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Abnormal dentate nucleus morphology

MedGen UID:
867758
Concept ID:
C4022148
Anatomical Abnormality
Synonym: Abnormality of the dentate nucleus
 
HPO: HP:0100321

Definition

An abnormality of the dentate nucleus. [from HPO]

Conditions with this feature

Cholestanol storage disease
MedGen UID:
116041
Concept ID:
C0238052
Disease or Syndrome
Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease characterized by infantile-onset diarrhea, childhood-onset cataract, adolescent- to young adult-onset tendon xanthomas, and adult-onset progressive neurologic dysfunction (dementia, psychiatric disturbances, pyramidal and/or cerebellar signs, dystonia, atypical parkinsonism, peripheral neuropathy, and seizures). Chronic diarrhea from infancy and/or neonatal cholestasis may be the earliest clinical manifestation. In approximately 75% of affected individuals, cataracts are the first finding, often appearing in the first decade of life. Xanthomas appear in the second or third decade; they occur on the Achilles tendon, the extensor tendons of the elbow and hand, the patellar tendon, and the neck tendons. Xanthomas have been reported in the lung, bones, and central nervous system. Some individuals show cognitive impairment from early infancy, whereas the majority have normal or only slightly impaired intellectual function until puberty; dementia with slow deterioration in intellectual abilities occurs in the third decade in more than 50% of individuals. Neuropsychiatric symptoms such as behavioral changes, hallucinations, agitation, aggression, depression, and suicide attempts may be prominent. Pyramidal signs (i.e., spasticity) and/or cerebellar signs almost invariably become evident between ages 20 and 30 years. The biochemical abnormalities that distinguish CTX from other conditions with xanthomas include high plasma and tissue cholestanol concentration, normal-to-low plasma cholesterol concentration, decreased chenodeoxycholic acid (CDCA), increased concentration of bile alcohols and their glyconjugates, and increased concentrations of cholestanol and apolipoprotein B in cerebrospinal fluid.
Alexander disease
MedGen UID:
78724
Concept ID:
C0270726
Disease or Syndrome
Alexander disease, a progressive disorder of cerebral white matter caused by a heterozygous GFAP pathogenic variant, comprises a continuous clinical spectrum most recognizable in infants and children and a range of nonspecific neurologic manifestations in adults. This chapter discusses the spectrum of Alexander disease as four forms: neonatal, infantile, juvenile, and adult. The neonatal form begins in the first 30 days after birth with neurologic findings (e.g., hypotonia, hyperexcitability, myoclonus) and/or gastrointestinal manifestations (e.g., gastroesophageal reflux, vomiting, failure to thrive), followed by severe developmental delay and regression, seizures, megalencephaly, and typically death within two years. The infantile form is characterized by variable developmental issues: initially some have delayed or plateauing of acquisition of new skills, followed in some by a loss of gross and fine motor skills and language during in the first decade or in others a slow disease course that spans decades. Seizures, often triggered by illness, may be less frequent/severe than in the neonatal form. The juvenile form typically presents in childhood or adolescence with clinical and imaging features that overlap with the other forms. Manifestations in early childhood are milder than those in the infantile form (e.g., mild language delay may be the only developmental abnormality or, with language acquisition, hypophonia or nasal speech may alter the voice, often prior to appearance of other neurologic features). Vomiting and failure to thrive as well as scoliosis and autonomic dysfunction are common. The adult form is typically characterized by bulbar or pseudobulbar findings (palatal myoclonus, dysphagia, dysphonia, dysarthria or slurred speech), motor/gait abnormalities with pyramidal tract signs (spasticity, hyperreflexia, positive Babinski sign), or cerebellar abnormalities (ataxia, nystagmus, or dysmetria). Others may have hemiparesis or hemiplegia with a relapsing/remitting course or slowly progressive quadriparesis or quadriplegia. Other neurologic features can include sleep apnea, diplopia or disorders of extraocular motility, and autonomic dysfunction.
Neurodevelopmental disorder with hypotonia and brain abnormalities
MedGen UID:
1794187
Concept ID:
C5561977
Disease or Syndrome
Neurodevelopmental disorder with hypotonia and brain abnormalities (NEDHYBA) is characterized by impaired development of motor skills, cognitive function, and speech acquisition beginning in infancy or early childhood. Some affected individuals may have feeding difficulties, seizures, behavioral abnormalities, and nonspecific dysmorphic facial features. Brain imaging shows variable abnormalities, including corpus callosum defects, cerebellar defects, and decreased white matter volume. There is significant phenotypic variability (summary by Duncan et al., 2021).
Neurodevelopmental disorder with seizures and brain abnormalities
MedGen UID:
1794189
Concept ID:
C5561979
Disease or Syndrome
Neurodevelopmental disorder with seizures and brain abnormalities (NEDSBA) is an autosomal recessive neurologic disorder characterized by global developmental delay and onset of seizures in the first months of life associated with structural brain defects on brain imaging. Additional features may include pigmentary retinopathy with poor visual fixation and spasticity (summary by Duncan et al., 2021).

