Biomedical subjects
Publications and source records attributed to R A Mullaart.
A 14-year-old boy presented with a febrile illness associated with arthritis. Shortly later he developed mononeuritis multiplex. After certain typical skin lesions had developed after two months, the diagnosis cutaneous polyarteritis could be made. The diagnostic features of this benign disease, which may involve peripheral nerves, are discussed.
From four Dutch families six patients, who have congenital muscular dystrophy, involvement of the central nervous system and of the eyes, or the so-called "muscle, eye and brain disease" (MEB-D), are reported. Two patients are still alive, in four autopsy could be performed. The clinical and morphological data of our patients are compared to those described in recent literature. The progression of the disease was rapid in five of our six patients. Our study supports the idea that within the MEB-D syndrome there are at least two different types of clinical expression, one with a rapid progression as described by Dobyns et al 1989 (9) and one with a slower progression as described in most patients of Santavuori et al 1989 (23). The study also confirms the autosomal recessive mode of inheritance of MEB-D.
Congenital muscular dystrophy (CMD) associated with cerebro-ocular dysplasia named muscle-eye-brain disease (MEB-D) is described in two sisters. Progressive hypotonia, mental retardation and severe visual failure appeared immediately after birth. Pathological examination demonstrated muscular dystrophy, hydrocephalus, type II lissencephaly and defective eye development of foetal origin. The great similarity of the clinical and neuropathological picture of both sisters is in agreement with an autosomal recessive inheritance. Neuropathological distinction between Fukuyama-CMD and MEB-D is a more severe and earlier cerebral developmental defect and the association with ocular dysplasia in MEB-D.
We present the first case of fetal periventricular hemorrhage due to type IIa Von Willebrand's disease. Discussed are the causal relationships between fetal hemostatic disorders and periventricular hemorrhage, the risks of labor and delivery, and the management with respect to antenatal diagnosis, fetal therapy, and delivery.
Accuracy of transfontanellar Doppler ultrasound measurement of blood flow velocity and its variability in the supraclinoid segment of the internal carotid artery was studied in preterm newborns. Measurements were performed in duplicate, on a well defined site, under negligible angle of insonation, and during stable physical condition. The measurements included the base value and variability over 20 seconds, for: diastolic velocity; mean velocity; systolic velocity; resistance index; diastolic time interval; systolic time interval; heart beat duration. As a measure of accuracy the coefficient of repeatability was calculated for each parameter. Coefficients several times smaller than the range of measured values, were found for most parameters. These parameters and their coefficients include: diastolic velocity (base value 3.1 cm s-1, variability 1.6 cm s-1); mean velocity base value 3.1 cm s-1; systolic velocity base value 4.5 cm s-1; resistance index (base value 0.13, variability 0.08); diastolic time interval base value 25 ms; systolic time interval base value 27 ms; heart beat duration base value 27 ms. Thus, Doppler ultrasound enables differentiation within the biological variation of certain properties of cerebral blood flow.
We report the cases of 18 patients with congenital muscular dystrophy, six of whom also have involvement of the central nervous system, corresponding to the Fukuyama type of congenital muscular dystrophy. In four patients, both the central nervous system and the eyes are involved, and the diagnosis of "muscle, eye and brain disease" was made. A comparative study of these patients with those whose cases were recently reported indicates that there is a wide variability of clinical and laboratory expression of the dystrophy, but a constant feature in all patients is a progression of motor disability. The association of congenital muscular dystrophy with brain abnormalities indicates a poor clinical prognosis. At present it remains an open question whether the three variants of the disease are separate diseases or only different expressions of the same syndrome, but our study tends to support the latter hypothesis.
By means of Doppler ultrasound the blood velocity can be measured in the cerebral arteries in neonates and infants. In this article various modifications of the method are discussed. We conclude that for the time being the method of choice should be: measurement of absolute velocity in the internal carotid artery by use of transfontanellar duplex examination. The reliability of the method, the pathophysiological meaning of velocity curve parameters and the normal variation of the parameter values, are still a matter of debate.
