A case report of PRRT2 mutation-associated familial convulsions with paroxysmal choreoathetosis syndrome
DOI:
https://doi.org/10.14739/2310-1210.2019.6.186722Keywords:
seizures, glucose transporter type I, childrenAbstract
Diagnostics and differential diagnostics of inherited metabolic diseases in children have still been complicated. The diagnostic difficulties are due to the fact that the diseases are orphan and their recognition is not always timely.
Objective. To improve the diagnosis of familial convulsions with paroxysmal choreoathetosis syndrome caused by the PRRT2 gene mutation based on a comparison with glucose transporter type I deficiency syndrome (Glut1 Deficiency Syndrome).
Materials and methods. The clinical case of PRRT2 mutation-associated familial convulsions with paroxysmal choreoathetosis syndrome was recognized based on own observations in the process of differential diagnostics with the Glut1 Deficiency syndrome. The patient received inpatient treatment in the Kyiv City Pediatric Clinical Hospital No 1.
Results. The main clinical symptoms of PRRT2 mutation-associated familial convulsions with paroxysmal choreoathetosis syndrome and clinically similar diseases, in particular Glut1 Deficiency syndrome, include attacks of seizures, movement disorders: paresis, plegia, paroxysmal dyskinesias, ballismus, tremor, athetosis, dystonia, and ataxia. It has been shown that attacks of seizures, paroxysmal choreoathetosis, hypoglycemia and hypoglycorrhachia episodes are common for these syndromes. The importance of anamnestic data analysis, results of clinical and genetic testing for differential diagnostics between similar inherited syndromes has been established.
Conclusions. Differential diagnostics of movement disorders accompanied by attacks of seizures in patients includes clarifying the etiology. Therefore, additional paraclinical methods for diagnosis identification have to be prescribed after child’s clinical examination. The differential diagnosis between PRRT2 mutation-associated familial convulsions with paroxysmal choreoathetosis syndrome and Glut1 Deficiency syndrome is particularly relevant in case of hypoglycemia and hypoglycorrhachia. Anamnestic data analysis, clinic examination and genetic results assessment are necessary to confirm a correct diagnosis.
References
Ajkardi, Zh., & Ganefeld, F. (2013). Nasledstvennye degenerativnye zabolevanija [Hereditary degenerative diseases]. Ajkardi, Zh., Baks, M., Gillberg, K. (Eds). Diseases of the Nervous System in Childhood. (3rd ed.). Moscow, pp. 360-420. [in Russian].
Emily de los Reyes. (2012). Neurodevelopmental disorders. Manual of Pediatric Neurology. P. Weisleder. (Ed). New Jersey, pp. 81-87. doi: https://doi.org/10.1142/7914
Ebbink, B., Poelman, E., Plug, I., Lequin, M., van Doorn, P., & Aarsen, F. et al. (2016). Cognitive decline in classic infantile Pompe disease: An underacknowledged challenge. Neurology, 86(13), 1260-1261. doi: 10.1212/wnl.0000000000002523
Crosiers, D., Blaumeiser, B., & Van Goethem, G. (2018). Spectrum of Movement Disorders in 18p Deletion Syndrome. Movement Disorders Clinical Practice, 6(1), 70-73. doi: 10.1002/mdc3.12707
Marques Matos, C., Alonso, I., & Leão, M. (2019). Diagnostic yield of next-generation sequencing applied to neurological disorders. Journal Of Clinical Neuroscience, 67, 14-18. doi: 10.1016/j.jocn.2019.06.041
Svystilnyk, V. O., & Konoplianko, T. V. (2015). Paroksyzmalnyi kineziohennyi khoreoatetoz u dytiachomu vitsi [Paroxysmal kinesigenic choreoatetosis in children’s age]. Sovremennaya pediatriya, 6, 119-120. [in Ukrainian].
Neuwelt, E., Bauer, B., Fahlke, C., Fricker, G., Iadecola, C., & Janigro, D. et al. (2011). Engaging neuroscience to advance translational research in brain barrier biology. Nature Reviews Neuroscience, 12(3), 169-182. doi: 10.1038/nrn2995
del Zoppo, G. (2012). Aging and the neurovascular unit. Annals Of The New York Academy Of Sciences, 1268(1), 127-133. doi: 10.1111/j.1749-6632.2012.06686.x
Iadecola, C. (2013). The Pathobiology of Vascular Dementia. Neuron, 80(4), 844-866. doi: 10.1016/j.neuron.2013.10.008
Abbott, N., Rönnbäck, L., & Hansson, E. (2006). Astrocyte-endothelial interactions at the blood-brain barrier. Nature Reviews Neuroscience, 7, 41-53. doi: 10.1038/nrn1824
Treshhinskaja, M. A., Dzjak, L. A., & Glumcher, F. S. Infuzionnaja terapija pri nevrologicheskih zabolevanijah [Infusion therapy for neurological diseases]. Glumchera, F. S., Kligunenko, E. N. (Eds). Infusion-transfusion therapy. Kiev. pp. 366-400. [in Russian].
