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Biomedical subjects

J H Begeer

Publications and source records attributed to J H Begeer.

34 records · Page 2Linked to original sources
PubMed1991

Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy.

Two sisters are described with a disorder characterised by mental retardation, congenital cataract, progressive spinocerebellar ataxia, sensorineural deafness, and signs of peripheral neuropathy. Progressive hearing loss, ataxia, and polyneuropathy became evident in the third decade. The differential diagnosis of this syndrome is discussed including the syndromes described by Berman et al and Koletzko et al.

Ataxia↗
PubMed1989

Tethered cord syndrome: clinical signs and results of operation in 42 patients with spina bifida aperta and occulta.

The results of tethered spinal cord operations in 42 patients were evaluated. Over a period of 10 years, 20 spina bifida occulta (S.B.O.) and 22 spina bifida aperta (S.B.A.) patients were operated. In the S.B.O. group 6 patients were operated when young in order to prevent neurological deterioration. With a mean follow-up of 3 years they developed no new neurological symptoms. The clinical symptoms and the age at which the neurological deterioration occurred was quite similar in the S.B.O. and S.B.A. patients. Motor dysfunction and pain in back and/or legs were the most frequent symptoms. The postoperative complication rate was low. The purpose of surgery was to stop further neurological deterioration. The operative results were slightly better in the S.B.A. group than with the S.B.O. group. In both groups of patients it was evident that operation at an older age after a long period of complaints was associated with less favourable postoperative results. The surgical treatment of a tethered spinal cord syndrome in patients with spina bifida aperta is no more risk than an operation in spina bifida occulta patients.

Adolescent↗
PubMed1989

CSF choline levels in neurologically disturbed children.

Choline levels in cerebrospinal fluid (CSF) were measured in a large group of neurologically disturbed children (n = 114) and in a control group (n = 15). Only 5 children showed CSF choline levels that differed more than 2 standard deviations from the mean of the total investigated group, suggesting that CSF choline levels are extremely stable. Of the 5 children showing extreme values, 3 suffered primarily from psychomotor retardation. Further analysis showed that the CSF choline levels in the medication-free patient group suffering from psychomotor retardation (n = 18) were significantly elevated in comparison with the control group. CSF choline levels of children were found to fit excellently in the regression line showing the increase of CSF choline levels with age as calculated earlier for adults. Therefore, CSF choline levels appear to increase linearly with age during the whole life span. From direct measurements and from measurements in consecutive fractions of lumbar CSF it is concluded that choline levels in intracranial CSF are 2-3 fold as high as those in lumbar CSF.

Adolescent↗
PubMed1989

[Spinal dysraphia and tethered cord syndrome. Current developments].

The tethered spinal cord syndrome is occurring regularly in patients with spina bifida and spina bifida aperta. Progressive neurological deficit of legs, bladder and rectum can occur due to this syndrome. Early detection of patients with this syndrome is mandatory in order to apply a preventive operation in this patients. Confirmation of the diagnosis can be obtained by myelographic examination combined with computer tomographic techniques. The latest diagnostic development, magnetic resonance imaging, can detect this abnormalities in a much easier way. Patients who were operated because of spina bifida aperta shortly after birth can show the same neurological deterioration during childhood due to the tethered cord syndrome. In this patients a similar operation as in patients with spina bifida occulta has to be considered. With the magnetic resonance examination technique it is also possible to detect abnormalities associated with spina bifida like syringomyelia, Arnold Chiari malformation and diastematomyelia in a much easier way.

Child↗
PubMed1987

Early infantile form of neuronal ceroid lipofuscinosis. Four Dutch cases and review of the literature.

In this paper four Dutch cases of early infantile neuronal ceroid lipofuscinosis (NCL) are described, all being boys. NCL is a group of diseases morphologically characterized by accumulation of autofluorescent ceroid lipofuscin-like pigment. Psychomotor deterioration, impairment of vision, and epileptic manifestations are the major clinical features. Onset in early infantile age is rare. We reviewed 71 cases reported in the literature, and compared the symptoms and signs with the findings in our patients. Psychomotor deterioration, visual impairment and myoclonic jerks are often observed early in the disease. Eventually, every patient shows psychomotor deterioration. The outcome is always lethal, usually within a few years. Special attention is paid to diagnostic procedures.

Child↗
PubMed1986

Signs of focal posterior cerebral abnormality in early subacute sclerosing panencephalitis.

In 16 cases of subacute sclerosing panencephalitis (SSPE), praxis and visual spatial capacities were more impaired early in the disease than were language functions. Together with the electroencephalographic findings, this suggests that the early lesions in SSPE are more pronounced in the parietooccipital area than in the classic language areas. Other reports also support such a localization. Detection of the disease in its early phase when dressing apraxia and visual impairment predominate is important in conducting clinical trials of different therapeutic agents.

Adolescent↗
PubMed1986

Progressive neurological deficit in children with spina bifida aperta.

The results of re-operation of 15 patients with spina bifida aperta are reported. The operation was necessary because of neurological deterioration with increasing motor and bladder dysfunction. In all patients a tethered cord syndrome was present (CT-myelography). The myelum was adherent to the scar of the myelomeningocele repair. At operation the myelum is released from the adherent scar and in this way untethered. The early complications were mild except for one patient with decompensation of hydrocephalus. The aim of the operation was to stop further progression. The results of the operation were satisfactory with stabilisation of motor function in four patients and improvement of motor dysfunction in ten patients. Backache or fixation, bladder dysfunction and abnormal foot shape improved in some of the patients. In our experience the operative untethering procedure was useful. Intensive neurological control of operated spina bifida aperta patients is mandatory especially in those patients who can walk.

Adolescent↗
PubMed1985

Cranio-vertebral pathology in Down syndrome.

Cranio-vertebral malformations, especially atlanto-axial dislocation, are frequently seen in Down patients. However, symptomatic forms in mongolism are rare. Pyramidal signs have a signal value. In symptomatic malformations surgical treatment should be advised, i.e. posterior fixation after pre-operative reduction by traction or transoral odontoidectomy if no reduction is achieved.

Adolescent↗
PubMed1979

Infantile neuroaxonal dystrophy and giant axonal neuropathy: are they related?

Light and electron microscopic findings from two sural nerve biopsies obtained at a one-year interval from a patient with the clinical features of Seitelberger's disease are described. Ballooned axons with accumulations of membranous profiles, vesicles, mitochondria, and a homogeneous center were present, and there were masses of 90 A filaments in endothelial, endoneurial, perineurial, and Schwann cells. These pathological alterations were less prominent in the second nerve biopsy, which showed a more pronounced decrease in myelinated fibers. The case shows that a generalized increase of 90 A filaments in structures of the peripheral nervous system is not a phenomenon exclusively occurring in patients with giant axonal neuropathy and, furthermore, that it may be a transitory feature.

Axons↗
PubMed1979

A peculiar brain scan pattern in necrotizing leukoencephalopathy after treatment for CNS-leukaemia.

Two patients with CNS-leukaemia who developed a leukoencephalopathy after cranial irradiation and methotrexate administration are described. Conventional brain scanning with 99m TC-pertechnetate showed a peculiar pattern which suggested the presence of radio-activity within enlarged ventricles, but were later interpreted as accumulation in the periventricular white matter. The brainscan pattern correlated well with the neuropathological findings in the case where autopsy was performed. This brain scan pattern is for unknown reasons only rarely mentioned in literature. It seems a useful tool in diagnostic procedures in similar patients.

Brain↗