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Focal T2 hyperintense thalamic lesion

MedGen UID:
868380
Concept ID:
C4022774
Finding
HPO: HP:0012692

Definition

A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFocal T2 hyperintense thalamic lesion

Conditions with this feature

Sterol carrier protein 2 deficiency
MedGen UID:
462340
Concept ID:
C3150990
Disease or Syndrome
Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.
Mitochondrial complex 4 deficiency, nuclear type 3
MedGen UID:
1764816
Concept ID:
C5436682
Disease or Syndrome
Mitochondrial complex IV deficiency nuclear type 3 (MC4DN3) is an autosomal recessive multisystem metabolic disorder with a highly variable phenotype. Some patients present with encephalomyopathic features in early infancy, whereas others may present later in infancy or the first years of life after normal early development. Affected individuals show hypotonia, failure to thrive, and developmental delay or regression with poor eye contact and loss of motor skills with ataxia. Additional features observed in some patients include proximal renal tubulopathy, macrocytic anemia, sensorineural hearing loss, nystagmus, and hypertrophic cardiomyopathy, consistent with systemic involvement. Brain imaging in most patients shows lesions consistent with Leigh syndrome (see 256000). Laboratory studies show increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV. Most patients die in infancy (summary by Valnot et al., 2000 and Antonicka et al., 2003). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.
Combined oxidative phosphorylation deficiency 51
MedGen UID:
1757992
Concept ID:
C5436703
Disease or Syndrome
Combined oxidative phosphorylation deficiency-51 (COXPD51) is an autosomal recessive disorder characterized by a Leigh syndrome phenotype (see 256000). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).

Recent clinical studies

Etiology

Song X, Ma J
Front Immunol 2022;13:1050688. Epub 2022 Dec 1 doi: 10.3389/fimmu.2022.1050688. PMID: 36532000Free PMC Article
Cunha IA, Gomes I, Gens H, Guimarães S, Martins AI, Bento C
Eur J Neurol 2021 Jul;28(7):2456-2459. doi: 10.1111/ene.14847. PMID: 33786955
Gill DS, Hyman SL, Steinberg A, North KN
Pediatr Radiol 2006 Oct;36(10):1048-56. Epub 2006 Aug 16 doi: 10.1007/s00247-006-0267-2. PMID: 16912896
Mannan AA, Sharma MC, Shrivastava P, Ralte AM, Gupta V, Behari M, Sarkar C
Indian J Pediatr 2004 Nov;71(11):1029-33. doi: 10.1007/BF02828121. PMID: 15572826
Kuenzle C, Baenziger O, Martin E, Thun-Hohenstein L, Steinlin M, Good M, Fanconi S, Boltshauser E, Largo RH
Neuropediatrics 1994 Aug;25(4):191-200. doi: 10.1055/s-2008-1073021. PMID: 7824091

Diagnosis

Marano M, Brunelli C, De Marco C, Martini M, Quattrocchi CC, Lauriola L, Di Lazzaro V
Can J Neurol Sci 2021 Jan;48(1):114-115. Epub 2020 Jul 6 doi: 10.1017/cjn.2020.133. PMID: 32624028
Wendel C, Kaech DL, Woodtli M
J Neurol Surg A Cent Eur Neurosurg 2018 Jul;79(4):344-352. Epub 2018 Apr 12 doi: 10.1055/s-0038-1639504. PMID: 29649851
Stojanov D, Vojinovic S, Aracki-Trenkic A, Tasic A, Benedeto-Stojanov D, Ljubisavljevic S, Vujnovic S
Bosn J Basic Med Sci 2015 Feb 9;15(1):1-8. doi: 10.17305/bjbms.2015.247. PMID: 25725137Free PMC Article
Mannan AA, Sharma MC, Shrivastava P, Ralte AM, Gupta V, Behari M, Sarkar C
Indian J Pediatr 2004 Nov;71(11):1029-33. doi: 10.1007/BF02828121. PMID: 15572826
Pantano P, Caramia F, Pierallini A
Ital J Neurol Sci 1999;20(5 Suppl):S250-3. doi: 10.1007/s100729970006. PMID: 10662960

Therapy

Yuen CA, Mastrianni J, Ali S, Pytel P, Park DM, Rezania K
Medicine (Baltimore) 2020 Sep 18;99(38):e22062. doi: 10.1097/MD.0000000000022062. PMID: 32957327Free PMC Article
Bastos Leite AJ, van der Flier WM, van Straaten EC, Scheltens P, Barkhof F
Stroke 2006 Jan;37(1):105-10. Epub 2005 Dec 8 doi: 10.1161/01.STR.0000196984.90718.8a. PMID: 16339463
Dichgans M, Holtmannspötter M, Herzog J, Peters N, Bergmann M, Yousry TA
Stroke 2002 Jan;33(1):67-71. doi: 10.1161/hs0102.100885. PMID: 11779891

Prognosis

Navarro RE, Golub D, Hill T, McQuinn MW, William C, Zagzag D, Hidalgo ET
Childs Nerv Syst 2021 Jul;37(7):2347-2356. Epub 2020 Sep 28 doi: 10.1007/s00381-020-04892-0. PMID: 32989496
Wendel C, Kaech DL, Woodtli M
J Neurol Surg A Cent Eur Neurosurg 2018 Jul;79(4):344-352. Epub 2018 Apr 12 doi: 10.1055/s-0038-1639504. PMID: 29649851
Williams JA, Bede P, Doherty CP
Seizure 2017 Aug;50:19-32. Epub 2017 May 31 doi: 10.1016/j.seizure.2017.05.005. PMID: 28600921
Mannan AA, Sharma MC, Shrivastava P, Ralte AM, Gupta V, Behari M, Sarkar C
Indian J Pediatr 2004 Nov;71(11):1029-33. doi: 10.1007/BF02828121. PMID: 15572826
Prayer L, Wimberger D, Kramer J, Grimm G, Oder W, Imhof H
Neuroradiology 1990;32(3):211-4. doi: 10.1007/BF00589114. PMID: 2215906

Clinical prediction guides

Song X, Ma J
Front Immunol 2022;13:1050688. Epub 2022 Dec 1 doi: 10.3389/fimmu.2022.1050688. PMID: 36532000Free PMC Article
Cunha IA, Gomes I, Gens H, Guimarães S, Martins AI, Bento C
Eur J Neurol 2021 Jul;28(7):2456-2459. doi: 10.1111/ene.14847. PMID: 33786955
Marano M, Brunelli C, De Marco C, Martini M, Quattrocchi CC, Lauriola L, Di Lazzaro V
Can J Neurol Sci 2021 Jan;48(1):114-115. Epub 2020 Jul 6 doi: 10.1017/cjn.2020.133. PMID: 32624028
Bastos Leite AJ, van der Flier WM, van Straaten EC, Scheltens P, Barkhof F
Stroke 2006 Jan;37(1):105-10. Epub 2005 Dec 8 doi: 10.1161/01.STR.0000196984.90718.8a. PMID: 16339463
Dichgans M, Holtmannspötter M, Herzog J, Peters N, Bergmann M, Yousry TA
Stroke 2002 Jan;33(1):67-71. doi: 10.1161/hs0102.100885. PMID: 11779891

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