing loss tends to precede the onset of neurologic signs, mostly progressive muscle weakness causing respiratory compromise. However, patients with very early onset may present with bulbar palsy and may not develop hearing loss until later. The symptoms, severity, and disease duration are variable (summary by Green et al., 2010). Genetic Heterogeneity of Brown-Vialetto-Van Laere Syndrome See also BVVLS2 (614707), caused by mutation in the SLC52A2 gene (607882) on chromosome 8q.
Autosomal recessive osteopetrosis 1
MedGen UID:
376708
Concept ID:
C1850127
Disease or Syndrome
Osteopetrosis (OPT) is a life-threatening disease caused by subnormal osteoclast function, with an incidence of 1 in 250,000 births. The disease usually manifests in the first few months of life with macrocephaly and frontal bossing, resulting in a characteristic facial appearance. Defective bone remodeling of the skull results in choanal stenosis with concomitant respiratory problems and feeding difficulties, which are the first clinical manifestation of disease. The expanding bone encroaches on neural foramina, leading to blindness, deafness, and facial palsy. Complete visual loss invariably occurs in all untreated patients, and hearing loss is estimated to affect 78% of patients with OPT. Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. The most severe complication of OPT, limiting survival, is bone marrow insufficiency. The abnormal expansion of cortical and trabecular bone physically limits the availability of medullary space for hematopoietic activity, leading to life-threatening cytopenia and secondary expansion of extramedullary hematopoiesis at sites such as the liver and spleen (summary by Aker et al., 2012). Genetic Heterogeneity of Autosomal Recessive Osteopetrosis Other forms of autosomal recessive infantile malignant osteopetrosis include OPTB4 (611490), which is caused by mutation in the CLCN7 gene (602727) on chromosome 16p13, and OPTB5 (259720), which is caused by mutation in the OSTM1 gene (607649) on chromosome 6q21. A milder, osteoclast-poor form of autosomal recessive osteopetrosis (OPTB2; 259710) is caused by mutation in the TNFSF11 gene (602642) on chromosome 13q14, an intermediate form (OPTB6; 611497) is caused by mutation in the PLEKHM1 gene (611466) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia (OPTB7; 612301) is caused by mutation in the TNFRSF11A gene (603499) on chromosome 18q22. Another form of autosomal recessive osteopetrosis (OPTB8; 615085) is caused by mutation in the SNX10 gene (614780) on chromosome 7p15. A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3; 259730) is caused by mutation in the CA2 gene (611492) on chromosome 8q21. OPTB9 (620366) is caused by mutation in the SLC4A2 gene (109280) on chromosome 7q36. Autosomal dominant forms of osteopetrosis are more benign (see OPTA1, 607634).
Paragangliomas 3
MedGen UID:
340200
Concept ID:
C1854336
Disease or Syndrome
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck PGL [HNPGL]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCC result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas.
Absence deformity of leg-cataract syndrome
MedGen UID:
343374
Concept ID:
C1855523
Disease or Syndrome
A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968.
Dandy-Walker malformation-postaxial polydactyly syndrome
MedGen UID:
341751
Concept ID:
C1857351
Disease or Syndrome
A syndromic disorder with the association between Dandy-Walker malformation and postaxial polydactyly as a major feature. The Dandy-Walker malformation has a variable expression and characteristics of a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.
Paragangliomas 4
MedGen UID:
349380
Concept ID:
C1861848
Neoplastic Process
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck PGL [HNPGL]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCC result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas.
Paragangliomas 2
MedGen UID:
357076
Concept ID:
C1866552
Disease or Syndrome
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck PGL [HNPGL]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCC result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas.
Hunter-Macdonald syndrome
MedGen UID:
383181
Concept ID:
C2677745
Disease or Syndrome
Paragangliomas 1
MedGen UID:
488134
Concept ID:
C3494181
Neoplastic Process
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck PGL [HNPGL]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCC result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas.
Brown-Vialetto-van Laere syndrome 2
MedGen UID:
766452
Concept ID:
C3553538
Disease or Syndrome
Brown-Vialetto-Van Laere syndrome-2 (BVVLS2) is an autosomal recessive progressive neurologic disorder characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency. Some patients may lose independent ambulation. Because it results from a defect in riboflavin metabolism, some patients may benefit from high-dose riboflavin supplementation (summary by Johnson et al., 2012; Foley et al., 2014). For discussion of genetic heterogeneity of Brown-Vialetto-Van Laere syndrome, see BVVLS1 (211530).
Paget disease of bone 2, early-onset
MedGen UID:
899166
Concept ID:
C4085251
Disease or Syndrome
Paget disease is a metabolic bone disease characterized by focal abnormalities of increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Bone lesions in this disorder show evidence of increased osteoclastic bone resorption and disorganized bone structure. See reviews by Ralston et al. (2008) and Ralston and Albagha (2014). For a discussion of genetic heterogeneity of Paget disease of bone, see 167250.

