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Hypoglycorrhachia

MedGen UID:
488927
Concept ID:
C0598121
Finding
Synonym: Decreased CSF glucose
 
HPO: HP:0011972

Definition

Abnormally low glucose concentration in the cerebrospinal fluid. [from HPO]

Conditions with this feature

Hereditary cryohydrocytosis with reduced stomatin
MedGen UID:
332390
Concept ID:
C1837206
Disease or Syndrome
Stomatin-deficient cryohydrocytosis with neurologic defects is an autosomal dominant disorder characterized by delayed psychomotor development, seizures, cataracts, and pseudohyperkalemia resulting from defects in the red blood cell membrane. The disorder combines the neurologic features of Glut1 deficiency syndrome-1 (GLUT1DS1; 606777), resulting from impaired glucose transport at the blood-brain barrier, and hemolytic anemia/pseudohyperkalemia with stomatocytosis, resulting from a cation leak in erythrocytes (summary by Bawazir et al., 2012). For a discussion of clinical and genetic heterogeneity of red cell stomatocyte disorders, see 194380.
Childhood onset GLUT1 deficiency syndrome 2
MedGen UID:
330866
Concept ID:
C1842534
Disease or Syndrome
The phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS) is now known to be a continuum that includes the classic phenotype as well as paroxysmal exercise-induced dyskinesia and epilepsy (previously known as dystonia 18 [DYT18]) and paroxysmal choreoathetosis with spasticity (previously known as dystonia 9 [DYT9]), atypical childhood absence epilepsy, myoclonic astatic epilepsy, and paroxysmal non-epileptic findings including intermittent ataxia, choreoathetosis, dystonia, and alternating hemiplegia. The classic phenotype is characterized by infantile-onset seizures, delayed neurologic development, acquired microcephaly, and complex movement disorders. Seizures in classic early-onset Glut1 DS begin before age six months. Several seizure types occur: generalized tonic or clonic, focal, myoclonic, atypical absence, atonic, and unclassified. In some infants, apneic episodes and abnormal episodic eye-head movements similar to opsoclonus may precede the onset of seizures. The frequency, severity, and type of seizures vary among affected individuals and are not related to disease severity. Cognitive impairment, ranging from learning disabilities to severe intellectual disability, is typical. The complex movement disorder, characterized by ataxia, dystonia, and chorea, may occur in any combination and may be continuous, paroxysmal, or continual with fluctuations in severity influenced by environmental factors such as fasting or with infectious stress. Symptoms often improve substantially when a ketogenic diet is started.
Encephalopathy due to GLUT1 deficiency
MedGen UID:
1645412
Concept ID:
C4551966
Disease or Syndrome
The phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS) is now known to be a continuum that includes the classic phenotype as well as paroxysmal exercise-induced dyskinesia and epilepsy (previously known as dystonia 18 [DYT18]) and paroxysmal choreoathetosis with spasticity (previously known as dystonia 9 [DYT9]), atypical childhood absence epilepsy, myoclonic astatic epilepsy, and paroxysmal non-epileptic findings including intermittent ataxia, choreoathetosis, dystonia, and alternating hemiplegia. The classic phenotype is characterized by infantile-onset seizures, delayed neurologic development, acquired microcephaly, and complex movement disorders. Seizures in classic early-onset Glut1 DS begin before age six months. Several seizure types occur: generalized tonic or clonic, focal, myoclonic, atypical absence, atonic, and unclassified. In some infants, apneic episodes and abnormal episodic eye-head movements similar to opsoclonus may precede the onset of seizures. The frequency, severity, and type of seizures vary among affected individuals and are not related to disease severity. Cognitive impairment, ranging from learning disabilities to severe intellectual disability, is typical. The complex movement disorder, characterized by ataxia, dystonia, and chorea, may occur in any combination and may be continuous, paroxysmal, or continual with fluctuations in severity influenced by environmental factors such as fasting or with infectious stress. Symptoms often improve substantially when a ketogenic diet is started.

