{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T08:54:04Z","timestamp":1781081644602,"version":"3.54.1"},"reference-count":14,"publisher":"Georg Thieme Verlag KG","issue":"05","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Paroxysmal dyskinesias (PD) are rare movement disorders characterized by recurrent attacks of dystonia, chorea, athetosis, or their combination, with large phenotypic and genetic heterogeneity. 3-Hydroxy-isobutyryl-CoA hydrolase (HIBCH) deficiency is a neurodegenerative disease characterized in most patients by a continuous decline in psychomotor abilities or a secondary regression triggered by febrile infections and metabolic crises.<\/jats:p><jats:p>We describe two PD patients from two pedigrees, both carrying a homozygous c.913A\u2009&gt;\u2009G, p.Thr305Ala mutation in the HIBCH gene, associated with an unusual clinical presentation. The first patient presented in the second year of life with right paroxysmal hemidystonia lasting for 30\u2009minutes, without any loss of consciousness and without any triggering factor. The second patient has presented since the age of 3 recurrent exercise-induced PD episodes which have been described as abnormal equinovarus, contractures of the lower limbs, lasting for 1 to 4\u2009hours, associated with choreic movements of the hands. Their neurological examination and metabolic screening were normal, while brain magnetic resonance imaging showed abnormal signal of the pallidi.<\/jats:p><jats:p>We suggest that HIBCH deficiency, through the accumulation of metabolic intermediates of the valine catabolic pathway, leads to a secondary defect in respiratory chain activity and pyruvate dehydrogenase (PDH) activity and to a broad phenotypic spectrum ranging from Leigh syndrome to milder phenotypes. The two patients presented herein expand the spectrum of the disease to include unusual paroxysmal phenotypes and HIBCH deficiency should be considered in the diagnostic strategy of PD to enable adequate preventive treatment.<\/jats:p>","DOI":"10.1055\/s-0040-1722678","type":"journal-article","created":{"date-parts":[[2021,1,28]],"date-time":"2021-01-28T01:11:20Z","timestamp":1611796280000},"page":"410-414","source":"Crossref","is-referenced-by-count":8,"title":["Paroxysmal Dyskinesias Revealing 3-Hydroxy-Isobutyryl-CoA Hydrolase (HIBCH) Deficiency"],"prefix":"10.1055","volume":"52","author":[{"given":"Marie-Aude","family":"Spitz","sequence":"additional","affiliation":[{"name":"Service de P\u00e9diatrie 1, CHRU Strasbourg, Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guy","family":"Lenaers","sequence":"additional","affiliation":[{"name":"\u00c9quipe Mitolab, Institut MITOVASC, INSERM U1083, CNRS 6015, Universit\u00e9 d'Angers, Angers, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Majida","family":"Charif","sequence":"additional","affiliation":[{"name":"\u00c9quipe Mitolab, Institut MITOVASC, INSERM U1083, CNRS 6015, Universit\u00e9 d'Angers, Angers, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Wirth","sequence":"additional","affiliation":[{"name":"Service de Neurologie, CHRU Strasbourg, Strasbourg, France"},{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), UMR 7104 CNRS\/Unistra, INSERM U1258, Illkirch, France"},{"name":"Unit of Functional Neurosurgery, National Hospital for Neurology and Neurosurgery, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jameleddine","family":"Chelly","sequence":"additional","affiliation":[{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), UMR 7104 CNRS\/Unistra, INSERM U1258, Illkirch, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Th\u00e9r\u00e8se","family":"Abi-Warde","sequence":"additional","affiliation":[{"name":"Service de P\u00e9diatrie 1, CHRU Strasbourg, Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Meyer","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Neurop\u00e9diatrie, CHU Gui de Chauliac, Montpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Leboucq","sequence":"additional","affiliation":[{"name":"Service de Neuroradiologie, H\u00f4pital Gui de Chauliac, CHRU Montpellier, Montpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elise","family":"Schaefer","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, CHRU Strasbourg, Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathieu","family":"Anheim","sequence":"additional","affiliation":[{"name":"Service de Neurologie, CHRU Strasbourg, Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agathe","family":"Roubertie","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Neurop\u00e9diatrie, CHU Gui de Chauliac, Montpellier, France"},{"name":"INSERM U 1051, Institut des Neurosciences de Montpellier, Montpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2021,1,27]]},"reference":[{"issue":"06","key":"ref1","doi-asserted-by":"crossref","first-page":"1157","DOI":"10.1002\/mds.23765","article-title":"Paroxysmal dyskinesias","volume":"26","author":"K P Bhatia","year":"2011","journal-title":"Mov 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