Professional guidelines

PubMed

Ozawa H
Auris Nasus Larynx 2024 Jun;51(3):501-506. Epub 2024 Mar 23 doi: 10.1016/j.anl.2024.01.007. PMID: 38522353
Arslan IB, Pekcevik Y, Cukurova I
Eur Arch Otorhinolaryngol 2023 Jun;280(6):2755-2761. Epub 2022 Dec 18 doi: 10.1007/s00405-022-07784-y. PMID: 36528642Free PMC Article
Lower EE, Broderick JP, Brott TG, Baughman RP
Arch Intern Med 1997 Sep 8;157(16):1864-8. PMID: 9290546

Recent clinical studies

Etiology

Ozawa H
Auris Nasus Larynx 2024 Jun;51(3):501-506. Epub 2024 Mar 23 doi: 10.1016/j.anl.2024.01.007. PMID: 38522353
Rajangam J, Lakshmanan AP, Rao KU, Jayashree D, Radhakrishnan R, Roshitha B, Sivanandy P, Sravani MJ, Pravalika KH
CNS Neurol Disord Drug Targets 2024;23(2):203-214. doi: 10.2174/1871527322666230321120618. PMID: 36959147
Valero C, Ganly I
J Oral Pathol Med 2022 Nov;51(10):897-903. Epub 2022 Feb 23 doi: 10.1111/jop.13286. PMID: 35178777
Wang HW, Lu CC, Chao PZ, Lee FP
Ear Nose Throat J 2022 Aug;101(7):NP294-NP298. Epub 2020 Oct 22 doi: 10.1177/0145561320965212. PMID: 33090900
Ulu S, Ulu SM, Oz G, Kaçar E, Yücedağ F, Ayçiçek A
J Craniofac Surg 2012 Nov;23(6):1812-4. doi: 10.1097/SCS.0b013e318271024e. PMID: 23147345

Diagnosis

Rajangam J, Lakshmanan AP, Rao KU, Jayashree D, Radhakrishnan R, Roshitha B, Sivanandy P, Sravani MJ, Pravalika KH
CNS Neurol Disord Drug Targets 2024;23(2):203-214. doi: 10.2174/1871527322666230321120618. PMID: 36959147
Valero C, Ganly I
J Oral Pathol Med 2022 Nov;51(10):897-903. Epub 2022 Feb 23 doi: 10.1111/jop.13286. PMID: 35178777
George E, Richie MB, Glastonbury CM
Am J Med 2020 Sep;133(9):1039-1044. Epub 2020 May 20 doi: 10.1016/j.amjmed.2020.04.023. PMID: 32445717
Patel VA, Zacharia TT, Goldenberg D, McGinn JD
Clin Imaging 2017 Jul-Aug;44:5-11. Epub 2017 Mar 23 doi: 10.1016/j.clinimag.2017.03.014. PMID: 28364580
Ulu S, Ulu SM, Oz G, Kaçar E, Yücedağ F, Ayçiçek A
J Craniofac Surg 2012 Nov;23(6):1812-4. doi: 10.1097/SCS.0b013e318271024e. PMID: 23147345