Professional guidelines

PubMed

Willer-Hansen RS, Olsen MH, Hauerberg J, Johansen HK, Andersen ÅB, Møller K
Acta Anaesthesiol Scand 2022 Apr;66(4):507-515. Epub 2022 Feb 14 doi: 10.1111/aas.14036. PMID: 35118661
Meena DS, Kumar D, Bohra GK, Kumar G
Infect Dis Now 2021 Nov;51(8):654-660. Epub 2021 May 5 doi: 10.1016/j.idnow.2021.04.002. PMID: 33964485
Chow E, Troy SB
Am J Med Sci 2014 Sep;348(3):186-90. doi: 10.1097/MAJ.0000000000000217. PMID: 24326618Free PMC Article

Recent clinical studies

Etiology

Ponta G, Bradanini L, Morena V, Mauri C, Ripa M, Uberti Foppa C, Castagna A, Luzzaro F, Piconi S
New Microbiol 2023 Feb;46(1):75-80. PMID: 36853823
Yu WH, Chen LW, Wang ST, Tu YF, Huang CC
Brain Dev 2019 Nov;41(10):854-861. Epub 2019 Jul 17 doi: 10.1016/j.braindev.2019.07.004. PMID: 31326153
Vigil KJ, Salazar L, Hasbun R
AIDS Patient Care STDS 2018 Feb;32(2):42-47. doi: 10.1089/apc.2017.0286. PMID: 29432047Free PMC Article
Shrikanth V, Salazar L, Khoury N, Wootton S, Hasbun R
Int J Infect Dis 2015 Oct;39:39-43. Epub 2015 Aug 21 doi: 10.1016/j.ijid.2015.08.001. PMID: 26299186Free PMC Article
Chow E, Troy SB
Am J Med Sci 2014 Sep;348(3):186-90. doi: 10.1097/MAJ.0000000000000217. PMID: 24326618Free PMC Article

Diagnosis

Becerra-Aguiar NN, Jiménez-Ruiz A, Gutierrez-Baeza DM, Aguilar-Fuentes V, Ruiz-Sandoval JL
Acta Neurol Taiwan 2024 Sep 30;33(3):143-145. PMID: 37968851
Shrikanth V, Salazar L, Khoury N, Wootton S, Hasbun R
Int J Infect Dis 2015 Oct;39:39-43. Epub 2015 Aug 21 doi: 10.1016/j.ijid.2015.08.001. PMID: 26299186Free PMC Article
Salva I, de Sousa R, Gouveia C
BMJ Case Rep 2014 Mar 10;2014 doi: 10.1136/bcr-2013-203283. PMID: 24614778Free PMC Article
Verrotti A, D'Egidio C, Agostinelli S, Gobbi G
Eur J Paediatr Neurol 2012 Jan;16(1):3-9. Epub 2011 Oct 1 doi: 10.1016/j.ejpn.2011.09.005. PMID: 21962875
Klepper J
Epilepsy Res 2012 Jul;100(3):272-7. Epub 2011 Mar 5 doi: 10.1016/j.eplepsyres.2011.02.007. PMID: 21382692

Therapy

Ponta G, Bradanini L, Morena V, Mauri C, Ripa M, Uberti Foppa C, Castagna A, Luzzaro F, Piconi S
New Microbiol 2023 Feb;46(1):75-80. PMID: 36853823
Siegler JE, Jacobs DA, Amado D, Adams JL, Berger JR
J Clin Neurosci 2015 Oct;22(10):1685-7. Epub 2015 Jun 19 doi: 10.1016/j.jocn.2015.05.007. PMID: 26094562
Salva I, de Sousa R, Gouveia C
BMJ Case Rep 2014 Mar 10;2014 doi: 10.1136/bcr-2013-203283. PMID: 24614778Free PMC Article
Sarva H, Chapman R, Omoregie E, Abrams C
Clin Rheumatol 2011 Dec;30(12):1631-9. Epub 2011 Aug 26 doi: 10.1007/s10067-011-1834-y. PMID: 21870035
Cohen BA, McArthur JC, Grohman S, Patterson B, Glass JD
Neurology 1993 Mar;43(3 Pt 1):493-9. doi: 10.1212/wnl.43.3_part_1.493. PMID: 8383823

