Case Presentation:
A 1‐year‐old girl with multiple medical problems including trisomy 18, tetralogy of Fallot, and gastroesophageal reflux presented with a 3‐week history of fever and irritability. In addition, she had had several weeks of feeding intolerance and weight loss. Initial examination revealed a small, irritable, dysmorphic child with a holosystolic heart murmur. Abdominal examination was limited because of pacemaker placement. Initial blood pressure was as high as 130/80 mm Hg. Blood cultures grew Streptococcus viridans. The fever and bacteremia resolved with IV antibiotic therapy, but the irritability and hypertension persisted. The right thigh was then noted to be swollen and tender when manipulated, and an x‐ray of the right femur showed severe osteopenia and a femur fracture. A subsequent skeletal survey revealed diffuse osteopenia, as well as old pathologic fractures of the bilateral radii, ulnae, and ribs. Endocrinology was consulted to evaluate the osteopenia. She had mild hypothyroidism, but her parathyroid hormone, cortisol, vitamin D, and alkaline phosphatase levels were normal. The hypertension was attributed to pain from the acute fracture, but the blood pressure did not normalize despite appropriate pain management. Cardiac consultation ruled out a cardiac etiology for the hypertension. A urinalysis showed mild hematuria and proteinuria. A renal ultrasound revealed a horseshoe kidney and large abdominal mass that was later confirmed by biopsy to be hepatoblastoma.
Discussion:
Hepatoblastoma is a rare malignancy in children. However, there is an association between hepatoblastoma and chromosomal abnormalities, including trisomy 18. Hepatoblastoma commonly presents as an asymptomatic abdominal mass and hepatomegaly, but other symptoms can occur, such as anorexia, weight loss, vomiting, and abdominal pain. Osteopenia is often incidentally noted at the time of diagnosis but is not typically the presenting sign. The occurrence of pathologic fracture, as in this case, is rare. In retrospect, this patient did manifest more common signs and symptoms of hepatoblastoma. However, her gastrointestinal symptoms were initially attributed to worsening of gastroesophageal reflux, and the presence of a pacemaker in the abdomen obscured the hepatomegaly and abdominal mass.
Conclusions:
Children with chronic and complex medical illnesses are at increased risk of bone demineralization for many reasons, including abnormal growth and maturation, suboptimal nutrition, reduced physical activity, and potential glucocorticoid exposure. In addition, primary endocrine disorders or other illnesses such as malignancy may lead to osteopenia. Pediatric hospitalists caring for medically complex children need a high index of suspicion for osteopenia and, when present, pursue an aggressive and multidisciplinary diagnostic and therapeutic care plan.
Author Disclosure:
J. Maniscalco, None; M. Yunghans, None.