Seventeen patients with ruptured hepatocellular carcinoma (HCC) underwent a hepatic resection from 1985 to 1992 at either Kyushu University Hospital or Iizuka Hospital in Japan. They all underwent elective surgical procedures except for one patient who experienced a repeated rupture during hospitalization. A comparative study between the patients with ruptured HCC and non-ruptured large HCC measuring more than 6 cm in size (n = 29) revealed that the 3-year disease-free survival rate of the ruptured HCC group was 14.5% which was worse than that of the non-ruptured group at 39.9%. There was no difference in the rates of peritoneal dissemination, distant metastasis or intrahepatic recurrence between the two groups. Regarding the intrahepatic recurrence pattern, widespread multinodular recurrence frequently occured in the ruptured patients, which was thought to be caused by the high incidence of venous invasion in the primary tumor. The intratumor pressure of the ruptured HCC appeared to be elevated and is considered to be one of the main reasons for the high incidence of venous invasion.
• A patient exhibited IgG4-related hypothalamo-hypophysitis. • Prominent high-signal areas of swelling were observed in the hypothalamus, tuber cinereum, infundibulum, and bilateral optic nerve systems. • MRI T1WI with contrast media demonstrated enhanced neurohypophysis and cystic swelling, and compressed anterior pituitary. • MRI findings improved rapidly after 4 days of steroid therapy.
To characterize the phenotype of spinocerebellar ataxia type 36 (SCA36), a novel dominant disorder (nicknamed "Asidan") caused by a hexanucleotide GGCCTG repeat expansion in intron 1 of the NOP56 gene.We investigated the clinical, genetic, and neuropathologic characteristics of 18 patients with SCA36. We performed histologic evaluation of a muscle biopsy specimen from 1 patient with SCA36, and neuropathologic evaluation of an autopsied brain from another patient with SCA36.The (GGCCTG)n expansion was found in 18 ataxic patients from 9 families. The age at onset of ataxia was 53.1 ± 3.4 years, with the most frequent symptoms being truncal ataxia (100% of patients), ataxic dysarthria (100%), limb ataxia (93%), and hyperreflexia (79%). Tongue fasciculation and subsequent atrophy were found in 71% of cases, particularly in those of long duration. Skeletal muscle fasciculation and atrophy of the limbs and trunk were found in 57% of cases. Lower motor involvement was confirmed by EMG and muscle biopsy. The neuropathologic study revealed significant cerebellar Purkinje cell degeneration with obvious loss of lower motor neurons. Immunohistochemical analysis showed that NOP56 was localized to the nuclei of various neurons. Cytoplasmic or intranuclear inclusion staining of NOP56, TDP-43, and ataxin-2 was not observed in the remaining neurons.This is the first description of the unique clinical features of SCA36, a relatively pure cerebellar ataxia with progressive motor neuron involvement. Thus, SCA36 is a disease that stands at the crossroads of SCA and motor neuron disease.
