Published in:
01-09-2017 | Images in Metabolic Medicine
Carnitine palmitoyltransferase 1A deficiency: abnormal muscle biopsy findings in a child presenting with Reye’s syndrome
Published in: Journal of Inherited Metabolic Disease | Issue 5/2017
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A 4-year-old girl was admitted to pediatric intensive care unit due to Reye’s syndrome. Her medical history was notable for recurrent episodes of hypoglycemia when ill. Plasma levels of acylcarnitines and free carnitine (C0) were not remarkable, but creatine kinase (CK) level was increased (1674 U/l). A muscle biopsy was performed that showed severe and diffuse accumulation of lipid in muscle fibers (Fig. 1). Acylcarnitine profile was reviewed. Liver isoform of carnitine palmitoyltransferase IA (CPTIA) deficiency was suspected because of the increased C0/ [palmitoylcarnitine (C16) + stearoylcarnitine (C18)] ratio: 2190 (normal value 266–1510). With dietary treatment, rapid and dramatic improvement was observed. Two novel variants in the CPT1A gene were found: c.627delT (severe mutation) and c.1006G > A (predicted as damaging by several bioinformatic algorithms).
Fig. 1
Muscle biopsy: a Abundant vacuoles were identified in most muscle fibers distributed throughout the sarcoplasm (H&E). b Vacuoles sometimes occupy most of the fiber (arrow) (H&E). c Vacuole contents showed positivity using the lipid imaging technique oil red O, showing a striking increase in number and size of the lipid droplets present in types I and II fibers. d Electron microscopy shows lipid accumulation between myofibrils and under the sarcolemma with ultrastructurally normal mitochondria
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