Rubinstein-Taybi syndrome with hepatoblastoma

Abstract

We report a two-year old male patient, with Rubinstein-Taybi syndrome, phenylketonuria and hepatoblastoma. The patient, GP, was the first child of a 35-year old gravida 2 para 0-0-1-0 mother. The mother has mitral valve prolapse and left conductive hearing loss secondary to abnormal ossicles. Prenatal triple marker screen indicated an increased risk for Down syndrome. Amniocentesis was declined. Fetal sonograms suspected a Dandy-Walker variant with no hydrocephalus and severe IUGR. Delivery was at thirty-two weeks gestation by emergency Cesarean section for pre-term labor and vaginal bleeding secondary to subchorionic hematoma. Apgar scores were 6/8; birth weight was 1282 g (75th centile; corrected for gestation), birth length was 38 cm (5th centile,), and OFC was 27 centimeters (5th centile; corrected). The umbilical cord had three vessels and was thick. A large PDA was diagnosed. He required a ventilator and phototherapy. EKG was abnormal with right axis deviation. Genetics consult revealed a prominent nose, pencil-like eyebrows, low-set ears, hypoplastic nipples, undescended testes, broad first digits and angulated thumbs. Hypotonia was noted. The impression was Rubinstein-Taybi syndrome. Indomethacin reduced the PDA. Newborn metabolic screening at 6 days of age showed a phenylalanine level of 8 mg/dl. Follow up level was 62.2 mg/dl at 15 days of age. He was diagnosed with classic PKU. Neopterin, biopterin and dihydropteridine reductase levels were normal. Karyotype was 46, XY. Ophthalmalogic evaluation was normal. Cranial sonograms showed no posterior fossa abnormality. MRI scan showed increased signal on the periventricular and subcortical white matter. The finding was considered nonspecific and possibly consistent with prematurity. Renal sonogram showed slightly small kidneys with mild left hydronephrosis. At two years of age GP presented with chronic constipation and feeding difficulties as well as low grade fevers and an enlarged liver. A surgical biopsy showed hepatoblastoma. Although a variety of rare tumors have been reported in individuals with Rubinstein-Taybi syndrome, this is the first report of hepatoblastoma in this condition.