First report of ectopic ACTH syndrome and PTHrP-induced hypercalcemia due to a hepatoblastoma in a child.
BACKGROUND
Only occasionally, endocrine-active tumors develop directly from hepatic tissue, and may lead to paraneoplastic syndromes (PNS). PNS mostly accompany malignancy of adulthood and are exceedingly rare in children.


METHODS
A girl aged 6 years and 9 months presented with a 2-month history of rapidly progressive weight gain, abdominal distension, and polyuria/pollakiuria accompanied by short episodes of abdominal pain. She showed the typical clinical features of Cushing's syndrome and a huge hepatic mass. An abdominal computed tomography (CT) scan revealed a large liver tumor. Blood glucose and serum calcium were greatly elevated.


OBJECTIVE
Case report describing the causative relationship of the clinical findings.


METHODS
Physical examination; ultrasound of the abdomen; CT scan of the abdomen and the chest; conventional X-rays; routine hematology; blood chemistry and multiple parameters of calcium and phosphorus metabolism; multisteroid analysis in serum and urine; adrenocortical stimulation and suppression tests; histopathological assessment of the resected tumor; immunohistochemistry for ACTH, beta-endorphin, corticotrophin-releasing hormone (CRH), and PTH-related peptide (PTHrP); electron microscopy of tumor cells; ACTH and CRH extraction from the tumor tissue; and clinical follow-up for more than 20 years.


RESULTS
Giant hepatoblastoma (HB; approximately 1000 ml volume) of the right lobe of the liver with combined ectopic ACTH syndrome and PTHrP-induced tumor-associated hypercalcemia. Wide local excision and polychemotherapy led to complete reversal of the paraneoplastic phenotype.


CONCLUSIONS
This is the first report of an endocrine-active HB causing both Cushing's syndrome and PTHrP-related 'humoral hypercalcemia of malignancy'. This information should be added to the well-known beta-human chorionic gonadotropin-related paraneoplastic effects of HB in children.
Department of Pediatrics, Klinikum rechts der Isar, Technische Universität München, Kölner Platz 1, D-80804 Munich, Germany.
Thomas G P
TG
Grunewald
Irene
I
von Luettichau
Ulrich
U
Welsch
Helmuth-Günther
HG
Dörr
Frank
F
Höpner
Kalman
K
Kovacs
Stefan
S
Burdach
Wolfgang
W
Rabl
D000182:ACTH Syndrome, Ectopic / Q000097:blood / Q000209:etiology* / Q000628:therapy; D002648:Child; D005260:Female; D018197:Hepatoblastoma / Q000097:blood / Q000150:complications* / Q000628:therapy; D006801:Humans; D006934:Hypercalcemia / Q000097:blood / Q000209:etiology* / Q000628:therapy; D007150:Immunohistochemistry; D008113:Liver Neoplasms / Q000097:blood / Q000150:complications* / Q000628:therapy; D044162:Parathyroid Hormone-Related Protein / Q000097:blood*
D044162:Parathyroid Hormone-Related Protein