The pathogenesis of the ceroid lipofuscinoses (CLF) is unknown. The various types (infantile, late-infantile, juvenile and adult type of CLF) are characterized by accumulation of ceroïd and lipofuscin material in neuronal and extraneuronal tissues. One of the leading hypotheses claims this accumulation to be due to lipid peroxidation. Therapeutical formula's were introduced by Zeman and subsequently by Santavuori and Westermarck, consisting of antioxidants. We applied the Westermarck-formula in two patients with late-infantile CLF, M. Jansky-Bielschowsky, however, without any therapeutical effect. Application of the formula in 3 patients with the juvenile CLF, the M. Batten-Spielmeyer-Vogt, resulted in a mitigated course of the disease. We concluded that antioxidant therapy in CLF, as applied thus far, has to be considered to be symptomatic rather than causal.
Since the possibility of brain visualisation with ultrasound ventriculomegaly can be found frequently in an early stage. Ventriculomegaly caused either by an increased intraventricular pressure or an atrophic process of cerebral tissue around the ventricles. An increase in headcircumference together with an increase in ventricular size will not give problems with the diagnosis increased intraventricular pressure. However, competition between brain tissue compliance and resistance of the skull will determine which will be the first one to increase. In this the age of the patient will play an important role. The histories of three patients demonstrate these problems. The follow up of headcircumference, ventricular diameter and knowledge of the intracranial pathology, given by transfontanellar sonography in infants will determine therapeutic management excellently, often because of absence of clinical signs. Finally, the effect of treatment given can be followed closely by these measurements in an easier way and more friendly to the patient than by CT-scans.
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The clinical course in two young patients, suffering from acute progressive idiopathic polyradiculoneuropathy, the Guillain Barré Syndrome, is described. In view of the progressive course, plasmapheresis was applied. After plasmapheresis we noted a remarkable clinical recovery. Those observations are compatible with several case reports in the literature. In our view plasmapheresis deserves also in children serious consideration in the treatment of rapidly progressive cases of GBS.
Using combined echoencephalography and Doppler flow determination the diagnosis Arteriovenous aneurysm of the great cerebral vein of Galen could be made in two infants. Without vascular surgery one patient died, the other recovered completely. CT scanning confirmed the diagnosis. Invasive methods such as cerebral angiography were avoided. Case histories, neuropathological findings, ultrasound method and results are presented. Pathogenesis, clinical signs, treatment and prognosis are discussed. With the ultrasound method presented, the nature and location of the vascular anomaly were demonstrable, thus additional higher risk diagnostic methods could be avoided or planned more purposefully.
Although fever is regarded as the main trigger in the pathogenesis of febrile seizures (FS), it is not supposed to be the unique causative factor. In FS, there is a strong familial predisposition. This does not exclude infections as a causative factor because subtle genetic polymorphisms have been demonstrated to affect the course of infections. We review the literature on: (1) the role of fever, especially the height of temperature, its cause, and metabolic effects induced by temperature; (2) the role of heredity; (3) the role of cytokines which play a role in the induction of fever; and (4) the role of type of infection, with emphasis on newly identified agents and improved diagnostic techniques. With modern molecular techniques such as PCR, viruses have been detected in the CSF far more often than previously thought, even in the absence of pleocytosis of the CSF. This makes it difficult to distinguish FS from acute encephalitis. FS may be caused by neuroinvasion or intracerebral activation of viruses. Further studies should focus on these options because therapeutic intervention is possible and may prevent late sequelae such as recurrent FS and subsequent epilepsy.
OBJECTIVE: Persistent exposure of the unprotected spinal cord to amniotic fluid and the uterine wall can lead to progressive damage of neural tissue in case of a myelomeningocele (two-hit hypothesis). The aim of this study was to evaluate whether in utero repair of an experimental neural tube defect in a fetal lamb could protect neural tissue from secondary injury and save neurologic functions after birth. METHODS: In 19 fetal lambs, a neural tube defect was created at 79 days' gestation. In 12 lambs the defect was covered either with a novel, molecular defined collagen-based biocompatible and biodegradable matrix (UMC) or with a small intestinal submucosa (SIS) biomatrix (Cook) or by closing the skin over the defect. RESULTS: All lambs with the defect covered showed no or minor neurologic morbidity in contrast to the lambs with the defect uncovered in which major neurologic morbidity was seen. CONCLUSIONS: These results demonstrate that long-term exposure of the open spinal cord to the intrauterine environment can lead to damage of neural tissue and, consequently loss of neurologic functions and that coverage of the defect can lead to a better neurologic outcome. Furthermore, we could show that a UMC biomatrix and an SIS biomatrix are useful for in utero coverage of a surgically created neural tube defect in our model.