Sengers syndrome: a rare case of cardiomyopathy combined with congenital cataracts in an infant: post-mortem case report.
Sengers syndrome is a rare autosomal recessive disorder caused by a mutation in the Acylglycerol Kinase (AGK) gene with subsequent mitochondrial dysfunction. It is a combination of cardiomyopathy, skeletal myopathy, congenital bilateral cataracts, and lactic acidosis following exertion. The current study describes an extremely rare case of Sengers syndrome that is diagnosed during post-mortem examination. A four-month-old female child underwent sudden cardiac arrest immediately following the induction of general anesthesia for lens extraction surgery. This infant was the first child born to healthy, non-consanguineous, Egyptian parents. There were unremarkable medical problems either during pregnancy or during delivery. This infant was born at term with a normal APGAR score and weight. She had congenital bilateral cataracts since birth, easily-fatigued, and delayed milestones for her age. A post-mortem examination revealed a hypertrophied heart that weighed 96.6 grams with left ventricular hypertrophy. The left ventricle free wall thickness was 1cm, and an interventricular septum thickness of 1.3 cm. Histopathologically, the myocardium showed myocytes disarray. Also, the myocytes were hypertrophied, and vacuolated. The Gömöri trichrome stain revealed vacuolated cardiomyocytes surrounded by collagenous connective tissue, and the Periodic Acid Schiff (PAS) stain excluded that these vacuolations were related to glycogen storage disease. Focal lymphocytic infiltrations were observed within the myocardium. Thus, Sengers syndrome should be taken into consideration as a possible diagnosis whenever a congenital cataract is present for clinical and medicolegal cases.
['Fnon|Nora Fawzy|NF|', 'Hassan|Hanan Hosney|HH|', 'Ali|Hazem Mahmoud|HM|', 'Sobh|Zahraa Khalifa|ZK|']
Sengers syndrome Cardiomyopathy Congenital cataract Myopathy Ventricular hypertrophy