JIMD Short Report #008 (2006) Online DOI 10.1007/s10545-006-0335-7 SHORT REPORT Pericardial effusion in primary systemic carnitine deficiency Duangrurdee Wattanasirichaigoon · Pongsak Khowsathit · Anannit Visudtibhan · Umaporn Suthutvoravut · Dussadee Charoenpipop · Sook Z. Kim · Harvey L. Levy · Vivian E. Shih Received: 23 January 2006 / Accepted: 7 March 2006 C  SSIEM and Springer 2006 Summary A patient with pericardial effusion and a compli- cated presentation of primary systemic carnitine deficiency (PSCD) is described. This is the first case of PSCD re- ported to have pericardial effusion. Compound heterozy- gosity for two mutations in the SLC22A5 gene, T440M and F23del, and four SLC22A5 polymorphisms (c.IVS3+6A>G, c.−77G>A, c.−78C>T, and p.S95S) were identified in the patient. Abbreviations LDH lactic acid dehydrogenase MCT medium-chain triglycerides PSCD primary systemic carnitine deficiency VLCADD very long-chain acyl-CoA dehydrogenase deficiency Communicating editor: Michael Bennett Competing interests: None declared D. Wattanasirichaigoon () · P. Khowsathit · A. Visudtibhan · U. Suthutvoravut Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand e-mail: radwc@mahidol.ac.th D. Charoenpipop Research Center, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand S. Z. Kim Korea Genetic Research Center, Cheong Ju City, Chung Buk, Republic of Korea H. L. Levy Children’s Hospital Boston, Boston, Massachusetts, USA V. E. Shih Massachusetts General Hospital, Boston, Massachusetts, USA Primary systemic carnitine deficiency (PSCD) (McKusick 212140) is an autosomal recessive disorder characterized by early-onset hypoketotic hypoglycaemic encephalopathy, Reye-like syndrome, sudden infant death, hepatopathy, and late-onset skeletal myopathy and/or cardiomyopathy (Spiek- erkoetter et al 2003a). Carnitine transport across the plasma membrane is reduced, most severely affecting kidney, heart, skeletal muscle and small intestine (Tein 2003). It results from mutations in the SLC22A5 gene, which encodes a so- lute carrier protein OCTN2. This protein regulates carni- tine/organic cation transport. We report here a patient with this disorder confirmed by DNA and mRNA analysis. A previously healthy 8-month-old Thai girl presented with a one-day history of head dropping, episodic loss of consciousness, and tonic-clonic seizures following 3 days’ history of diarrhoea. On evaluation she had massive hep- atomegaly, elevated liver enzymes, metabolic acidosis (anion gap 23), hyperammonaemia (122 μmol/L; normal 21–50), hyperuricaemia (9.3 mg/dl; normal 2.6–6.0), normal blood glucose, and trace urinary ketones. Carnitine levels were not initially measured owing to unavailability. A previously healthy 7-year-old brother had died of rapidly progressive encephalopathy and sudden cardiac arrest following acute gastroenteritis. He had marked hepatomegaly. Her 3-year-old sister had isolated cleft lip/palate but was otherwise normal. Her parents were normal. The patient was treated with a protein-restricted diet (0.5– 0.75 gm/kg per day) on the assumption that she had a urea cy- cle disorder and she regained consciousness on day 2. How- ever, mild hyperammonaemia persisted and her liver size was increased. Liver biopsy revealed severe panlobular fatty change with micro- and macro-vesicular fat vacuoles as well as hepatic fibrosis. On day 16, the patient became lethargic with tachypnoea and pulsus paradoxus. Investigations revealed cardiomegaly Springer