Biomedical subjects
Publications and source records attributed to F Hanefeld.
A case of infantile spasms who developed later on many characteristics of Rett syndrome is described. Rett syndrome was also observed in two sisters. This will probably have great importance for genetic counselling.
In the absence of discriminatory laboratory tests for accurate diagnosis of the Rett syndrome, the authors have tried to give as precise clinical criteria as possible for use particularly for research purposes.
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The erythema-migrans-disease is closely related to Lyme-disease as described in the USA, and represents a tickborne spirochetosis with highest incidence during summer and autumn. Besides nonspecific general symptoms in its earlier stages, it is characterized by a distinctive erythema migrans; later, additional neurological, cardiac and/or arthritic symptoms may develope. Its typical neurologic complication, the lymphocytic meningoradiculitis Garin-Bujadoux-Bannwarth, was observed in three children whose clinical features illustrate the great variability of symptoms of Erythema-migrans-disease. Serological tests for specific spirochete antibodies are valuable aids in differential diagnosis, especially for cases with late complications if a tick bite is not remembered, or as is not uncommon, the typical skin lesion has not occurred, or has not been noted. Antibiotic therapy with penicillin or tetracycline is a successful treatment of the earlier stages of the disease and can prevent, or at least ameliorate, subsequent complications.
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Several studies have reported a decline in intelligence and cognitive functions in survivors of childhood acute lymphoblastic leukemia (ALL). Other investigators, however, have found no intellectual impairment in these children. Fifty-one long-term survivors of ALL, having been treated according to the protocols of the BFM Study Group from 1970 to 1979, were assessed retrospectively using neurophysical methods. The results were compared with those obtained from 30 patients with other malignancies, who had received neither radiation therapy to the central nervous system (CRT) nor any methotrexate during chemotherapy. Additionally, neurological examinations and cranial computed tomography (CCT) were performed. neuropsychological examinations included verbal functions, intelligence (performance), psychomotor speed, motor skills and sensory integration. The results of verbal tests and the IQs, tested by nonspeed-related measures, were within normal limits in both groups. About one-third of all patients showed mild disturbances of psychomotor speed and motor skills. Children with leukemia had lower scores than those with solid tumors for nearly all tasks, but only tests for sensory integration revealed significant differences between former ALL patients and tumor patients. Furthermore, the following results were obtained related to different therapeutic modalities: The higher total radiation doses had been during CRT (maximum 24 GY), the more neuropsychological functions were impaired, particularly motor accuracy and sensory integration. These disturbances improved with the length of survival. Widening of subarachnoidal space was found in 33% of the CCT obtained. There was no correlation between the intellectual functions of the survivors and the CCT abnormalities. Neurological findings mainly consisted of slight fine motor disturbances.(ABSTRACT TRUNCATED AT 250 WORDS)
CSF proteins in 107 children ranging from 3 to 24 months of age were analyzed by means of quantitative zone electrophoresis on agarose gel. Subjects included 50 children with infantile spasms, 41 children without CNS disease serving as controls, and 16 infants with acute aseptic meningitis who demonstrated the protein pattern of blood-CSF barrier disturbance. Children with infantile spasms were subdivided into several groups according to etiological categories: symptomatic (pre-, peri-, and postnatal), doubtful, and cryptogenetic. Before any treatment was started, these children showed the protein profile of increased permeability of the blood-CSF barrier, especially for albumin. There was an association between the severity of the changes and the etiological category. Changes were most marked in the symptomatic group, intermediate in the doubtful group, and slight in the cryptogenetic group. No child with infantile spasms of doubtful or unknown etiology revealed changes of the immunoglobulin-containing gamma fractions. Ten children who had received adrenocorticotropic hormone (ACTH) or dexamethasone for 2-11 weeks no longer showed any protein leakage into the CSF. The period of ACTH or dexamethasone treatment was characterized by the following findings: the disappearance or reduction of hypsarrhythmia; the reappearance of normal cerebrovascular permeability for protein; and the occurrence of reversible dilatation of the subarachnoid and intraventricular spaces.
Thirteen patients who had undergone prolonged adrenocorticotropic hormone (ACTH) therapy for infantile spasms or myoclonic encephalopathy were examined with sonography. Nine patients were found to have appearances characteristic of medullary nephrocalcinosis. In each of these infants the cortical echogenicity was normal in the presence of focal areas of increased echogenicity within the renal pyramids. Five patients also showed a homogeneously increased echogenicity of the whole pancreas on sonography, and two of these showed increased density on computed tomography. Density measurements were in the range of calcific material within the papillae and pancreatic tissue. On abdominal survey radiographs, even in retrospect no calcifications could be recognized.
