MORPHOLOGICAL AND BIOCHEMICAL STUDIES OF A CASE OF MUCOPOLYSACCHARIDOSIS II (HUNTER'S SYNDROME)

An autopsy case of a 19-year-old boy who had shown typical gargoyle features, strictly consistent with mucopolysaccharidosis type II (Hunter's syndrome) was reported. Histologically, cytoplasmic vacuolar change was found In hepatocytes, sinusoidal epithelium of spleen, follicular cells of thyroid, Sertoli cells of testis, chromophobe cell of pituitary and generalized fibroblast-like cells including meninges, cardiac valve and periosteum. The vacuoles consisting of membrane-bound structures with flocculus protein-like material and occasional electron dense bodies on electron microscopy, were considered to be the site of mucopolysaccharide deposition by histochemical analysis. Deposition of lipid material consistent with so-called membranous cytoplasmic body was observed in the neurons of central, peripheral and autonomic nervous system. Hepatosplenomegaly could be explained by cytoplasmic deposition, but the cause of cardiomegaly remained further to be studied. Biochemically hepatic mucopolysaccharide was identified as heparan sulfate, while in the kidney dermatan sulfate and heparan sulfate were detected. The correlation between morphology and biochemistry, and between deposition and degeneration was discussed.     

Multiple epithelial cysts of the spleen and on the splenic capsule, and high serum levels of CA19-9, CA125 and soluble IL-2 receptor

An 18-year-old woman with abdominal pain was diagnosed as having splenic cysts by computed tomography scan. She had high serum levels of CA19-9 (2886.8 U/mL; normal value, <35 U/mL), CA125 (131.1 U/mL; normal value, <35 U/mL) and soluble IL-2 receptor (1490 U/mL; normal range, 220-530 U/mL). The resected spleen weighed 1050 g, was 14 x 28 cm, and had more than 10 macroscopic cysts up to 10.3 x 9.5 cm. There were numerous microscopic cysts in the spleen and several on the splenic capsule. The levels of CA19-9 and CA125 in the cyst fluid were 2165550 U/mL and 160400 U/mL, respectively. After the surgery, the serum levels of the tumor markers decreased gradually. The inside of the largest cyst was mainly covered by granulation tissue with a focal lining of epithelial cells, and the other macroscopic cysts had stratified squamous epithelium. The microscopic splenic cysts and cysts on the splenic capsule were lined by either attenuated single-layered or multilayered epithelial cells. The lining epithelial cells of these cysts were positive for epithelial membrane antigen and cytokeratins. CA19-9 and CA125 were detected in the lining cells of the splenic cysts. In the present case, it is suspected that the splenic cysts were derived from the capsular lining cells that showed migration from the capsule or formed microcysts on the splenic capsule, as in the case of ovarian inclusion cysts.     

Distribution of metastatic lymph nodes in colorectal cancer by the modified clearing method

PURPOSE: The aim of this study was to clarify the distribution of lymph node metastasis in colorectal cancer. We also examined the relationship between the primary tumor (T) and the regional node (N) categories of the TNM (primary tumor, regional nodes, metastasis) classification. METHOD: Lymph nodes of surgical specimens in 311 consecutive patients with colorectal cancer were studied using the modified clearing method. RESULTS: Lymph node metastasis was seen in 59.2 percent of the total cases. The upward metastasis rate was 30.7 percent. In the longitudinal spread, most of the lymph node metastasis was seen within 10 cm. On the oral side in rectal cancer, there was no metastasis beyond 4 cm. The lateral metastasis rate in rectal cancer was 8.8 percent and in the lower rectum, the rate of cancer within 6 cm from the anal verge or beyond pT3 was much higher. CONCLUSION: In the TNM classification, there was no significant difference between colon and rectal cancer except pT1 with rectal cancer. In the lower rectal cancer within 6 cm from the anal verge or beyond pT3, there is a high risk of lateral metastasis, and lateral lymph node dissection or radiation therapy should be performed.     

Granular-cell tumorlike Schwann cell degeneration in the anal sphincter of an infant suspected of having ultrashort Hirschsprung's disease

A 19-month-old girl who had a history of constipation since birth and suspected cytomegalovirus (CMV) infection was admitted. Barium enema revealed no caliber change in the colon, anorectal manometry failed to show sphincter relaxation on rectal distension, and biopsied rectal specimens contained ganglion cells. She underwent rectal myectomy, after which her symptoms improved significantly. Morphologic studies, including electron micrographs of the muscle, demonstrated nerve plexuses with degenerative Schwann cells containing abundant eosinphilic cytoplasmic granules that resembled those of a granular-cell tumor. Granular-cell tumorlike change of the plexus is an unprecedented finding in any form of Hirschsprung's disease or its allied disorders, but appears to have been responsible for her symptoms. CMV as a causative agent is also discussed with a review of the literature.     

Rapid resolution of traumatic acute subdural haematoma in the elderly

Rapid resolution of acute subdural haematoma (ASDH) has rarely been observed. Two elderly patients with rapid resolution of ASDH are described. In the present cases, it was indicated that a mechanism of rapid resolution of ASDH was attributable to cerebrospinal fluid dilution and cerebral atrophy resulting from aging.     

Does a combination treatment of repetitive transcranial magnetic stimulation and occupational therapy improve upper limb muscle paralysis equally in patients with chronic stroke caused by cerebral hemorrhage and infarction?: A retrospective cohort study

The clinical presentation of stroke is usually more severe in patients with intracerebral hemorrhage (ICH) than in those with cerebral infarction (CI); recovery of stroke-related muscle paralysis is influenced and limited by the type of stroke. To date, many patients have been treated by neurorehabilitation; however, the changes in the recovery of motor paralysis depending on the type of stroke, ICH or CI, have not been established. This study aimed to determine this difference in improvement of upper extremity paralysis using 2-week in-hospital NovEl intervention Using Repetitive transcranial magnetic stimulation combined with Occupational therapy (NEURO).We scrutinized the medical records of all patients with poststroke (ICH or CI) upper extremity muscle paralysis using Fugl-Meyer assessments (FMAs) who had been admitted to 6 hospitals between March 2010 and December 2018 for rehabilitation treatment. This was a multiinstitutional, open-label, retrospective cohort study without control patients. We evaluated the effects of NEURO on patients with CI and ICH by dividing them into 2 groups according to the type of stroke, after adjustment for age, sex, dominant hand, affected hand side, time since stroke, and prediction of recovery capacity in the upper extremity.The study included 1716 (CI [n = 876] and ICH [n = 840]) patients who had undergone at least 2 FMAs and had experienced stroke at least 6 months before. The type of stroke had no effect on the outcomes (changes in the FMA-upper extremity score, F_[4,14.0] = 2.05, P = .09, partial η² = 0.01). Patients from all 5 groups equally benefited from the treatment (improvement in FMA scores) according to the sensitivity analysis-stratified analysis (F = 0.08 to 1.94, P > .16, partial η² < 0.001).We conclude that NEURO can be recommended for chronic stroke patients irrespective of the type of stroke.