Professional guidelines

PubMed

Poretti A, Wolf NI, Boltshauser E
Neuropediatrics 2015 Dec;46(6):359-70. Epub 2015 Oct 7 doi: 10.1055/s-0035-1564620. PMID: 26444039
Horton LC, Frosch MP, Vangel MG, Weigel-DiFranco C, Berson EL, Schmahmann JD
Cerebellum 2013 Apr;12(2):176-93. doi: 10.1007/s12311-012-0412-4. PMID: 22915085Free PMC Article
Juric-Sekhar G, Adkins J, Doherty D, Hevner RF
Acta Neuropathol 2012 May;123(5):695-709. Epub 2012 Feb 14 doi: 10.1007/s00401-012-0951-2. PMID: 22331178

Recent clinical studies

Etiology

Fouda MA, Kim TY, Cohen AR
World Neurosurg 2022 Mar;159:48-53. Epub 2021 Dec 22 doi: 10.1016/j.wneu.2021.12.062. PMID: 34954057
Machaalani R, Vivekanandarajah A, Despotovski V, Rodriguez M, Waters KA
J Neuropathol Exp Neurol 2022 Jan 21;81(1):61-75. doi: 10.1093/jnen/nlab119. PMID: 34865047
Annink KV, Meerts L, van der Aa NE, Alderliesten T, Nikkels PGJ, Nijboer CHA, Groenendaal F, de Vries LS, Benders MJNL, Hoebeek FE, Dudink J
Pediatr Res 2021 Apr;89(5):1171-1178. Epub 2020 Sep 23 doi: 10.1038/s41390-020-01173-z. PMID: 32967002
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
Barkovich MJ, Tan CH, Nillo RM, Li Y, Xu D, Glastonbury CM, Glenn OA, Dillon WP, Hess CP, Mueller S, Kline C, Dale AM, Jernigan TL, Sugrue LP, Barkovich AJ, Desikan RS
Radiology 2018 Nov;289(2):499-508. Epub 2018 Sep 4 doi: 10.1148/radiol.2018172863. PMID: 30179114Free PMC Article

Diagnosis

Fouda MA, Kim TY, Cohen AR
World Neurosurg 2022 Mar;159:48-53. Epub 2021 Dec 22 doi: 10.1016/j.wneu.2021.12.062. PMID: 34954057
Machaalani R, Vivekanandarajah A, Despotovski V, Rodriguez M, Waters KA
J Neuropathol Exp Neurol 2022 Jan 21;81(1):61-75. doi: 10.1093/jnen/nlab119. PMID: 34865047
Lehéricy S, Roze E, Goizet C, Mochel F
Curr Opin Neurol 2020 Aug;33(4):462-473. doi: 10.1097/WCO.0000000000000844. PMID: 32657887
Delonlay P, Rötig A, Sarnat HB
Handb Clin Neurol 2013;113:1651-66. doi: 10.1016/B978-0-444-59565-2.00033-2. PMID: 23622386
Whetsell W, Saigal G, Godinho S
Pediatr Radiol 2006 Jun;36(6):552-4. Epub 2006 Apr 11 doi: 10.1007/s00247-006-0150-1. PMID: 16607507

