Neuronal ceroid lipofuscinosis with cardiac involvement

Česká verze

Authors: Silvia Farkašová Iannaccone ¹; Peter Vasovčák ²; Dorota Sopková ¹; Mária Pisarčíková ³; Marián Švajdler ⁴; Lucia Fröhlichová ⁵; Lucia Mistríková ⁶; Daniel Farkaš ⁷
Authors place of work: Bioptická laboratoř s. r. o., Plzeň ; Ústav súdneho lekárstva UPJŠ LF, Trieda SNP č. 1, Košice ¹; PROGENET s. r. o., Strečnianska 13, Bratislava ²; Klinika pediatrickej anesteziológie a intenzívnej medicíny, Detská fakultná nemocnica Košice, Trieda SNP 1, Košice ³; Šiklův ústav patologie, Univerzita Karlova Praha, Lékařská fakulta Plzeň, Česká Republika ⁴; Oddelenie patológie, Univerzitná nemocnica Louisa Pasteura, Rastislavova 48, Košice ⁵; Kardiochirurgické oddelenie, Východoslovenský ústav srdcových chorôb, Ondavská č. 8, Košice ⁶; Úrad pre dohľad nad zdravotnou starostlivosťou, SLaPA pracovisko, Ipeľská 1, Košice ⁷
Published in the journal: Čes.-slov. Patol., 55, 2019, No. 3, p. 176-181
Category: Původní práce

Summary

Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders with clinical presentation predominantly in the childhood. The NCLs represent lysosomal storage disorders characterized by the accumulation of autofluorescent lipopigment storage material. The most common clinical features include development failure, psychomotor regression, seizures, and progressive loss of vision. We present a case of neuronal ceroid lipofuscinosis with cardiac involvement diagnosed post-mortem in a 9,5-year-old boy, whose clinical symptomatology comprised partial epilepsy, psychomotor decline and sinus bradycardia. In contrast to ventricular hypertrophy, being more frequently associated with NCLs, we discovered cardiac atrophy. Histologic examination of the heart revealed not only the lipofuscinosis affecting cardiac conducting cells and cardiomyocytes, but also basophilic degeneration of myocardium.

Keywords:

Neuronal ceroid lipofuscinosis – NCL7/MFSD8 – bradycardia – Basophilic degeneration of myocardium

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