HUGHES-STOVIN SYNDROME

A 37-year-old female with multiple pulmonary aneurysms, thrombotic obstruction of the inferior vena cava and mural thrombosis in the right heart was reported. Arterial blood culture repeatedly examined had been negative. The patient died of massive hemoptysis. This case was equivalent to Hughes-Stovin syndrome and was the first female case of typical Hughes-Stovin syndrome.
Review of the literature revealed 9 typical cases of this syndrome and 5 atypical cases who had solitary intrapulmonary aneurysm. It was obscure whether the typical cases were essentially different from the atypical ones or not, but the cases with solitary pulmonary aneurysm might proceed to the cases with multiple ones, as shown in this case.
Pathogenesis of the syndrome has been controversial. In the present case, development of pulmonary aneurysms seemed to be closely related to thromboembolization derived from venous thrombosis due to artificial abortion.     

ALAGILLE'S SYNDROME

A male case of Alagille's syndrome associated with a hamartomatous nodule of the liver is described. The patient developed jaundice soon after birth, and was diagnosed as the syndrome with signs such as paucity of the intrahepatic bile ducts, pulmonary stenosis and embryotoxon in the cornea at 15 years of age. The liver was examined in recurrent biopsies and other tests. However, no evidence of liver cirrhosis was confirmed until his 15th year. The patient died of hepatic dysfunction when he was 17 years old. At autopsy, a large hamartomatous nodule was found in the liver showing biliary cirrhosis. Morphology of the nodule resembled that of focal nodular hyperplasia. Abnormalities of the large vessels were noted around the liver. Vascular abnormalities were also seen in the mass. The relation of these vascular abnormalities to etiological background of the syndrome and occurrence of the nodular lesion is discussed.     

ASPLENIA AND POLYSPLENIA SYNDROME

This report described the morphological characteristics of seven cases of asplenia syndrome and three of polysplenia syndrome. Each syndrome has been characterized by a tendency for symmetric development of normally asymmetric organs, with varying degrees of cardiovascular anomalies. These latter anomalies are usually present in asplenia syndrome to a greater extent than in polysplenia syndrome. While, as observed in our material, the conotruncal anomalies were present more commonly in cases with asplenia, and absence of inferior vena cava with azygos continuation was seen specifically in all the cases with polysplenia. This evidence implied the presence of some pathogenetic distinction between the two syndromes. ACTA PATHOL. JPN. 32: 505∼511, 1982.     

CEREBRO-HEPATO-RENAL SYNDROME OF ZELLWEGER

An autopsy case of cerebro-hepato-renal syndrome of Zellweger, which occurred in a 14-year-old Japanese girl, is reported. The autopsy revealed widely distributed cystic changes in addition to renal blastema of both kidneys, and the liver was cirrhotic. The case was complicated by anomalies such as high forehead, strabismus, and partial defect of chorioidea. So far there have been only 10 reported cases of cerebro-hepato-renal syndrome of Zellweger in Japan.     

PINEAL CHANGE IN REESE'S SYNDROME

Two autopsy cases of Reese's syndrome showing conspicuous retinal dysplasia are reported. Stress Is laid on pineal changes seen in both, one of which was severe devastation assumed to be hypoplasia and the other was inability of its identification at autopsy being explained as aplasia or severe hypoplasia of this particular organ.
Anomalous changes of various degrees have been reported to exist not rarely in various organs including the central nervous system in this syndrome, but the most constant and important one is believed to be retinal dysplasia frequently associated with microphthalmia. On the other hand, the pineal gland is said to be closely related to the eye, which fact seems to have been already accepted with lower animals but only postulated, although with considerable reasonability, in higher animals. Our hypothesis is that the pineal hypoplasia of our cases may not have occurred simultaneously by chance, but, may have resulted from close relation to their ocular hypoplasia.
The moot phenomenon, pineal change in Reese's syndrome, should be confirmed in other cases before being established, and should this be accepted, it would be adequate to add pineal hypoplasia as another Important finding of Reese's syndrome.     

