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Abnormal globus pallidus morphology

MedGen UID:
871225
Concept ID:
C4025706
Anatomical Abnormality
Synonym: Abnormality of the globus pallidus
 
HPO: HP:0002453

Definition

An abnormality of the globus pallidus. [from HPO]

Conditions with this feature

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
MedGen UID:
344424
Concept ID:
C1855114
Disease or Syndrome
For this GeneReview, the term "isolated methylmalonic acidemia" refers to a group of inborn errors of metabolism associated with elevated methylmalonic acid (MMA) concentration in the blood and urine that result from the failure to isomerize (convert) methylmalonyl-coenzyme A (CoA) into succinyl-CoA during propionyl-CoA metabolism in the mitochondrial matrix, without hyperhomocysteinemia or homocystinuria, hypomethioninemia, or variations in other metabolites, such as malonic acid. Isolated MMA is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, respectively), a defect in the transport or synthesis of its cofactor, 5-deoxy-adenosyl-cobalamin (cblA, cblB, or cblD-MMA), or deficiency of the enzyme methylmalonyl-CoA epimerase. Prior to the advent of newborn screening, common phenotypes included: Infantile/non-B12-responsive form (mut0 enzymatic subtype, cblB), the most common phenotype, associated with infantile-onset lethargy, tachypnea, hypothermia, vomiting, and dehydration on initiation of protein-containing feeds. Without appropriate treatment, the infantile/non-B12-responsive phenotype could rapidly progress to coma due to hyperammonemic encephalopathy. Partially deficient or B12-responsive phenotypes (mut– enzymatic subtype, cblA, cblB [rare], cblD-MMA), in which symptoms occur in the first few months or years of life and are characterized by feeding problems, failure to thrive, hypotonia, and developmental delay marked by episodes of metabolic decompensation. Methylmalonyl-CoA epimerase deficiency, in which findings range from complete absence of symptoms to severe metabolic acidosis. Affected individuals can also develop ataxia, dysarthria, hypotonia, mild spastic paraparesis, and seizures. In those individuals diagnosed by newborn screening and treated from an early age, there appears to be decreased early mortality, less severe symptoms at diagnosis, favorable short-term neurodevelopmental outcome, and lower incidence of movement disorders and irreversible cerebral damage. However, secondary complications may still occur and can include intellectual disability, tubulointerstitial nephritis with progressive impairment of renal function, "metabolic stroke" (bilateral lacunar infarction of the basal ganglia during acute metabolic decompensation), pancreatitis, growth failure, functional immune impairment, bone marrow failure, optic nerve atrophy, arrhythmias and/or cardiomyopathy (dilated or hypertrophic), liver steatosis/fibrosis/cancer, and renal cancer.
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
MedGen UID:
1684818
Concept ID:
C5231423
Disease or Syndrome
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (NEDHIB) is characterized by early-onset hypotonia, delayed walking, poor speech, and impaired intellectual development. Additional features may include feeding difficulties, dysmorphic features, and visual defects. Brain imaging tends to show delayed myelination, thin corpus callosum, and/or enlarged ventricles. The severity of the disorder is highly variable; initial evidence suggests that the severity may depend on the type of mutation (summary by Haijes et al., 2019).

Professional guidelines

PubMed

Vecchio D, Piras F, Piras F, Banaj N, Janiri D, Simonetti A, Sani G, Spalletta G
Neuroimage Clin 2020;25:102167. Epub 2020 Jan 10 doi: 10.1016/j.nicl.2020.102167. PMID: 31972398Free PMC Article
Rajput A, Rajput AH
Drugs Aging 2001;18(12):913-25. doi: 10.2165/00002512-200118120-00003. PMID: 11888346
Obeso JA, Rodríguez MC, Gorospe A, Guridi J, Alvarez L, Macias R
Baillieres Clin Neurol 1997 Apr;6(1):125-45. PMID: 9426872

Recent clinical studies

Etiology

Thompson-Lake DGY, Scerri TS, Block S, Turner SJ, Reilly S, Kefalianos E, Bonthrone AF, Helbig I, Bahlo M, Scheffer IE, Hildebrand MS, Liégeois FJ, Morgan AT
Brain 2022 Apr 29;145(3):1177-1188. doi: 10.1093/brain/awab364. PMID: 35296891Free PMC Article
Haghighi-Morad M, Naseri Z, Jamshidi N, Hassanian-Moghaddam H, Zamani N, Ahmad-Molaei L
BMC Med Imaging 2020 Jan 17;20(1):6. doi: 10.1186/s12880-020-0410-9. PMID: 31952488Free PMC Article
Hartig M, Prokisch H, Meitinger T, Klopstock T
Int Rev Neurobiol 2013;110:73-84. doi: 10.1016/B978-0-12-410502-7.00004-1. PMID: 24209434
Rouault TA
Nat Rev Neurosci 2013 Aug;14(8):551-64. Epub 2013 Jul 3 doi: 10.1038/nrn3453. PMID: 23820773
Albin RL, Young AB, Penney JB
Trends Neurosci 1989 Oct;12(10):366-75. doi: 10.1016/0166-2236(89)90074-x. PMID: 2479133

