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• Vol.54 No.1
• CLINICA NEUROL, 54: 38−45, 2014
• Vol.54 No.1 contents

Case Report

Juvenile neuronal ceroid-lipofuscinosis with hypertrophic cardiomyopathy and left ventricular noncompaction: a case report

Shinya Murata, M.D.¹⁾, Mitsuru Kasiwagi, M.D.¹⁾, Takuya Tanabe, M.D.²⁾, Atsuko Ashida, M.D.¹⁾, Noriyasu Ozaki, M.D.³⁾ and Hiroshi Tamai, M.D.³⁾

¹⁾Department of Pediatrics, Hirakata City Hospital
²⁾Tanabe-Kadobayashi Children's Clinic
³⁾Department of Pediatrics, Osaka Medical College

We report a 17-year-old female with juvenile neuronal ceroid-lipofuscinosis (NCL) accompanied by hypertrophic cardiomyopathy (HCM) and left ventricular noncompaction (LVNC). Within our knowledge, this is the first reported case of juvenile NCL with LVNC, and the youngest case of HCM diagnosed by ultrasound. Juvenile NCL is a progressive hereditary disease involving multi-organ accumulation of ceroid-lipofuscin; its resulting complications require prompt attention. Due to its relative rarity, its cardiac involvement is not well known. Based on findings from this patient and related juvenile NCL cases, the risk of cardiac involvement tends to increase with age; a high frequency of ventricular hypertrophy has been reported in patients aged older than 20 years of age. Medical progress and comprehensive care have led to longer survival in patients with juvenile NCL, which likely increases the incidence of cardiac involvement. In relation to HCM in other metabolic disorders, attention should be paid to arrhythmias, including repolarization disturbances, sinus node dysfunction and ventricular tachycardia. LVNC is a cardiomyopathy characterized by prominent left ventricular trabeculae and deep intratrabecular recesses, which are associated with diastolic or systolic dysfunction, thromboembolic complications and arrhythmias. From ours and other case reports, we recommend regular follow-up of NCL patients as follows: echocardiography to estimate cardiomyopathy, Holter monitoring to identify arrhythmias, and computed tomography to detect thrombosis from both ventricles. The mechanism of the HCM and LVNC associated with juvenile NCL remains unclear. Our case requires careful follow-up. Prospective studies of the cardiac involvement in juvenile NCL are necessary to further elucidate its pathomechanism.
Full Text of this Article in Japanese PDF (5478K)

(CLINICA NEUROL, 54: 38−45, 2014)
key words: juvenile neuronal ceroid-lipofuscinosis, hypertrophic cardiomyopathy, left ventricular noncompaction

(Received: 20-May-13)