Prognosis

Wang M, Wang Z, Zhang S, Zhang L, Zhao J, Wang Q, Tian X, Li M, Chiganer EH, Zeng X
Autoimmun Rev 2022 Feb;21(2):102996. Epub 2021 Nov 16 doi: 10.1016/j.autrev.2021.102996. PMID: 34798313
Shrikanth V, Salazar L, Khoury N, Wootton S, Hasbun R
Int J Infect Dis 2015 Oct;39:39-43. Epub 2015 Aug 21 doi: 10.1016/j.ijid.2015.08.001. PMID: 26299186Free PMC Article
Siegler JE, Jacobs DA, Amado D, Adams JL, Berger JR
J Clin Neurosci 2015 Oct;22(10):1685-7. Epub 2015 Jun 19 doi: 10.1016/j.jocn.2015.05.007. PMID: 26094562
Hsieh WS, Tsai LY, Jeng SF, Hsu CH, Lin HC, Hsueh PR, Chen CY, Chou HC, Tsao PN, Yang PH
Int J Infect Dis 2009 Mar;13(2):193-5. Epub 2008 Sep 3 doi: 10.1016/j.ijid.2008.06.006. PMID: 18768340
Klepper J, Leiendecker B
Dev Med Child Neurol 2007 Sep;49(9):707-16. doi: 10.1111/j.1469-8749.2007.00707.x. PMID: 17718830

Clinical prediction guides

Becerra-Aguiar NN, Jiménez-Ruiz A, Gutierrez-Baeza DM, Aguilar-Fuentes V, Ruiz-Sandoval JL
Acta Neurol Taiwan 2024 Sep 30;33(3):143-145. PMID: 37968851
Zono B, Moutschen M, Situakibanza H, Sacheli R, Muendele G, Kabututu P, Biakabuswa A, Landu N, Mvumbi G, Hayette MP
BMC Infect Dis 2021 Nov 15;21(1):1157. doi: 10.1186/s12879-021-06849-3. PMID: 34781895Free PMC Article
Yu WH, Chen LW, Wang ST, Tu YF, Huang CC
Brain Dev 2019 Nov;41(10):854-861. Epub 2019 Jul 17 doi: 10.1016/j.braindev.2019.07.004. PMID: 31326153
Vigil KJ, Salazar L, Hasbun R
AIDS Patient Care STDS 2018 Feb;32(2):42-47. doi: 10.1089/apc.2017.0286. PMID: 29432047Free PMC Article
Shrikanth V, Salazar L, Khoury N, Wootton S, Hasbun R
Int J Infect Dis 2015 Oct;39:39-43. Epub 2015 Aug 21 doi: 10.1016/j.ijid.2015.08.001. PMID: 26299186Free PMC Article

Recent systematic reviews

Wang M, Wang Z, Zhang S, Zhang L, Zhao J, Wang Q, Tian X, Li M, Chiganer EH, Zeng X
Autoimmun Rev 2022 Feb;21(2):102996. Epub 2021 Nov 16 doi: 10.1016/j.autrev.2021.102996. PMID: 34798313
Meena DS, Kumar D, Bohra GK, Kumar G
Infect Dis Now 2021 Nov;51(8):654-660. Epub 2021 May 5 doi: 10.1016/j.idnow.2021.04.002. PMID: 33964485
Haile-Mariam T, Laws E, Tuazon CU
Clin Infect Dis 1994 Apr;18(4):553-6. doi: 10.1093/clinids/18.4.553. PMID: 8038309

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