Diagnosis

Lehéricy S, Roze E, Goizet C, Mochel F
Curr Opin Neurol 2020 Aug;33(4):462-473. doi: 10.1097/WCO.0000000000000844. PMID: 32657887
Comella CL
Parkinsonism Relat Disord 2018 Jan;46 Suppl 1:S66-S69. Epub 2017 Jun 30 doi: 10.1016/j.parkreldis.2017.06.025. PMID: 28843401
Bekiesinska-Figatowska M, Mierzewska H, Jurkiewicz E
Eur J Radiol 2013 May;82(5):837-49. Epub 2013 Jan 10 doi: 10.1016/j.ejrad.2012.12.006. PMID: 23313708
Grandas F
Handb Clin Neurol 2011;100:249-60. doi: 10.1016/B978-0-444-52014-2.00017-3. PMID: 21496584
Kalita J, Misra UK, Pradhan PK
J Neurol Sci 2011 May 15;304(1-2):107-10. Epub 2011 Mar 13 doi: 10.1016/j.jns.2011.02.001. PMID: 21402389

Therapy

Obeso JA, Rodríguez-Oroz MC, Benitez-Temino B, Blesa FJ, Guridi J, Marin C, Rodriguez M
Mov Disord 2008;23 Suppl 3:S548-59. doi: 10.1002/mds.22062. PMID: 18781672
Cersosimo MG, Koller WC
Neurotoxicology 2006 May;27(3):340-6. Epub 2005 Dec 1 doi: 10.1016/j.neuro.2005.10.006. PMID: 16325915
Brotchie JM
Mov Disord 2005 Aug;20(8):919-31. doi: 10.1002/mds.20612. PMID: 16007614
Rajput A, Rajput AH
Drugs Aging 2001;18(12):913-25. doi: 10.2165/00002512-200118120-00003. PMID: 11888346
Swaiman KF
Arch Neurol 1991 Dec;48(12):1285-93. doi: 10.1001/archneur.1991.00530240091029. PMID: 1845035

Prognosis

O'Neill J, Piacentini JC, Peterson BS
Handb Clin Neurol 2019;166:165-221. doi: 10.1016/B978-0-444-64196-0.00011-X. PMID: 31731911
Hartig M, Prokisch H, Meitinger T, Klopstock T
Int Rev Neurobiol 2013;110:73-84. doi: 10.1016/B978-0-12-410502-7.00004-1. PMID: 24209434
Bekiesinska-Figatowska M, Mierzewska H, Jurkiewicz E
Eur J Radiol 2013 May;82(5):837-49. Epub 2013 Jan 10 doi: 10.1016/j.ejrad.2012.12.006. PMID: 23313708
Grandas F
Handb Clin Neurol 2011;100:249-60. doi: 10.1016/B978-0-444-52014-2.00017-3. PMID: 21496584
Lozano AM, Abosch A
Adv Neurol 2004;94:301-8. PMID: 14509687

Clinical prediction guides

Thompson-Lake DGY, Scerri TS, Block S, Turner SJ, Reilly S, Kefalianos E, Bonthrone AF, Helbig I, Bahlo M, Scheffer IE, Hildebrand MS, Liégeois FJ, Morgan AT
Brain 2022 Apr 29;145(3):1177-1188. doi: 10.1093/brain/awab364. PMID: 35296891Free PMC Article
Haghighi-Morad M, Naseri Z, Jamshidi N, Hassanian-Moghaddam H, Zamani N, Ahmad-Molaei L
BMC Med Imaging 2020 Jan 17;20(1):6. doi: 10.1186/s12880-020-0410-9. PMID: 31952488Free PMC Article
O'Neill J, Piacentini JC, Peterson BS
Handb Clin Neurol 2019;166:165-221. doi: 10.1016/B978-0-444-64196-0.00011-X. PMID: 31731911
Hartig M, Prokisch H, Meitinger T, Klopstock T
Int Rev Neurobiol 2013;110:73-84. doi: 10.1016/B978-0-12-410502-7.00004-1. PMID: 24209434
Cersosimo MG, Koller WC
Neurotoxicology 2006 May;27(3):340-6. Epub 2005 Dec 1 doi: 10.1016/j.neuro.2005.10.006. PMID: 16325915

Recent systematic reviews

Arnone D, Cavanagh J, Gerber D, Lawrie SM, Ebmeier KP, McIntosh AM
Br J Psychiatry 2009 Sep;195(3):194-201. doi: 10.1192/bjp.bp.108.059717. PMID: 19721106

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