COACH syndrome associated with multifocal liver tumors.
Here, we describe a 20-yr-old woman with COACH syndome (hypoplasia of Cerebellar vermis, Oligophrenia, congenital Ataxia, Coloboma, and Hepatic fibrosis) developing multiple liver lesions. Epigastric and right upper abdominal pain and lack of appetite led to clinical evaluation. Liver function tests showed an increase in transaminases and cholestatic parameters; alpha-fetoprotein was in the normal range. Ultrasound and magnetic resonance imaging examinations revealed multiple liver lesions. Histological examinations of ultrasonographically guided biopsies were consistent with regenerative hepatic nodules without features of malignant or dysplastic cells. The sizes of these tumors did not change over a period of 12 months. Our report presents the 10th case of COACH syndrome with a hitherto undescribed association with hepatic tumors.
Kirchner
Gabriele I
GI
Department of Gastroenterology, Medical School of Hannover, Germany.
Wagner
Siegfried
S
Flemming
Peer
P
Bleck
Joerg S
JS
Gebel
Michael
M
Schedel
Ingolf
I
Schüler
Andreas
A
Galanski
Michael
M
Manns
Michael P
MP
D000015:Abnormalities, Multiple; D000328:Adult; D001259:Ataxia / Q000151:congenital*; D002277:Carcinoma / Q000150:complications* / Q000473:pathology; D002531:Cerebellum / Q000002:abnormalities*; D003103:Coloboma; D005260:Female; D006801:Humans; D008607:Intellectual Disability; D008103:Liver Cirrhosis / Q000151:congenital*; D008113:Liver Neoplasms / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D013577:Syndrome