Therapy

Rajangam J, Lakshmanan AP, Rao KU, Jayashree D, Radhakrishnan R, Roshitha B, Sivanandy P, Sravani MJ, Pravalika KH
CNS Neurol Disord Drug Targets 2024;23(2):203-214. doi: 10.2174/1871527322666230321120618. PMID: 36959147
Avci İ, Gürsoy T, Paksoy K, Şentürk S, Yaman O, Özer AF
Asian J Endosc Surg 2023 Jul;16(3):514-517. Epub 2022 Dec 29 doi: 10.1111/ases.13157. PMID: 36582116
Wang HW, Lu CC, Chao PZ, Lee FP
Ear Nose Throat J 2022 Aug;101(7):NP294-NP298. Epub 2020 Oct 22 doi: 10.1177/0145561320965212. PMID: 33090900
Arslan A, Ozsoy KM, Olguner SK, Acik V, Istemen I, Arslan B, Gezercan Y, Okten AI
Turk Neurosurg 2020;30(5):768-775. doi: 10.5137/1019-5149.JTN.31207-20.2. PMID: 32865224
Pistoia F, Sacco S, Sarà M, Franceschini M, Carolei A
Curr Pain Headache Rep 2015 Jan;19(1):466. doi: 10.1007/s11916-014-0466-8. PMID: 25416459

Prognosis

Ozawa H
Auris Nasus Larynx 2024 Jun;51(3):501-506. Epub 2024 Mar 23 doi: 10.1016/j.anl.2024.01.007. PMID: 38522353
Arslan A, Ozsoy KM, Olguner SK, Acik V, Istemen I, Arslan B, Gezercan Y, Okten AI
Turk Neurosurg 2020;30(5):768-775. doi: 10.5137/1019-5149.JTN.31207-20.2. PMID: 32865224
Liu M, Liu S, Liu B, Liu B, Guo L, Wang X, Wang Q, Yang S, Dong L
Medicine (Baltimore) 2016 Jan;95(4):e2632. doi: 10.1097/MD.0000000000002632. PMID: 26825921Free PMC Article
Ulu S, Ulu SM, Oz G, Kaçar E, Yücedağ F, Ayçiçek A
J Craniofac Surg 2012 Nov;23(6):1812-4. doi: 10.1097/SCS.0b013e318271024e. PMID: 23147345
Harwick RD, Miller AS
Am J Surg 1979 Oct;138(4):512-6. doi: 10.1016/0002-9610(79)90410-0. PMID: 114069

Clinical prediction guides

Ozawa H
Auris Nasus Larynx 2024 Jun;51(3):501-506. Epub 2024 Mar 23 doi: 10.1016/j.anl.2024.01.007. PMID: 38522353
Avci İ, Gürsoy T, Paksoy K, Şentürk S, Yaman O, Özer AF
Asian J Endosc Surg 2023 Jul;16(3):514-517. Epub 2022 Dec 29 doi: 10.1111/ases.13157. PMID: 36582116
Arslan IB, Pekcevik Y, Cukurova I
Eur Arch Otorhinolaryngol 2023 Jun;280(6):2755-2761. Epub 2022 Dec 18 doi: 10.1007/s00405-022-07784-y. PMID: 36528642Free PMC Article
Valero C, Ganly I
J Oral Pathol Med 2022 Nov;51(10):897-903. Epub 2022 Feb 23 doi: 10.1111/jop.13286. PMID: 35178777
Maurin O, de Régloix S, Dubourdieu S, Lefort H, Boizat S, Houze B, Culoma J, Burlaton G, Tourtier JP
Prehosp Disaster Med 2015 Jun;30(3):316-9. Epub 2015 Apr 14 doi: 10.1017/S1049023X1500463X. PMID: 25868553

Recent systematic reviews

Lachenal F, Cotton F, Desmurs-Clavel H, Haroche J, Taillia H, Magy N, Hamidou M, Salvatierra J, Piette JC, Vital-Durand D, Rousset H
J Neurol 2006 Oct;253(10):1267-77. Epub 2006 Oct 24 doi: 10.1007/s00415-006-0160-9. PMID: 17063320

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