Turkish Journal of Hematology Volume: 35 - Issue: 4

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IMAGES IN HEMATOLOGYDOI: 10.4274/tjh.2017.0142Turk J Hematol 2018;35:296-297Acanthocytosis and HyperCKemiaAkantositoz ve Kreatin Kinaz YüksekliğiUluç Yiş 1 , Kerstin Becker 2,3 , Şebnem Yılmaz 4 , Sebahattin Çırak 2,31Dokuz Eylül University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, İzmir, Turkey2University Hospital Cologne, Department of Pediatrics, Cologne, Germany3University of Cologne, Center for Molecular Medicine Cologne, Cologne, Germany4Dokuz Eylül University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Hematology, İzmir, TurkeyFigure 1. Peripheral blood smear of the patient showing acanthocytosis.A 14-year-old boy was referred to the neuromuscular clinicfor the investigation of hyperCKemia (serum creatinine kinase:4000 IU/L; normal range: 0-170), detected during laboratoryexaminations. He was the first child of consanguineous parents.His psychomotor development was normal and he had no pastsymptoms of a neuromuscular disease. Detailed history takingdid not reveal any signs of involuntary movements, bradykinesia,or social problems. Neurologic examination showed normalmuscle power in the upper and lower extremities and no signsof muscle atrophy. Deep tendon reflexes could not be elicited.Nerve conduction studies were normal but electromyographyrevealed combined neurogenic and myogenic potentials in thelower extremity muscles. A muscle biopsy did not show anypathology and was interpreted as normal. Targeted customizedMendeliome panel [1] next-generation sequencing revealed ahomozygous splice site mutation in the vacuolar protein sortingassociatedprotein (VPS13A), NM_015186.3, c.6095+1G>C.HyperCKemia is a condition characterized by elevatedlevels of the enzyme creatinine kinase in the blood. Chorea-©Copyright 2018 by Turkish Society of HematologyTurkish Journal of Hematology, Published by Galenos Publishing HouseAddress for Correspondence/Yazışma Adresi: Uluç YİŞ, M.D.,Dokuz Eylül University Faculty of Medicine, Department of Pediatrics, Division of Child Neurology, İzmir, TurkeyE-mail : ulyis@yahoo.com ORCID-ID: orcid.org/0000-0001-8355-141Received/Geliş tarihi: April 04, 2017Accepted/Kabul tarihi: May 16, 2017296
Turk J Hematol 2018;35:296-297Yiş U, et al: Acanthocytosis and HyperCKemiaacanthocytosis is an autosomal recessive disease caused bymutations in the VPS13A gene, which encodes the proteinchorein. The disease is characterized by chorea, dystonias mainlyinvolving the face, parkinsonism, vocal tics, epilepsy, socialdisinhibition, and distal muscle wasting. The mean age of onsetis 35 years [2]. Neuropsychiatric symptoms are also commonand may precede movement disorders. Acanthocytes usuallyconstitute 5% to 50% of circulating red blood cells. They mayalso be absent or may appear late in the course of the disease[3]. Most patients have elevated serum creatinine kinase levelsbut the cause of this creatinine kinase elevation is unknown.Nerve conduction studies may be normal, but may showsensory axonal neuropathy in some cases. Electromyographymay show myogenic or neurogenic potentials. Retrospectively,after the genetic diagnosis, we could confirm the presenceof acanthocytes (Figure 1). Our patient had no neurologicalcomplaints and no neurological abnormalities. Thus, peripheralblood smears may give important diagnostic clues in casesof idiopathic hyperCKemia. Whole exome sequencing isalso a preferable diagnostic modality in cases of idiopathichyperCKemia, but there are challenges in the counseling ofthe family in a clinically asymptomatic case in the context of aprogressive neurologic disorder.AcknowledgementSebahattin Çırak is funded by the DFG Emmy Noether Award.Keywords: Acathocytosis, Elevated creatine kinase, MusclediseaseAnahtar Sözcükler: Akantositoz, Kreatin kinaz yüksekliği, KashastalığıConflict of Interest: The authors of this paper have no conflictsof interest, including specific financial interests, relationships,and/or affiliations relevant to the subject matter or materialsincluded.References1. Haliloglu G, Becker K, Temucin C, Talim B, Küçükşahin N, Pergande M,Motameny S, Nürnberg P, Aydingoz U, Topaloğlu H, Cirak S. RecessivePIEZO2 stop mutation causes arthrogryposis with distal muscle weakness,scoliosis and proprioception defects. J Hum Genet 2017;62:239-242.2. Jung HH, Danek A, Walker RH. Neuroacanthocytosis syndromes. Orphanet JRare Dis 2011;6:68-76.3. Sorrentino G, De Renzo A, Miniello S, Nori O, Bonavita V. Late appearanceof acanthocytes during the course of chorea-acanthocytosis. J Neurol Sci1999;163:175-178.297
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