An unusual presentation of cardiomyopathy in a patient with microcephaly-cardiomyopathy syndrome.
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.
Kuburović
Vladimir
V
Departments of Cardiology, Mother and Child Health Care Institute, Belgrade, Serbia.
Vukomanović
Vladislav
V
Kosutić
Jovan
J
Rakić
Sanja
S
Kuburović
Nina
N
D000293:Adolescent; D001003:Anal Canal / Q000473:pathology; D001927:Brain Diseases / Q000175:diagnosis*; D009202:Cardiomyopathies / Q000175:diagnosis*; D003251:Constriction, Pathologic; D005260:Female; D006801:Humans; D007018:Hypopituitarism / Q000209:etiology; D008297:Male; D013577:Syndrome