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Deafness, sensorineural, with peripheral neuropathy and arterial disease

MedGen UID:: 343766
•Concept ID:: C1852280
•: Disease or Syndrome

Synonym:	Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease

Monarch Initiative:	MONDO:0007425
OMIM®:	124950

Clinical features

From HPO

Retinal arteriolar constriction

MedGen UID:: 853673
•Concept ID:: C2176208
•: Finding

Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina.

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Peripheral arterial stenosis

MedGen UID:: 870815
•Concept ID:: C4025272
•: Disease or Syndrome

Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication.

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Bilateral sensorineural hearing impairment

MedGen UID:: 96788
•Concept ID:: C0452138
•: Disease or Syndrome

A bilateral form of sensorineural hearing impairment.

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Progressive hearing impairment

MedGen UID:: 331224
•Concept ID:: C1842138
•: Finding

A progressive form of hearing impairment.

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Headache

MedGen UID:: 9149
•Concept ID:: C0018681
•: Sign or Symptom

Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.

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Polyneuropathy

MedGen UID:: 57502
•Concept ID:: C0152025
•: Disease or Syndrome

A generalized disorder of peripheral nerves.

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Increased CSF protein concentration

MedGen UID:: 329971
•Concept ID:: C1806780
•: Finding

Increased concentration of protein in the cerebrospinal fluid.

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Skin rash

MedGen UID:: 1830322
•Concept ID:: C5779628
•: Sign or Symptom

A red eruption of the skin.

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Concave nasal ridge

MedGen UID:: 78105
•Concept ID:: C0264169
•: Finding

Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip.

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Papilledema

MedGen UID:: 10565
•Concept ID:: C0030353
•: Finding

Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.

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Abnormality of head or neck
- Concave nasal ridge
Abnormality of the cardiovascular system
- Peripheral arterial stenosis
- Retinal arteriolar constriction
Abnormality of the eye
- Papilledema
Abnormality of the immune system
- Skin rash
Abnormality of the nervous system
Ear malformation
- Bilateral sensorineural hearing impairment
- Progressive hearing impairment

Recent clinical studies

Etiology

Neurological impact of eosinophilic granulomatosis with polyangiitis.

Gomes I, Girão A, Gomes J, Rebelo O, Jesus-Ribeiro J
Acta Neurol Belg 2022 Feb;122(1):123-128. Epub 2021 Apr 27 doi: 10.1007/s13760-021-01683-5. PMID: 33905106

Pain-free survival after vagoglossopharyngeal complex sectioning with or without microvascular decompression in glossopharyngeal neuralgia.

Teton ZE, Holste KG, Hardaway FA, Burchiel KJ, Raslan AM
J Neurosurg 2019 Jan 11;132(1):232-238. doi: 10.3171/2018.8.JNS18239. PMID: 30641844

Neurologic manifestations of inflammatory bowel diseases.

Ferro JM, Oliveira SN, Correia L
Handb Clin Neurol 2014;120:595-605. doi: 10.1016/B978-0-7020-4087-0.00040-1. PMID: 24365340

Coronary artery disease in Alström syndrome.

Jatti K, Paisey R, More R
Eur J Hum Genet 2012 Jan;20(1):117-8. Epub 2011 Sep 7 doi: 10.1038/ejhg.2011.168. PMID: 21897446 Free PMC Article

Is there a correlation between vascular loops and unilateral auditory symptoms?

Makins AE, Nikolopoulos TP, Ludman C, O'Donoghue GM
Laryngoscope 1998 Nov;108(11 Pt 1):1739-42. doi: 10.1097/00005537-199811000-00027. PMID: 9818836

See all (8)

Diagnosis

Neurological impact of eosinophilic granulomatosis with polyangiitis.

Gomes I, Girão A, Gomes J, Rebelo O, Jesus-Ribeiro J
Acta Neurol Belg 2022 Feb;122(1):123-128. Epub 2021 Apr 27 doi: 10.1007/s13760-021-01683-5. PMID: 33905106

Diabetes mellitus in an adolescent girl with intellectual disability caused by novel single base pair duplication in the PTRH2 gene: Expanding the clinical spectrum of IMNEPD.

Parida P, Dubbudu A, Biswal SR, Sharawat IK, Panda PK
Brain Dev 2021 Feb;43(2):314-319. Epub 2020 Oct 20 doi: 10.1016/j.braindev.2020.09.009. PMID: 33092935

Combined peripheral and central vestibulopathy.

Choi SY, Kee HJ, Park JH, Kim HJ, Kim JS
J Vestib Res 2014;24(5-6):443-51. doi: 10.3233/VES-140524. PMID: 25564087

Neurologic manifestations of inflammatory bowel diseases.