Simpson, I., Carruthers, A., & Vannucci, S. (2007). Supply and demand in cerebral energy metabolism: the role of nutrient transporters. Journal Of Cerebral Blood Flow & Metabolism, 27, 1766-1791. doi: 10.1038/sj.jcbfm.9600521
Abi-Saab, W., Maggs, D., Jones, T., Jacob, R., Srihari, V., & Thompson, J. et al. (2002). Striking differences in glucose and lactate levels between brain extracellular fluid and plasma in conscious human subjects: effects of hyperglycemia and hypoglycemia. Journal Of Cerebral Blood Flow & Metabolism, 22, 271-279. doi: 10.1097/00004647-200203000-00004
Doege, H., Schürmann, A., Bahrenberg, G., Brauers, A., & Joost, H. (2000). GLUT8, a Novel Member of the Sugar Transport Facilitator Family with Glucose Transport Activity. Journal Of Biological Chemistry, 275, 16275-16280. doi: 10.1074/jbc.275.21.16275
Semenza, G. (2007). Oxygen-dependent regulation of mitochondrial respiration by hypoxia-inducible factor 1. Biochemical Journal, 405(1), 1-9. doi: 10.1042/bj20070389
Semenza, G. (2000). HIF-1: mediator of physiological and pathophysiological responses to hypoxia. Journal Of Applied Physiology, 88(4), 1474-1480. doi: 10.1152/jappl.2000.88.4.1474
Bruick, R. (2001). A conserved family of prolyl-4-hydroxylases that modify HIF. Science, 294(5545), 1337-1340. doi: 10.1126/science.1066373
Chavez, J., & LaManna, J. (2002). Activation of hypoxia-inducible factor-1 in the rat cerebral cortex after transient global ischemia: potential role of insulin-like growth factor-1. The Journal Of Neuroscience, 22(20), 8922-8931. doi: 10.1523/jneurosci.22-20-08922.2002
Régina, A., Morchoisne, S., Borson, N., McCall, A., Drewes, L., & Roux, F. (2001). Factor(s) released by glucose-deprived astrocytes enhance glucose transporter expression and activity in rat brain endothelial cells. Biochimica Et Biophysica Acta (BBA) - Molecular Cell Research, 1540(3), 233-242. doi: 10.1016/s0167-4889(01)00133-1
Deane, R., & Segal, M. (1985). The transport of sugars across the perfused choroid plexus of the sheep. The Journal Of Physiology, 362(1), 245-260. doi: 10.1113/jphysiol.1985.sp015674
Arsov, T., Mullen, S., Rogers, S., Phillips, A., Lawrence, K., & Damiano, J. et al. (2012). Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. Annals Of Neurology, 72(5), 807-815. doi: 10.1002/ana.23702
Dudzinska, M. (2017). Dieta w chorobach neurologicznych. Postepy w diagnostyce i leczheniu chorob ukladu nerwowego u dzieci [Progress in the diagnosis and treatment of nervous system disorders in children] Jozwiaka, S. (Ed). Lublin, pp. 143-159. [in Polish].
Ebrahimi-Fakhari, D., Moufawad El Achkar, C., & Klein, C. (2018). PRRT2-Associated Paroxysmal Movement Disorders. GeneReviews. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK475803/.
Pike, M. (2013). Opsoclonus-myoclonus syndrome. Handbook of Clinical Neurology. Pediatric Neurology Part II, 112, 1209-1211. doi: 10.1016/b978-0-444-52910-7.00042-8
Pearson, T., Pons, R., Engelstad, K., Kane, S., Goldberg, M., & De Vivo, D. (2017). Paroxysmal eye-head movements in Glut1 deficiency syndrome. Neurology, 88(17), 1666-1673. doi: 10.1212/wnl.0000000000003867
Downloads
How to Cite
Issue
Section
License
Authors who publish with this journal agree to the following terms:- Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
- Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
- Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access)
