Childhood medulloblastoma in Denmark 1960-1984. A population-based retrospective study.

Medulloblastoma is a common paediatric brain tumour, located in the cerebellum and in the IV ventricle, surpassed in frequency only by astrocytomas. 180 children below the age of 15 with a medulloblastoma of the posterior fossa were treated in Denmark in the 25-year period from 1960 to 1984 and followed up until the end of 1996, or until death. During the 25 years they accounted for 20% of all intracranial tumours in children in Denmark.

Epidemiology and prognosis in children treated for intracranial tumours in Denmark 1960-1984.

A total of 911 Danish children under 15 years of age were treated for an intracranial tumour in the 25-five year period 1960-1984. All cases were followed up to the end of 1994 or to emigration or death if one of these came sooner. The mean annual incidence was 32.

Dorsal root gangliopathia presenting with rapidly progressing sensory polyneuropathy.

A 52-year-old woman developed progressive sensory polyneuropathy leading to death in 1.5 years. Electromyography and peripheral nerve biopsy had revealed severe axonal degeneration.

Cerebral magnetic resonance spectroscopy in Rett syndrome. Failure to detect mitochondrial disorder.

A total of eight girls with Rett syndrome were examined, by 31phosphorous magnetic resonance spectroscopy (31P MRS) (4 girls), proton MRS (1H MRS) (4 girls), muscle biopsying (2 girls), and determination of pyruvate and lactate in plasma (5 girls), to investigate the hypothesis of a mitochondrial malfunction as the etiology for this neurologic disorder. Almost all examinations, including electron microscopy in search of structural mitochondrial abnormalities, gave normal results, the only exception being the not unexpected finding of slight neurogenic atrophy in the muscle biopsy specimen from a 15-year-old girl.

Prader-Willi syndrome and central nervous system calcifications: chance or fundamentally related findings?

The central nervous system of a 16 8/12-year-old boy with Prader-Willi syndrome is described. Extensive calcifications of the central nervous system were observed at autopsy as grittiness of the brain slices and verified by X-ray and microscopy. The encrustations were particularly localized in the leptomeninges, the first and second layer of the cerebral and cerebellar cortex and along the ventricular system.

Central nervous system calcifications following tap water rinsing in autopsy material from children. A pitfall.

CNS from 80 children collected consecutively at the Institute of Forensic Medicine, Aarhus, were investigated. Owing to peculiar calcifications of the first 41 CNS examined, we gradually came to suspect that some external factors had influenced the results. Different fixation methods used on the CNS, rinsed or not rinsed in tap water, led us to suggest that the relatively high calcium content in the tap water in our part of the country was the cause.

Stereological estimates of nuclear volume and other quantitative variables in supratentorial brain tumors. Practical technique and use in prognostic evaluation.

The use of morphometry and modern stereology in malignancy grading of brain tumors is only poorly investigated. The aim of this study was to present these quantitative methods. A retrospective feasibility study of 46 patients with supratentorial brain tumors was carried out to demonstrate the practical technique.

Incomplete development of the brain in a newborn with methylmalonic aciduria.

The investigation of the brain from a seven-day-old girl who died from a disorder in the metabolism of methylmalonic acid revealed a severe reactive gliosis of the cerebral white matter and the deeper layers of the cortex, incomplete development of the fetal granular layer of the cerebellum and the Bergmann glial cells, and delayed myelination of the cerebellum, the brainstem, and the cervical spinal cord. We suggest that some of the described neuropathological findings are an immediate consequence of a disturbed methylmalonic acid metabolism starting in utero, and not exclusively a secondary phenomenon due to accumulation of metabolites and acidosis postpartum.

Juvenile ceroid-lipofuscinosis and calcifications of the CNS.

The post-mortem brains and spinal cords of 20 juvenile ceroid-lipofuscinosis (JC-L) cases from 1973 to 1987 were investigated. Clinical course of the disease was characterized by impaired vision from the age of 5-8 years, progressive dementia, seizures, somatic retardation, and early death (16-29 years of age). Microscopy showed classic intracytoplasmic autofluorescent lipopigment in the nerve cells throughout the CNS and viscera.

The concentration of the Na,K-pump in skeletal and heart muscle in congestive heart failure.

Na,K-ATPase (or the Na,K-pump) is essential for excitability and contractility of muscle tissue. Previous studies have shown a decrease in the concentration of this pump in endomyocardial biopsies from patients with dilated cardiomyopathy. The effect of congestive heart failure on the concentration of Na,K-ATPase in skeletal muscle was assessed in 16 patients by measurement of binding of 3H-ouabain to biopsies of the vastus lateralis muscle.

Morphology of tracheal scar after resection with CO2-laser and high-frequency cutting loop. A study in normal pigs.