Ferro JM, Oliveira SN, Correia L
Handb Clin Neurol 2014;120:595-605. doi: 10.1016/B978-0-7020-4087-0.00040-1. PMID: 24365340

Cauda equina involvement in Susac's syndrome.

Allmendinger AM, Mallery RM, Magro CM, Wang N, Egan RA, Samuels MA, Callahan A, Viswanadhan N, Klufas RA, Hsu L, Prasad S
J Neurol Sci 2014 Feb 15;337(1-2):91-6. Epub 2013 Nov 22 doi: 10.1016/j.jns.2013.11.023. PMID: 24290499

See all (13)

Therapy

Diabetes mellitus in an adolescent girl with intellectual disability caused by novel single base pair duplication in the PTRH2 gene: Expanding the clinical spectrum of IMNEPD.

Parida P, Dubbudu A, Biswal SR, Sharawat IK, Panda PK
Brain Dev 2021 Feb;43(2):314-319. Epub 2020 Oct 20 doi: 10.1016/j.braindev.2020.09.009. PMID: 33092935

Pain-free survival after vagoglossopharyngeal complex sectioning with or without microvascular decompression in glossopharyngeal neuralgia.

Teton ZE, Holste KG, Hardaway FA, Burchiel KJ, Raslan AM
J Neurosurg 2019 Jan 11;132(1):232-238. doi: 10.3171/2018.8.JNS18239. PMID: 30641844

Superficial siderosis of the central nervous system following cervical nerve root avulsion: the importance of early diagnosis and surgery.

Aquilina K, Kumar R, Lu J, Rawluk D
Acta Neurochir (Wien) 2005 Mar;147(3):291-7; discussion 297. doi: 10.1007/s00701-004-0460-8. PMID: 15662570

Neurological manifestations of antiphospholipid antibody syndrome.

Brey RL, Escalante A
Lupus 1998;7 Suppl 2:S67-74. doi: 10.1177/096120339800700216. PMID: 9814677

See all (4)

Prognosis

Microvascular Decompression and Transposition of the 8th Cranial Nerve Using a Fenestrated Clip.

Turcotte EL, Patra DP, Abi-Aad KR, Welz ME, Weisskopf PA, Bendok BR
World Neurosurg 2020 Mar;135:233. Epub 2019 Dec 16 doi: 10.1016/j.wneu.2019.12.046. PMID: 31857267

Is microvascular compression of the vestibulocochlear nerve a cause of unilateral hearing loss?

van der Steenstraten F, de Ru JA, Witkamp TD
Ann Otol Rhinol Laryngol 2007 Apr;116(4):248-52. doi: 10.1177/000348940711600404. PMID: 17491521

Intracranial vertebral artery dissection mimicking acute peripheral vertigo.

Horii A, Okumura K, Kitahara T, Kubo T
Acta Otolaryngol 2006 Feb;126(2):170-3. doi: 10.1080/00016480500279977. PMID: 16428195

See all (3)

Clinical prediction guides

Neurological impact of eosinophilic granulomatosis with polyangiitis.

Gomes I, Girão A, Gomes J, Rebelo O, Jesus-Ribeiro J
Acta Neurol Belg 2022 Feb;122(1):123-128. Epub 2021 Apr 27 doi: 10.1007/s13760-021-01683-5. PMID: 33905106

Microvascular Decompression and Transposition of the 8th Cranial Nerve Using a Fenestrated Clip.

Turcotte EL, Patra DP, Abi-Aad KR, Welz ME, Weisskopf PA, Bendok BR
World Neurosurg 2020 Mar;135:233. Epub 2019 Dec 16 doi: 10.1016/j.wneu.2019.12.046. PMID: 31857267

Radiographic analysis of cochlear nerve vascular compression.

Clift JM, Wong RD, Carney GM, Stavinoha RC, Boyev KP
Ann Otol Rhinol Laryngol 2009 May;118(5):356-61. doi: 10.1177/000348940911800507. PMID: 19548385

Vascular loops causing otological symptoms: a systematic review and meta-analysis.

Chadha NK, Weiner GM
Clin Otolaryngol 2008 Feb;33(1):5-11. doi: 10.1111/j.1749-4486.2007.01597.x. PMID: 18302544

Intracranial vertebral artery dissection mimicking acute peripheral vertigo.

Horii A, Okumura K, Kitahara T, Kubo T
Acta Otolaryngol 2006 Feb;126(2):170-3. doi: 10.1080/00016480500279977. PMID: 16428195

See all (6)