DOWN'S SYNDROME AND INTELLECTUAL DEVELOPMENT

The results of the developmental assessment of nine Down's infantsare very similar to previous evaluations of Down's infants.Since developmental age and chronological age are very negativelycorrelated, the supposition is that at some point in time theDown's infant is not so retarded. Current and past evaluationssupport this view. The onset of developmental delay in Down'sseems to occur at 4-6 months of age, the age when most infantsshow a shift from subcortical to cortical control of behavior.     

PATHOLOGICAL STUDY ON BANTI'S SYNDROME

The liver and spleen of forty-three autopsy and eighty-one operated cases with Banti's syndrome and the control cases were examined histopathologically and histometrically, and the obtained results are summerized as follows.
There were flbrosis, cirrhosis and schistosomiasis of liver in Banti's syndrome. Nearly two-thirds of the cases showed liver fibrosis.
In all the cases of liver fibrosis with Banti's syndrome, the diameter-ratio of intrahepatic portal vein and hepatic artery in the aame periportal area was smaller than that of the control. Additional thrombosis of fibrously thickened stenotic portal vein was observed in intrahepatic as well as extrahepatic.
Definite contribution of biliary diseases, especially cholangitis, to thickening and stenosis of the portal veins, especially in the peripheral portion was emphasized.
Histopathologically, the spleens showed severer changes of splenic tissues in Banti's syndrome than those in cirrhosis of liver and cardiac diseases.
Histometrical examinations of the spleena with Banti'a syndrome revealed increase in total of all tissue elements, especially red pulp, which was composed of increased total pulp cords and sinuses with smaller sectional areas.
Three dimensional structure of the sinuses of the Banti's spleens revealed a more complicated structure, more anastomosis and blindly ended sinuses than that with cirrhosis of liver.     

A CASE OF ALPORT'S SYNDROME

A 19-year-old female belonging to a family of Alport's syndrome was autopsied and her kidneys were examined in detail light and electron microscopically. The basement membrane was examined chiefly and the laminated thickening and/or splitting, looseness, irregularity and rail-like appearance of lamina densa were found in the glomerular, Bowman's capsular, tubular and interstitial capillary basement membranes. These findings were strongly suggestive of Alport's syndrome, whether or not the particles are seen in the basement membrane. In addition, Japanese reports on Alport's syndrome (total 48 families) were summarized and renal lesions were examined in comparison. It has been said that the prognosis is worse in the male than in the female, but according to our Investigation on case reports in Japan, the prognosis showed no difference between male and female.     

CRONKHITE-CANADA SYNDROME ASSOCIATED WITH SIGMOID CANCER

The case of a 78-year-old man with the characteristic clinical and pathologico-anatomic pictures of the Cronkhite-Canada syndrome associated with sigmoid cancer is reported. He died ten months after the onset of his diseaee. Autopsy Andings of the patient are described in detail. The other fifty three cases of the syndrome are reviewed, and clinical and pathologico-anatomic features of the Cronkhite-Canada syndrome are discussed.     

TWO AUTOPSY CASES OF REYE'S SYNDROME

Autopsies were carried out on a ten-month old male and another 7-year-old boy who died within a few days after showing slight upper respiratory infection as a prodromal symptom, followed by vomiting, disturbances of consciousness and high fever. Both of these cases showed high transaminase levels, accompanied by low blood sugar, and patho-anatomically, they had marked fatty degeneration of the liver and kidneys, and remarkable edema of the brain. The lung showed a slight inflammation of the interstitiums. Only mild inflammation was found in the intestines.
These clinical and pathological findings coincide with the conception of Reye's syndrome, and some discussions have been made about the differentiation between Reye's syndrome and those closely resembling this syndrome. ACTA PATH. JAP. 20: 251–259, 1970.