Cornelia de Lange syndrome with intracranial germinoma

An autopsy case of Cornelia de Lange syndrome with intracranial germinoma is reported. Clinically, the patient was diagnosed as having this syndrome at one year of age, she was found to be suffering from diabetes insipidus at 18 years of age and soon she had an accidental death. The autopsy disclosed that the tumor grew from the hypothalamus to the optic nerve and the posterior lobe of the hypophysis. Microscopically, this tumor was a germinoma with a "two cell pattern". On the other hand, examination by peroxidase-antiperoxidase complex (PAP) method of the anterior lobe of the hypophysis demonstrated that thyroid-stimulating hormone (TSH) and follicle-stimulating hormone (FSH) producing cells had decreased.