Biomedical subjects
Publications and source records attributed to Y Hashida.
Two infants with thrombosis of the abdominal aorta are discussed. In each case the presentation was indistinguishable from that in coarctation of the aorta, with heart failure and absent femoral pulses. Surgery in one infant successfully relieved the obstruction. The diagnosis may not be suspected from the history. Aggressive management is indicated.
The temporal bone histopathologic condition of a 9-year-old patient with unilateral congenital facial palsy and an auricular anomaly is described. The major pathologic findings were an extremely underdeveloped facial nerve, abnormal course of the facial nerve, an abnormally large middle ear artery that was suspected to be a persistent stapedial artery, absence of a pneumatized tympanic cavity, a severe ossicular anomaly, and an enlarged Eustachian tube. We believe that this child had a severe type of developmental anomaly of the middle ear, possibly caused by changes that occurred in early embryonal life. We reviewed the literature for similar cases in which the facial nerve is anomalous. We present a classification of such anomalies in the temporal bone in this case and in eight others and discuss the clinical implications of such anomalies.
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We describe the detailed clinical, pathologic, and biochemical features of brother and sister with the neonatal onset form of adrenoleukodystrophy, together with evidence of the biochemical defect. When compared with reports of previous cases, it becomes clear that this is a newly described clinical entity with remarkable uniformity of signs and very different from the usual childhood form. Some pathologic features are shared, including the morphologic abnormality of the adrenal in both neonatal and childhood forms, but deposition of abnormally metabolized lipids is more systemic and widespread in the neonatal form. The biochemistry of the disease is presented in both children and parents. Plasma values of long-chain fatty acid C26:0 are 0.328 +/- 0.18 micrograms/ml in a control population and 0.381 +/- 0.312 micrograms/ml in the father and mother. Values for C26:0 in the plasma of childhood adrenoleukodystrophy are 1.62 +/- 0.87 micrograms/ml and in our two cases, 2.79 micrograms/ml in the male, 1.83 micrograms/ml in the female. The basic biochemical defect appears to be a diminished capacity to oxidize these fatty acids leading to accumulation in cholesterol esters. Fatty acid oxidation to CO2 by cultured skin fibroblasts was 51% of control value for stearic acid, 5% for lignoceric acid in the male, and 39% of control value for stearic acid, 5% for lignoceric acid in the female. The genetics of this disease is different; whereas childhood adrenoleukodystrophy is X-linked, the neonatal onset form affects males and females equally and is most probably autosomally recessive in inheritance.
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The prevalence of focal dysplastic lesions of acinar cells in the pancreata of autopsied children and adults was compared. The lesions were recognized in sections stained with hematoxylin and eosin because acinar cells forming islet-sized foci or larger nodules contained one or more of the following cytologic abnormalities: reduced cytoplasmic basophilia, reduced cytoplasm, reduced zymogen, cytoplasmic vacuoles, or nuclear abnormalities. Lesions were found in only 1 patient (age, 7 yr) of 170 patients whose ages ranged from birth to 9 years, whereas 7 of 49 patients 10-19 years old had focal acinar cell dysplasia. The prevalence of such lesions among adults was comparable to that encountered in individuals during the second decade of life and distinctly higher than that found among children during the first decade. Six of the 8 children in whom dysplastic acinar cell foci were found had cancers in other tissues that had been treated by chemotherapy. The data are consistent with the interpretation that dysplastic acinar cell lesions in the pancreas are acquired.
Pancreas from 10 children with idiopathic hyperinsulinemic hypoglycemia was examined using histochemical and immunostaining techniques. The children ranged from newborn to 9 months in age. Sections were studied with particular reference to islet cell distribution in patients and controls, and quantitative assessments were made of islet size, relative cell-type distribution, and total area of pancreas occupied by endocrine tissue. Four had islet cell adenomatosis, three of these focal and one generalized. The others had a subtle morphologic abnormality seen best on immunostained sections and characterized by loss of the usual centrilobular congregation, irregular islet contours, a generalized of small packets of endocrine cells throughout the acinar tissue, and islet cell hypertrophy. We have termed this constellation "endocrine cell dysplasia." The range of islet cell area found in the controls using immunostaining was substantially higher than previously reported. In addition, we found no increase in mean total endocrine area in the cases with endocrine dysplasia when compared to age-matched controls. Both classic and beta-cell nesidioblastosis were common to patients and controls alike, appeared to decrease with age, and thus could not be considered as the morphologic substrate of hyperinsulinism in this age group.
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Three siblings, devoid of hair at birth, had an unusual autosomal recessive disorder characterized by universal congenital alopecia, microcephaly, seizures, psychomotor retardation, and severe growth failure. Metabolic and chromosome studies were normal. Skin biopsies disclosed immature hair follicles, some of which were filled with keratotic material but had no hair shafts. Neuropathologic features included cerebral cortical hypoplasia, neuronal depletion, and microcalcifications. The familial occurrence of universal congenital alopecia conjoined with nonprogressive central nervous system abnormalities in this and other kindreds defines a nosologic group of neurocutaneous disorders in which congenital alopecia is the solitary cutaneous manifestation.