ESPE Abstracts (2016) 86 P-P2-720

Familial Williams Syndrome

Sükriye Pinar Isgüvena, Dilek Bingöl Aydinb & Mutlu Karkucakc


aDepartment of Pediatric Endocrinology, Sakarya University School of Medicine, Sakarya, Turkey; bDepartment of Pediatrics, Sakarya University School of Medicine, Sakarya, Turkey; cSakarya University Research and Training Hospital, Medical Genetic, Sakarya, Turkey


Background: Williams Syndrome (WS) is a multisystemic genetic syndrome, which includes characteristic appearance of “elfian face”, growth retardation, mild mental retardation, hypersociality, infantile hypercalcemia, and other endocrine, cardiovascular, and urinary abnormalities. WS is caused by the microdeletion of chromosome 7q11.23; it is usually sporadic but rare autosomal dominant familial cases have been reported in the literature. We present a boy and his mother with WS.

Case report: 12-month-old boy was admitted to the pediatric clinic with complaints of fever, vomiting, constipation, and fatigue for one week. He was referred to our pediatric endocrinology clinic after laboratory results revealed hypercalcemia (calcium (Ca): 15.8 mg/dL). His weight was 7.5 kg (<3p), his height was 70 cm (75p), and his head circumference was 45 cm (10p). Physical examination revealed prominent forehead, sunken nasal bridge, long philtrum, prominent lips, and periorbital puffiness. There was 3/6 systolic murmur, which is best heard in the pulmonic valve area. After patient was admitted to the pediatric ward, hydration and intravenous furosemide treatment were initiated. On the second day of admission, serum Ca was measured 20 mg/dL and intravenous pamindronate was added to treatment. Because of infantile hypercalcemia and typical facial appearance, WS was suspected. Echocardiography revealed peripheral pulmonary stenosis. Abdominal ultrasound examination was normal. His mother’s facial appearance was similar to her son’s with prominent features of elfian face. Genetic analysis of both patient and mother revealed microdeletion of chromosome 7q11.23 which confirmed the diagnosis of Familial WS.

Conclusion: In conclusion, WS is a multi-system disorder that primarily affects the cardiovascular system. General anesthesia and sedation are risky for pediatric WS patients because of craniofacial deformities that make it challenging to open airway and increased risk of myocardial ischemia, which can frequently lead to death. Although the syndrome is rarely vertically transmitted, suspected family members should be examined for chromosomal microdeletion.

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