In 6 pigs a bronchoscopical resection of the tracheal mucosa was performed using CO2-laser on one side, and an electric high-frequency cutting loop (ECL) on the other. The pigs were sacrificed 3 months later. On macroscopic examination the tracheal mucosa appeared almost normal on the laser-resected side, while severe deformation was seen after ECL treatment.

Deficiency of reticular fibers in cerebral arteries. On the etiology of saccular aneurysms in childhood.

A 5-year-old, previous healthy, girl developed a large hematoma of the right cerebral hemisphere and died. An aneurysm was strongly suggested. As previously found in adult aneurysm patients, histological and morphometric investigations showed an abnormality of the reticular fibers of the cerebral arteries.

Distribution of dietary mercury in a dog. Quantitation and localization of total mercury in organs and central nervous system.

An Alsatian dog which had been fed fish contaminated with methyl mercury for 7 years was examined after its death at the age of 12, 4 years after the exposure to methyl mercury had ceased. Two dogs of the same age and breed served as controls. In the exposed dog, mercury was found in all of the organs examined; the highest concentrations were found in the kidneys, and the lowest in the gastrointestinal tract and skeletal muscles.

X-linked Duchenne muscular dystrophy. Motor functions and prognosis.

69 patients with x-linked Duchenne Muscular Dystrophy (DMD) were included in a retrospective investigation from 1975-1986. A mean profile of the decline of the motor functions was made by using the median age at which the patients were unable to perform specific motor functions by request. It was found that 81.

Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system.

Three children from a sibship of four had congenital contractures, scarce facial expressions, central nervous system dysfunction, and early death. Extensive deposits of calcium compounds were found at postmortem examination of the nervous system and of skeletal muscle. The disorder in these sibs is presumably inherited as an autosomal recessive trait.

Late nervous system disorders in cured malignant lymphoma: a clinical and neuropathological study.

A 53-year-old woman was treated for and cured of low grade malignant lymphoma, localized to the neck, by irradiation and chemotherapy. One year later she developed signs of damage to the spinal cord with slight paraparesis of the lower extremities, which remained stationary for seven years. Then, new and rapidly progressive central and peripheral neurological symptoms developed.

Calcification of the central nervous system in a new hereditary neurological syndrome.

A case of a new hereditary neurological condition with extensive calcifications of the central nervous system is described. The calcium deposits were especially localized to the leptomeninges, the first layer of the cerebral and cerebellar cortex, and along the ventricular wall. The neuropathological findings were in accordance with the clinic.

Sudden death from cerebral cysticercosis.

A case of sudden death from cysticercosis cerebri is described. A 38-year-old Ecuadorian woman suffered from headache for a few weeks which was interpreted as migraine. Later she developed extremely severe headache with seizures and died.

Lafora's disease and brain calcifications.

The brain from a 22-year-old man with progressive myoclonal epilepsy (Lafora's disease) was examined. Besides widespread inclusion bodies in the nerve cells calcifications were seen on the inner and outer surface of the brain. No gliosis was present but the astrocytes were enlarged.

Postmortem Menkes diagnosis from carrier testing of female relatives.

A boy who died at 6 months of age was noted to have sparse, stubby and light hair, pili torti were observed microscopically, and his skin was dry and redundant. As a suspicion of Menkes disease was first raised after his death, serum copper and ceruloplasmin in serum were not measured. Unfortunately, no fibroblasts were available - only fixed and paraffin-embedded samples of brain, spleen and liver.

Astrocytes in the postnatal central nervous system. From birth to 14 years of age. An immunohistochemical study on paraffin-embedded material.

The postnatal development of the fibrillary astrocyte in 25 children without any anamnestic or post mortem signs of disease were studied. The investigation was performed on basis of the immunoperoxidase method for glial fibrillary acidic protein (GFAP). The supporting function of the external glial limiting membrane, the glial vascular limiting membrane and the metabolic role of the astrocytes are stressed.

Astrocytes in the prenatal central nervous system. From 5th to 28th week of gestation. An immunohistochemical study on paraffin-embedded material.

The CNS from 30 normal fetuses aged 5-28 weeks were studied in GFAP stained paraffin-embedded material. The technique of preparation, autopsy and fixation is described in details. GFAP reacting glial cells developed first in the spinal cord at 7 weeks, and appeared in all regions of CNS during fetal life in a systematic way but with a temporal variation.

Familial centronuclear myopathy: a clinical and pathological study.

A congenital myotubular myopathy in a family is presented. An elderly woman, her daughter and her granddaughter showed the characteristic clinical and histological pattern of the disease. It is still a matter of debate whether the disease is of myopathic or neuropathic origin.