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Necrotizing encephalomyelopathy, subacute, of Leigh, adult

MedGen UID:
331718
Concept ID:
C1834340
Disease or Syndrome
Synonym: LEIGH SYNDROME, ADULT
 
Monarch Initiative: MONDO:0008069
OMIM®: 161700

Disease characteristics

Mitochondrial DNA (mtDNA)-associated Leigh syndrome and NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) are part of a continuum of progressive neurodegenerative disorders caused by abnormalities of mitochondrial energy generation. Leigh syndrome (or subacute necrotizing encephalomyelopathy) is characterized by onset of symptoms typically between ages three and 12 months, often following a viral infection. Decompensation (often with elevated lactate levels in blood and/or CSF) during an intercurrent illness is typically associated with psychomotor retardation or regression. Neurologic features include hypotonia, spasticity, movement disorders (including chorea), cerebellar ataxia, and peripheral neuropathy. Extraneurologic manifestations may include hypertrophic cardiomyopathy. About 50% of affected individuals die by age three years, most often as a result of respiratory or cardiac failure. NARP is characterized by proximal neurogenic muscle weakness with sensory neuropathy, ataxia, and pigmentary retinopathy. Onset of symptoms, particularly ataxia and learning difficulties, is often in early childhood. Individuals with NARP can be relatively stable for many years, but may suffer episodic deterioration, often in association with viral illnesses. [from GeneReviews]
Authors:
David R Thorburn  |  Joyeeta Rahman  |  Shamima Rahman   view full author information

Clinical features

From HPO
Arthralgia
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Bone pain
MedGen UID:
57489
Concept ID:
C0151825
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.
Clubbing
MedGen UID:
57692
Concept ID:
C0149651
Anatomical Abnormality
Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.
Acroosteolysis
MedGen UID:
183017
Concept ID:
C0917990
Disease or Syndrome
Dissolution or degeneration of bone tissue of the phalanges of the hand.
Foot acroosteolysis
MedGen UID:
871259
Concept ID:
C4025744
Pathologic Function
Abnormality of the cardiovascular system
MedGen UID:
116727
Concept ID:
C0243050
Congenital Abnormality
Any abnormality of the cardiovascular system.
Gastric ulcer
MedGen UID:
21330
Concept ID:
C0038358
Disease or Syndrome
An ulcer, that is, an erosion of an area of the gastric mucous membrane.
Gastric hypertrophy
MedGen UID:
371801
Concept ID:
C1834341
Finding
Hypertrophy of the stomach.
Arthritis
MedGen UID:
2043
Concept ID:
C0003864
Disease or Syndrome
Inflammation of a joint.
Periosteal thickening of long tubular bones
MedGen UID:
322394
Concept ID:
C1834345
Finding
Thickening of the periosteum of long bone.
Metacarpal periosteal thickening
MedGen UID:
322396
Concept ID:
C1834347
Finding
Proximal phalangeal periosteal thickening
MedGen UID:
322397
Concept ID:
C1834348
Finding
Metatarsal periosteal thickening
MedGen UID:
331721
Concept ID:
C1834349
Finding
Coarse facial features
MedGen UID:
335284
Concept ID:
C1845847
Finding
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Hyperhidrosis
MedGen UID:
5690
Concept ID:
C0020458
Finding
Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.
Cutis gyrata of scalp
MedGen UID:
78095
Concept ID:
C0263417
Disease or Syndrome
The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction.
Onychogryposis
MedGen UID:
82671
Concept ID:
C0263537
Disease or Syndrome
Nail that appears thick when viewed on end.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Gerards M, Sallevelt SC, Smeets HJ
Mol Genet Metab 2016 Mar;117(3):300-12. Epub 2015 Dec 19 doi: 10.1016/j.ymgme.2015.12.004. PMID: 26725255

Recent clinical studies

Diagnosis

Ohyama-Tamagake A, Kaneko K, Itami R, Nakano M, Namioka Y, Izumi R, Sato H, Suzuki H, Takeda A, Okazaki Y, Yatsuka Y, Abe T, Murayama K, Sugeno N, Misu T, Aoki M
Intern Med 2023 Jul 1;62(13):1995-1998. Epub 2022 Dec 21 doi: 10.2169/internalmedicine.0773-22. PMID: 36543208Free PMC Article
Oh EH, Chae SH, Cho JW, Baik SK, Choi SY, Choi KD, Choi JH
Neurology 2017 Oct 17;89(16):1754. doi: 10.1212/WNL.0000000000004528. PMID: 29038134
Gerards M, Sallevelt SC, Smeets HJ
Mol Genet Metab 2016 Mar;117(3):300-12. Epub 2015 Dec 19 doi: 10.1016/j.ymgme.2015.12.004. PMID: 26725255
Han JY, Sung JJ, Park HK, Yoon BN, Lee KW
J Clin Neurosci 2014 Nov;21(11):2009-11. Epub 2014 Jun 21 doi: 10.1016/j.jocn.2014.03.020. PMID: 24961732

Prognosis

Edwards LS, Halmagyi GM, Mallawaarachchi A, Thompson EO, Kiernan MC
Pract Neurol 2020 Aug;20(4):336-337. Epub 2020 Jul 17 doi: 10.1136/practneurol-2019-002409. PMID: 32680832
Gerards M, Sallevelt SC, Smeets HJ
Mol Genet Metab 2016 Mar;117(3):300-12. Epub 2015 Dec 19 doi: 10.1016/j.ymgme.2015.12.004. PMID: 26725255

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