Background: Cantu´ syndrome is rare disease characterized by characterized by congenital hypertrichosis, neonatal macrosomia, cardiomegaly and several other abnormalities. Gain-of-function mutations in either KCNJ8 or ABCC9 have been identified as the causative gene for Cantu´ syndrome. Here we report the first genetically diagnosed Cantu´ syndrome case in China and describe the full clinical features of the case.
Case: A 4-month-old Chinese female infant was transferred from a local hospital to our pediatric intensive care unit because of severe pneumonia and congenital heart disease without family history. She was born at 39+2 weeks' gestation and her birth weight was 4.6kg indicating neonatal macrosomia. A coarse face was noticed. She has flat broad nasal bridge, long philtrum (18mm) and thick lower lip vermilion. Thick scalp hair that extends onto the forehead and grows down onto the cheeks in front of the ears were observed. Her body hair, especially on the back and arms, increases. She has abundant eyebrows and curly eyelashes. Evaluations for physical growth showed body weight 6.8kg; recumbent length 66.0cm; crown-rump length 41.0cm; head circumference 41.5cm; chest circumference 43.0cm and arm span 67.0cm. Hypotonia was revealed though physical examination of nervous system. Echocardiography after hospitalization showed patent ductus arteriosus, patent foramen ovale, hypertrophied muscle bundles in the anterior wall of the right ventricle, moderate pulmonary hypertension, and left atrium and ventricular enlargement. Radiological Findings of the whole body only showed varus knee deformity. A hereditary disease was highly suspected. Then, exome sequencing was performed and a de novo heterozygote mutation in ABCC9 gene (c.3460C>T, p.R1154W) was detected. Thus, an autosomal dominant Cantu´ syndrome was diagnosed. Surgical closure of the PDA was performed for this infant.
Conclusion: To our knowledge, this is the first genetically diagnosed Cantu´ syndrome caused by point mutation in ABCC9 gene. This case broadens the ethnic diversity and clinical variety of Cantu´ syndrome.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology