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Chapter
Poorly Differentiated Small Cell Tumours of the Central Nervous System that Are Not Medulloblastomas
From July 1969 to June 1979, 25 cases of non-medulloblastomatous poorly differentiated small cell tumours of the central nervous system were seen at the Royal Children’s Hospital. During the same period of tim...
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Article
Bronchial mucous glands in the newborn with cystic fibrosis
The size of bronchial mucous glands in 21 patients who presented with meconium ileus and dieds at less than three weeks of age were compared quantitatively with that of 28 control patients. There were no signi...
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Article
Congenital absence of pyramids and its significance in genetic diseases
Bilateral absence of the pyramids, best assessed in transverse sections of the medulla oblongata, was found in 0.7% of 2,850 autopsies performed at the Royal Children's Hospital, Melbourne (Australia). A stron...
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Chapter
Molecular Biology of Phenylalanine Hydroxylase
Phenylalanine hydroxylase (PH; EC 1.14.16.1) is a complex enzyme with three substrates and three activators. Little is known about the structural features which are necessary for the function of this enzyme; o...
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Article
Biliary cystadenoma in a young child
Biliary cystadenomas are rare slow-growing multiloculated lesions which arise from the liver, mainly in middle-aged females, and are occasionally complicated by malignant transformation into cystic adenocarcin...
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Article
Esophageal atresia with tracheo-esophageal fistula
A histological study was conducted on unoperated specimens from six infants with esophageal atresia and tracheo-esophageal fistula. Sub-serial sections of the distal segment showed tracheobronchial elements in...
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Article
Molecular biology of phenylalanine hydroxylase
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Article
Persistent müllerian duct syndrome with transverse testicular ectopia
A patient with the combined anomalies of persistent müllerian ducts and testicular ectopia presented with a right inguinal hernia. He represents the 14th case to be documented outside Japan. A review of the li...
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Article
Neuropathology in cerebral lactic acidosis
The neuropathology in two young infants with cerebral lactic acidosis is presented. Both cases showed microcephaly, ventricular dilatation, absent corpus callosum, absent or extremely hypoplastic pyramids, het...
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Article
Neuropathology in glutaric acidaemia type 1
The neuropathology in three cases of glutaric acidaemia type 1 is presented. All three showed extensive neuronal loss in the caudate nucleus and the putamen, with only small numbers of large neurons surviving....
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Article
Gastrointestinal polyposis in infancy and childhood
The clinical and pathological features in 12 children with symptomatic gastrointestinal polyposis are presented. Five children with Peutz-Jeghers syndrome all presented with intussusception. Three children wit...
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Article
Pulmonary haemangioma: a cause of neonatal respiratory distress
Haemangiomas are common benign skin lesions occurring in about 10% of all babies under 1 year of age. In rare cases they may be combined with haemangiomas of another area of the body. This report documents a s...
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Article
Glomerulocystic renal disease: ultrasound appearances
Renal and hepatic sonography were performed in 2 neonates with glomerulocystic renal disease. One neonate had ultrasound findings of normal hypoechoic medullary pyramids, enabling differentiation from infantil...
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Article
Striatal degeneration in glutaric acidaemia type II
A girl of first cousin parents presented in the 1st year of life with a progressive neurological disease with muscle weakness and hypotonia, accompanied later by dystonia. Investigations, including gas chromat...
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Article
Pathology of hepatic peroxisomes and mitochondria in patients with peroxisomal disorders
The morphology of hepatic peroxisomes in five patients with metabolic disorders believed to be due to inherited defects of peroxisomal function or biogenesis is described. Electron microscopy and cytochemical ...
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Article
Autopsy findings in two siblings with infantile Refsum disease
Recognition of adrenal atrophy during a review of autopsy findings in two sisters who died at 8 months and 3 1/2 years prompted estimation of very long chain fatty acids, phytanic acid and pristanic acid on we...
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Article
Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctata
Peroxisomes were studied in the liver of two rhizomelic chondrodysplasia punctata patients using electron microscopy and catalase cytochemistry. Immuno-electron microscopy was carried out on the liver of one o...
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Article
Idiopathic unilateral benign macro-orchidism
Unilateral benign macro-orchidism is a rare condition. An 11-year-old boy who had painless unilateral testicular enlargement is presented. The diagnosis was confirmed histologically. The differential diagnosis...
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Article
Generalised nuclear and cytoplasmic inclusion disease: a rare case investigated by microscopy and immunohistochemistry
A Caucasian female who was noted to be mildly microcephalic at birth was diagnosed as having cerebral palsy at the age of 1 year. Her development was delayed and she never walked or talked. She appeared relati...
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Article
Absence of common trifunctional protein mutation in patients with Alpers disease