Klinische FragestellungLeigh-Syndrom, Differentialdiagnose

NGS +

[[Sanger]]

Spezifische neuropathologische Merkmale mit gemeinsamer Beteiligung von Hirnstamm- und Basalganglienläsionen

• Alias: Leigh syndrome due to mitochondrial complex I-V deficiency
• Allelic: Bjornstad syndrome (BCS1L)
• Allelic: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 (COX15)
• Allelic: Cardiomyopathy, dilated, 1GG (SDHA)
• Allelic: Cataract 38, AR (AGK)
• Allelic: Charcot-Marie-Tooth disease, axonal, type 2EE (MPV14)
• Allelic: Charcot-Marie-Tooth disease, axonal, types 2A2A + 2A2B (MFN2)
• Allelic: Charcot-Marie-Tooth disease, type 4K (SURF1)
• Allelic: Deafness, AR 70 (PNPT1)
• Allelic: Deafness, AR 94 (NARS2)
• Allelic: Deafness, AR 94 (NDUFA4)
• Allelic: Deafness, mitochondrial, modifier of (TRMU)
• Allelic: Fanconi renotubular syndrome 5 (NDUFAF2, NDUFAF6)
• Allelic: GRACILE syndrome (BCS1L)
• Allelic: Glaucoma, normal tension, susceptibility to (OPA1)
• Allelic: Hereditary motor + sensory neuropathy VIA (MFN2)
• Allelic: Leukoencephalopathy, progressive, with ovarian failure (AARS2)
• Allelic: Liver failure, transient infantile (TRMU)
• Allelic: Microcephaly, Amish type (SLC25A19)
• Allelic: Multiple system atrophy, susceptibility to (COQ2)
• Allelic: Myopia 6 (SCO2)
• Allelic: Neuropathy, hereditary motor + sensory, type VIB (SLC25A46)
• Allelic: Optic atrophy 1 (OPA1)
• Allelic: Optic atrophy 12 (AFG3L2)
• Allelic: Optic atrophy plus syndrome (OPA1)
• Allelic: Paragangliomas 5 (SDHA)
• Allelic: Perrault syndrome 5 (TWNK)
• Allelic: Portal hypertension, noncirrhotic, 1 (DGUOK)
• Allelic: Seckel syndrome 8 (DNA2)
• Allelic: Spastic ataxia 5, AR (AFG3L2)
• Allelic: Spinocerebellar ataxia 28 (AFG3L2)
• 3-hydroxyisobutryl-CoA hydrolase deficiency (HIBCH)
• 3-methylglutaconic aciduria with deafness, encephalopathy + Leigh-like syndrome (SERAC1)
• 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement + neutropenia (CLPB)
• Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (APTX)
• Behr syndrome (OPA1)
• Biotinidase deficiency (BTD)
• Cataracts/growth hormone deficiency/sensory neuropathy/sensorineur. hear loss/skel. dyspl. (IARS2)
• Coenzyme Q10 deficiency, primary, 1 (COQ2)
• Coenzyme Q10 deficiency, primary, 2 (PDSS1)
• Coenzyme Q10 deficiency, primary, 3 (PDSS2)
• Coenzyme Q10 deficiency, primary, 4 (COQ8A)
• Coenzyme Q10 deficiency, primary, 5 (COQ9)
• Coenzyme Q10 deficiency, primary, 6 (COQ6)
• Coenzyme Q10 deficiency, primary, 7 (COQ4)
• Combined oxidative phosphorylation deficiency 1 (GFM1)
• Combined oxidative phosphorylation deficiency 12 (EARS2)
• Combined oxidative phosphorylation deficiency 13 (PNPT1)
• Combined oxidative phosphorylation deficiency 14 (FARS2)
• Combined oxidative phosphorylation deficiency 15 (MTFMT)
• Combined oxidative phosphorylation deficiency 23 (GTPBT3)
• Combined oxidative phosphorylation deficiency 24 (NARS2)
• Combined oxidative phosphorylation deficiency 3 (TSFM)
• Combined oxidative phosphorylation deficiency 32 (MRPS34)
• Combined oxidative phosphorylation deficiency 39 (GFM2)
• Combined oxidative phosphorylation deficiency 51 (PTCD3)
• Combined oxidative phosphorylation deficiency 7 (MTRFR)
• Combined oxidative phosphorylation deficiency 8 (AARS2)
• Congenital disorder of glycosylation, type IIn (SLC39A8)
• Dihydrolipoamide dehydrogenase deficiency (DLD)
• Encephalopathy due to defective mitochondrial + peroxisomal fission 2 (MFF)
• Ethylmalonic encephalopathy (ETHE1)
• GABA-transaminase deficiency (ABAT)
• Glutaric acidemia IIC (ETFDH)
• Hyperglycinemia, lactic acidosis + seizures (LIAS)
• Lacticacidemia due to PDX1 deficiency (PDHX)
• Leigh syndrome (BCS1L, SDHA)
• Leigh syndrome due to cytochrome c oxidase deficiency (COX15)
• Leigh syndrome due to mitochondrial COX4 deficiency (COX10)
• Leigh syndrome, due to COX IV deficiency (SURF1)
• Lipoyltransferase 1 deficiency (LIPT1)
• Mitochondrial DNA depletion syndrome 1, MNGIE type (TYMP)
• Mitochondrial DNA depletion syndrome 11 (MGME1)
• Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type, AD (SLC25A4)
• Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type) AR (SLC25A4)
• Mitochondrial DNA depletion syndrome 13, encephalomyopathic type (FBXL4)
• Mitochondrial DNA depletion syndrome 14, encephalocardiomyopathic type (OPA1)
• Mitochondrial DNA depletion syndrome 15, hepatocerebral type (TFAM)
• Mitochondrial DNA depletion syndrome 16, hepatic type (POLG2)