Therapy

Ma C, Ren YD, Wang JC, Wang CJ, Zhao JP, Zhou T, Su HW
Medicine (Baltimore) 2021 Mar 5;100(9):e24687. doi: 10.1097/MD.0000000000024687. PMID: 33655933Free PMC Article
Adin ME, Kleinberg L, Vaidya D, Zan E, Mirbagheri S, Yousem DM
AJNR Am J Neuroradiol 2015 Oct;36(10):1859-65. Epub 2015 Aug 20 doi: 10.3174/ajnr.A4378. PMID: 26294649Free PMC Article
Jiang Y, Kumada T, Cameron DB, Komuro H
Dev Neurosci 2008;30(1-3):7-23. doi: 10.1159/000109847. PMID: 18075250
Karunanayake MC, Perera BJ
Ceylon Med J 2003 Sep;48(3):89-90. doi: 10.4038/cmj.v48i3.3354. PMID: 14735807
Lapresle J
Adv Neurol 1986;43:265-73. PMID: 3484855

Prognosis

Ogut E, Armagan K, Tufekci D
Neurosurg Rev 2023 Jul 20;46(1):181. doi: 10.1007/s10143-023-02086-1. PMID: 37468768
Baiardi S, Mammana A, Dellavalle S, Rossi M, Redaelli V, Colaizzo E, Di Fede G, Ladogana A, Capellari S, Parchi P
Brain 2023 Aug 1;146(8):3289-3300. doi: 10.1093/brain/awad074. PMID: 36883639Free PMC Article
Louis ED, Faust PL
Cerebellum 2020 Dec;19(6):879-896. doi: 10.1007/s12311-020-01160-4. PMID: 32666285Free PMC Article
Hopley RT, Haller E, Rojiani MV, Rojiani AM
J Neuropathol Exp Neurol 2017 Nov 1;76(11):949-956. doi: 10.1093/jnen/nlx084. PMID: 29044415
Adamsbaum C, Moutard ML, André C, Merzoug V, Ferey S, Quéré MP, Lewin F, Fallet-Bianco C
Pediatr Radiol 2005 Feb;35(2):124-40. Epub 2004 Nov 23 doi: 10.1007/s00247-004-1316-3. PMID: 15565345

Clinical prediction guides

Iacono D, Peng H, Rabin ML, Kurlan R
J Neuropathol Exp Neurol 2023 Jul 20;82(8):695-706. doi: 10.1093/jnen/nlad044. PMID: 37352388
Mascalchi M, Vella A
Int J Mol Sci 2020 Feb 4;21(3) doi: 10.3390/ijms21031020. PMID: 32033120Free 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
Cen Z, Chen Y, Chen S, Wang H, Yang D, Zhang H, Wu H, Wang L, Tang S, Ye J, Shen J, Wang H, Fu F, Chen X, Xie F, Liu P, Xu X, Cao J, Cai P, Pan Q, Li J, Yang W, Shan PF, Li Y, Liu JY, Zhang B, Luo W
Brain 2020 Feb 1;143(2):491-502. doi: 10.1093/brain/awz392. PMID: 31851307
Bostan AC, Strick PL
Nat Rev Neurosci 2018 Jun;19(6):338-350. doi: 10.1038/s41583-018-0002-7. PMID: 29643480Free PMC Article

Recent systematic reviews

Ogut E, Armagan K, Tufekci D
Neurosurg Rev 2023 Jul 20;46(1):181. doi: 10.1007/s10143-023-02086-1. PMID: 37468768
Joaquim AF
Rev Assoc Med Bras (1992) 2020 Mar;66(3):375-379. doi: 10.1590/1806-9282.66.3.375. PMID: 32520161

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