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Explore the source record for details and available documents.
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Gamma-hydroxybutyric aciduria is a disorder of gamma-aminobutyric acid metabolism in which a compound of known neuropharmacologic activity accumulates. We have studied two patients in whom high levels of gamma-hydroxybutyric acid were found in blood, urine and cerebrospinal fluid. A coupled assay has been developed which estimates succinic semialdehyde dehydrogenase activity in isolated human lymphocytes. The mean activity of succinic semialdehyde dehydrogenase in a control and the four parents and two healthy siblings of these patients was 8.8 +/- 1.9 pmol . min-1 . mg-1 protein. In the patients the activities were 0.8 and 1.1 pmol . min-1 . mg-1 protein, approximately 9-13% of control. In the presence of saturating amounts of NAD+, lymphocyte sonicates, derived from the patients accumulated a significant amount of 14C-succinic semialdehyde from 14C-gamma aminobutyric acid, whereas none could be detected in controls. The data suggest a deficiency of succinic semialdehyde dehydrogenase in these patients, the first documented defect of the metabolism of gamma-aminobutyric acid in man.
We report on a female newborn baby with a "myopathic" stiff face, open mouth, high-arched palate, microgenia, generalized muscular hypotonia, limited extension of elbows, wrists and knees, flexed adducted thumbs, velopharyngeal insufficiency, and hypertrichosis. Death occurred at 3 months due to respiratory insufficiency. Muscular biopsy revealed myopathic abnormalities.
64 children with acute lymphoblastic leukemia and non Hodgkin's lymphoma in continuous complete remission were studied by cranial computed tomography two months to 7 years after cessation of antileukemic treatment. 17 (27%) patients showed abnormal widening (grade 2) of external cerebrospinal fluid spaces, 20 (31%) minimal widening (grade 1). A significant correlation between grade 2 abnormalities and the duration of maintenance therapy and single cranial radiation dose was found, whereas the correlations with total radiation dose and with intensity of induction protocols were not significant. Widening of external cerebrospinal fluid spaces after cessation of therapy persisted.
Abnormal widening of cortical sulci as seen in posttherapeutic cranial computed tomography (CCT) of 64 children in complete continuous remission (CCR) of acute lymphoblastic leucemia (ALL)/non Hodgkin's lymphoma (NHL) was related to patient data and neurological complications during the application of West Berlin treatment protocol. Age and neurological/neurodevelopmental findings of the patients at diagnosis of their disease positively and significantly correlated with CCT abnormalities. Abnormal pre- and intratherapeutic electroencephalographic (EEG) recordings, the development of a severe polyneuropathy syndrome and/or a considerable loss of weight during treatment were frequently associated with an abnormal widening of cortical sulci. Occurrence of transient early encephalopathy syndrome, development of radiation induced blood brain barrier disturbance and somnolence syndrome were not correlated with these CCT changes. Possible explanations of these abnormalities are discussed.
Continuous long-time electroencephalographic (EEG) monitoring was performed during acetate and bicarbonate dialysis in 20 patients. Persisting normal basic activity of the EEG without neurological symptoms was found only during the course of bicarbonate dialysis. However, in acetate dialysis, during the decrease of arterial CO2 tension (PaCO2), we registered EEG disturbances with moderate to severe slowing, dysrhythmic activity and high voltage discharges. The decrease in PaCO2 and the deterioration in EEG activity in the patients during acetate dialysis was concomitant with severe neurological alterations, e.g. the typical symptoms of so-called 'disequilibrium' causing a cessation of dialysis in three patients.
Continuous long-time electroencephalographic (EEG) monitoring was performed during AHD and BHD in 20 patients. Persisting normal basic activity of the EEG without neurological symptoms could be found only during the course of BHD. However, in AHD, during the decrease of arterial CO2 tension (PaCO2) we registered EEG disturbances with moderate to severe slowing down, dysrythmic activity and high voltage discharges. The decrease in PaCO2 and the deterioration in EEG activity in the patients during AHD was concomitant with severe neurological alterations, e.g. the typical symptoms of so-called "disequilibrium" causing a cessation of dialysis in 3 patients.