• Mitochondrial DNA depletion syndrome 16B, neuroophthalmic type (POLG2)
• Mitochondrial DNA depletion syndrome 18 (SLC25A21)
• Mitochondrial DNA depletion syndrome 2, myopathic type (TK2)
• Mitochondrial DNA depletion syndrome 3, hepatocerebral type (DGUOK)
• Mitochondrial DNA depletion syndrome 4A, Alpers type + 4B, MNGIE type (POLG)
• Mitochondrial DNA depletion syndrome 5, encephalomyopathic +/- methylmalonic aciduria (SUCLA2)
• Mitochondrial DNA depletion syndrome 6, hepatocerebral type (MPV14)
• Mitochondrial DNA depletion syndrome 7, hepatocerebral type (TWNK)
• Mitochondrial DNA depletion syndrome 8A, encephalomyopathic type with renal tubulopathy (RRM2B)
• Mitochondrial DNA depletion syndrome 8B, MNGIE type (RRM2B)
• Mitochondrial DNA depletion syndrome 9, encephalomyopathic type + methylmalonic aciduria (SUCLG1)
• Mitochondrial complex I deficiency, nuclear type 1 (NDUFS4)
• Mitochondrial complex I deficiency, nuclear type 13 (NDUFA2)
• Mitochondrial complex I deficiency, nuclear type 15 (NDUFAF4)
• Mitochondrial complex I deficiency, nuclear type 16 (NDUFAF5)
• Mitochondrial complex I deficiency, nuclear type 17 (NDUFAF2, NDUFAF6)
• Mitochondrial complex I deficiency, nuclear type 19 (FOXRED1)
• Mitochondrial complex I deficiency, nuclear type 2 (NDUFS8)
• Mitochondrial complex I deficiency, nuclear type 20 (ACAD9)
• Mitochondrial complex I deficiency, nuclear type 21 (NUBPL)
• Mitochondrial complex I deficiency, nuclear type 22 (NDUFA10)
• Mitochondrial complex I deficiency, nuclear type 23 (NDUFA12)
• Mitochondrial complex I deficiency, nuclear type 26 (NDUFA9)
• Mitochondrial complex I deficiency, nuclear type 27 (MTFMT)
• Mitochondrial complex I deficiency, nuclear type 3 (NDUFS7)
• Mitochondrial complex I deficiency, nuclear type 31 (TIMMDC1)
• Mitochondrial complex I deficiency, nuclear type 34 (NDUFAF8)
• Mitochondrial complex I deficiency, nuclear type 4 (NDUFV1)
• Mitochondrial complex I deficiency, nuclear type 5 (NDUFS1)
• Mitochondrial complex I deficiency, nuclear type 6 (NDUFS2)
• Mitochondrial complex I deficiency, nuclear type 7 (NDUFV2)
• Mitochondrial complex I deficiency, nuclear type 8 (NDUFS3)
• Mitochondrial complex II deficiency, nuclear type 2 (SDHAF1)
• Mitochondrial complex III deficiency, nuclear type 1 (BCS1L)
• Mitochondrial complex III deficiency, nuclear type 2 (TTC19)
• Mitochondrial complex III deficiency, nuclear type 4 (UQCRQ)
• Mitochondrial complex IV deficiency (COX10)
• Mitochondrial complex IV deficiency, nuclear type 12 (PET100)
• Mitochondrial complex IV deficiency, nuclear type 15 (COX8A)
• Mitochondrial complex IV deficiency, nuclear type 19 (PET117)
• Mitochondrial complex IV deficiency, nuclear type 2 (SCO2)
• Mitochondrial complex IV deficiency, nuclear type 21 (NDUFA4)
• Mitochondrial complex IV deficiency, nuclear type 5, French-Canadian (LRPPRC)
• Mitochondrial complex IV deficiency, nuclear type 8 (TACO1)
• Mitochondrial recessive ataxia syndrome; includes SANDO + SCAE (POLG)
• Mitochondrial respiratory chain complex II deficiency (SDHA)
• Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1)
• Myopathy, mitochondrial progressive, with congenital cataract + developmental delay (GFER)
• Pontocerebellar hypoplasia, type 1E (SLV25A46)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD (TWNK)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 2 (SLC25A4)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 4 (POLG2)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 5 (RRM2B)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 6 (DNA2)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 2 (RNASEH1)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 3 (TK2)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 4 (DGUOK)
• Progressive external ophthalmoplegia, AD 1 (POLG)
• Progressive external ophthalmoplegia, AR 1 (POLG)
• Pyruvate dehydrogenase E1-beta deficiency (PDHB)
• Pyruvate dehydrogenase E2 deficiency (DLAT)
• Sengers syndrome (AGK)
• Spastic paraplegia 55, AR (MTRFR)
• Spastic paraplegia 7, AR (SPG7)
• Spastic paraplegia 77, AR (FARS2)
• Spinocerebellar ataxia, AR 10 (ANO10)
• Sulfide:quinone oxidoreductase deficiency (SQOR)
• Thiamine metabolism dysfunction syndrome 2, biotin-/thiamine-responsive encephalopathy 2 (SLC19A3)
• Thiamine metabolism dysfunction syndrome 4, progressive polyneuropathy type (SLC25A19)
• Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (TPK1)