Clinico-pathological findings in a patient with progressive cerebellar ataxia, autoimmune polyendocrine syndrome, hepatocellular carcinoma and anti-GAD autoantibodies.
OBJECTIVE
To report clinical and pathological findings of a patient with late onset insulin-dependent diabetes mellitus (IDDM), progressive cerebellar ataxia (PCA) and hepatocellular carcinoma (HCC).


METHODS
A 64-year-old woman, with a long lasting IDDM, progressively developed a severe cerebellar syndrome and died 2 years after the onset of the symptoms for a systemic infection. Autoantibodies to antigastric parietal cell and anti-pancreatic islet cell resulted positive. Autopsy showed a selective loss of Purkinje cells in the cerebellum, with an increase of Bergmann glia and variable microglial proliferation; furthermore, it disclosed an HCC. GAD-Abs were detected both in serum and CSF.


CONCLUSIONS
Clinical and experimental reports suggest a possible role of neoplastic cells in producing GAD-Abs. We postulate, in our case, that HCC could have been responsible for an overproduction of GAD-Abs, leading to the onset of PCA. Thus, GAD-Abs could be considered as a paraneoplastic marker in a subgroup of patients with PCA.
Piccolo
Giovanni
G
Department of Clinical Neurology, Foundation IRCCS Neurological Institute C.Mondino, Pavia, Italy. giovanni.piccolo@mondino.it
Tavazzi
Eleonora
E
Cavallaro
Tiziana
T
Romani
Alfredo
A
Scelsi
Roberto
R
Martino
Gianvito
G
D001323:Autoantibodies / Q000032:analysis / Q000097:blood / Q000276:immunology; D006528:Carcinoma, Hepatocellular / Q000276:immunology / Q000473:pathology / Q000503:physiopathology*; D002524:Cerebellar Ataxia / Q000276:immunology / Q000473:pathology / Q000503:physiopathology*; D002531:Cerebellum / Q000276:immunology / Q000473:pathology / Q000503:physiopathology; D003922:Diabetes Mellitus, Type 1 / Q000150:complications / Q000473:pathology / Q000503:physiopathology*; D018450:Disease Progression; D017809:Fatal Outcome; D005260:Female; D005911:Gliosis / Q000276:immunology / Q000473:pathology / Q000503:physiopathology; D005968:Glutamate Decarboxylase / Q000276:immunology*; D006801:Humans; D007515:Islets of Langerhans / Q000276:immunology / Q000473:pathology; D008113:Liver Neoplasms / Q000276:immunology / Q000473:pathology / Q000503:physiopathology*; D008875:Middle Aged; D010295:Parietal Cells, Gastric / Q000276:immunology / Q000473:pathology; D016884:Polyendocrinopathies, Autoimmune / Q000150:complications / Q000473:pathology / Q000503:physiopathology*; D011689:Purkinje Cells / Q000276:immunology / Q000473:pathology; D018805:Sepsis / Q000276:immunology / Q000473:pathology / Q000503:physiopathology
D001323:Autoantibodies; D005968:Glutamate Decarboxylase