Metabolic Strokes in Propionic Acidemia: Transient Hemiplegic Events Without Encephalopathy

Overview

Journal Child Neurol Open

Specialty Neurology

Date 2019 Sep 17

PMID 31523698

Citations 4

Authors

Mohammed AlMuqbil

Jeffrey M Chinsky

Siddharth Srivastava

Affiliations

Soon will be listed here.

Abstract

Metabolic strokes are a notable feature associated with acute catabolic crises in patients with propionic acidemia. Despite their importance, these events are not well characterized. Here, we present the clinical history of a patient with propionic acidemia who developed 5 episodes of acute hemiparesis between 3 and 11 years of age. The clinical finding of hemiparesis associated with 4 of these 5 events were shorted lived (2-5 days). Neuroimaging showed signal changes in the basal ganglia manifesting many years following the initial episode. Two of the episodes were accompanied by definite seizures. Based on these factors, the hemiparetic events were most consistent with metabolic strokes, though what is distinctive is that most of the events occurred without evidence of metabolic decompensation; brain magnetic resonance imaging findings were not suggestive in the acute setting. We present a framework for evaluating suspected metabolic stroke in propionic acidemia, in light of the sometimes perplexing clinical heterogeneity underlining these events.

Citing Articles

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Neuroimaging of Basal Ganglia in Neurometabolic Diseases in Children.

Paprocka J, Machnikowska-Sokolowska M, Gruszczynska K, Emich-Widera E Brain Sci. 2020; 10(11).

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References

Nyhan W, Bay C, Beyer E, Mazi M . Neurologic nonmetabolic presentation of propionic acidemia. Arch Neurol. 1999; 56(9):1143-7. DOI: 10.1001/archneur.56.9.1143. View

Pavlakis S, Kingsley P, Bialer M . Stroke in children: genetic and metabolic issues. J Child Neurol. 2000; 15(5):308-15. DOI: 10.1177/088307380001500507. View

Burlina A, Baracchini C, Carollo C, Burlina A . Propionic acidaemia with basal ganglia stroke: treatment of acute extrapyramidal symptoms with L-DOPA. J Inherit Metab Dis. 2002; 24(5):596-8. DOI: 10.1023/a:1012471928628. View

Scholl-Burgi S, Haberlandt E, Gotwald T, Albrecht U, Baumgartner Sigl S, Rauchenzauner M . Stroke-like episodes in propionic acidemia caused by central focal metabolic decompensation. Neuropediatrics. 2009; 40(2):76-81. DOI: 10.1055/s-0029-1231065. View

Broomfield A, Gunny R, Prabhakar P, Grunewald S . Spontaneous rapid resolution of acute basal ganglia changes in an untreated infant with propionic acidemia: a clue to pathogenesis?. Neuropediatrics. 2011; 41(6):256-60. DOI: 10.1055/s-0031-1273720. View

Davison J, Davies N, Wilson M, Sun Y, Chakrapani A, McKiernan P . MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation. Orphanet J Rare Dis. 2011; 6:19. PMC: 3113316. DOI: 10.1186/1750-1172-6-19. View

Karall D, Haberlandt E, Schimmel M, Schocke M, Gautsch K, Albrecht U . Cytotoxic not vasogenic edema is the cause for stroke-like episodes in propionic acidemia. Neuropediatrics. 2011; 42(5):210. DOI: 10.1055/s-0031-1287772. View

Sutton V, Chapman K, Gropman A, MacLeod E, Stagni K, Summar M . Chronic management and health supervision of individuals with propionic acidemia. Mol Genet Metab. 2011; 105(1):26-33. DOI: 10.1016/j.ymgme.2011.08.034. View

Schreiber J, Chapman K, Summar M, Mew N, Sutton V, MacLeod E . Neurologic considerations in propionic acidemia. Mol Genet Metab. 2011; 105(1):10-5. DOI: 10.1016/j.ymgme.2011.10.003. View

10.

Grunert S, Mullerleile S, De Silva L, Barth M, Walter M, Walter K . Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. Orphanet J Rare Dis. 2013; 8:6. PMC: 3568723. DOI: 10.1186/1750-1172-8-6. View

11.

Shigematsu Y, Mori I, Nakai A, Kikawa Y, Kuriyama M, Konishi Y . Acute infantile hemiplegia in a patient with propionic acidaemia. Eur J Pediatr. 1990; 149(9):659-60. DOI: 10.1007/BF02034758. View

12.

Baumgartner M, Horster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman K . Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis. 2014; 9:130. PMC: 4180313. DOI: 10.1186/s13023-014-0130-8. View

13.

Wolf B, HSIA Y, Sweetman L, GRAVEL R, Harris D, Nyhan W . Propionic acidemia: a clinical update. J Pediatr. 1981; 99(6):835-46. DOI: 10.1016/s0022-3476(81)80004-2. View

14.

North K, Korson M, Gopal Y, Rohr F, BRAZELTON T, Waisbren S . Neonatal-onset propionic acidemia: neurologic and developmental profiles, and implications for management. J Pediatr. 1995; 126(6):916-22. DOI: 10.1016/s0022-3476(95)70208-3. View

15.

Gascon G, Ozand P, BRISMAR J . Movement disorders in childhood organic acidurias. Clinical, neuroimaging, and biochemical correlations. Brain Dev. 1994; 16 Suppl:94-103. DOI: 10.1016/0387-7604(94)90102-3. View

16.

Haas R, Marsden D, Hamilton R, Grafe M, Wong W, Nyhan W . Acute basal ganglia infarction in propionic acidemia. J Child Neurol. 1995; 10(1):18-22. DOI: 10.1177/088307389501000104. View