The Turkish Journal of Pediatrics
2010 , Vol 52 , Num 1
An unusual presentation of cardiomyopathy in a patient with microcephaly-cardiomyopathy syndrome
Departments of 1Cardiology, and 2Public Health, Mother and Child Health Care Institute, Belgrade, Serbia
We report the case of a 15-year-old male patient with microcephaly, dilated
cardiomyopathy, mental retardation, secondary hypopituitarism, and minor
dysmorphic features: downward- slanting palpebral fissures, narrow palate,
small and low-set ears, fifth finger clinodactyly, sandal gaps on both feet,
and anal stenosis. He was admitted to the pediatric intensive care unit with
signs of progressive cardiac failure. Lethal outcome occurred 25 days after
admission. Most clinical features of the patient were similar to those of the
four previously reported patients with microcephaly-dilated cardiomyopathy
syndrome, but some of this patient’s features, such as anal stenosis and
secondary hypopituitarism, were unique.
Keywords :
microcephaly-cardiomyopathy syndrome, mental retardation