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Biomedical subjects

R Korinthenberg

Publications and source records attributed to R Korinthenberg.

At least 55 records · Page 3Linked to original sources
PubMed1998

Axonal neuropathy and predominance of type II myofibers in infantile spinal muscular atrophy.

Two affected siblings with infantile spinal muscular atrophy (SMA I) presented with generalized muscular hypotonia, which progressed to early death. Quadriceps muscle biopsy did not show the typical neurogenic pattern of spinal muscular atrophy. The histochemical fiber type determination revealed a predominance of type II fibers without type I hypertrophy, an unprecedented finding in spinal muscular atrophy. Sural nerve biopsy exhibited findings typical for axonal neuropathy. In one patient, electrical stimulation of peripheral nerves showed an inexcitability of motor and sensory nerves. Genetic studies revealed homozygous deletions of the telomeric survival motor neuron (SMN) gene and the neuronal apoptosis inhibitory protein (NAIP) gene in the affected children. This is the second case report of molecular genetically proven spinal muscular atrophy associated with axonal neuropathy. We conclude atypical findings on muscle biopsy and evidence of axonal neuropathy are compatible with the diagnosis of infantile spinal muscular atrophy.

Adult↗
PubMed1998

Fetal cerebral AV-malformation and cardiomegaly, diagnostic and therapeutic problems.

Intracerebral aneurysms are rare. However they are potentially life-threatening. Today by means of ultrasound investigations these malformations can occasionally be identified prenatally. In these cases questions of intrauterine therapy, mode and time of delivery and postnatal treatment have to be discussed with the parents. We describe two cases with prenatal diagnosis of intracerebral arteriovenous malformations, diagnostic workup, therapeutic options and fetal outcome.

Adult↗
PubMed1997

Probable Opitz trigonocephaly C syndrome with medulloblastoma.

We report on a patient with trigonocephaly, biparietal widening as a result of metopic synostosis, strabismus, upslanted palpebral fissures, apparently low-set ears with abnormal helices, deeply furrowed palate, postaxial polysyndactyly of the feet, ankle flexion deformities, cryptorchidism, loose skin, and severe mental retardation, findings compatible with a diagnosis of the Opitz trigonocephaly C syndrome (OTS). At the age of 12 years this patient presented with symptoms of raised intracranial pressure. A biopsy showed findings diagnostic of a medulloblastoma WHO Grade IV, an unprecedented finding in OTS. The possibility of coincidence should not prevent continued surveillance of OTS patients in the future for the occurrence of malignancy.

Abnormalities, Multiple↗
PubMed1997

CNS late effects after ALL therapy in childhood. Part II: Conventional EEG recordings in asymptomatic long-term survivors of childhood ALL--an evaluation of the interferences between neurophysiology, neurology, psychology, and CNS morphology. German Late Effects Working Group.

Monitoring of therapy-related late effects after acute lymphoblastic leukemia (ALL) therapy in childhood has become an increasingly important area in posttherapeutic patient surveillance. The usefulness of conventional electro-encephalographic (EEG) investigations as part of these attempts is controversially discussed. However, EEG recordings have become a popular approach for judgement on the functional integrity of the central nervous system in this subject group. The present report focuses on this problem and discusses the question whether and to what extent conventional EEG recordings were correlated with further measures of central nervous system (CNS) integrity and therapeutic differences. EEGs were recorded in 110 subjects, asymptomatic long-term survivors of ALL in childhood, during a large retrospective multicenter study evaluating CNS late sequelae following antileukemic therapy in Germany and Austria. EEG findings were correlated with demographic data, illness- and treatment-related parameters, as well as with data on the morphological, neurological and psychological status of the participating subjects. At the time of follow-up the EEG was abnormal in 47 cases (42.7%). The most frequent EEG abnormalities observed were disturbances of the background activity (n = 45, 95.8%), followed by hypersynchrone activities (n = 1.0, 21.3%) and interhemispheric differences/focal slowing (n = 6, 12.8%). With exception of age at diagnosis, none of the observed EEG abnormalities showed a correlation with any of the aforementioned illness- or treatment-related parameters. Eighty percent of the observed EEG abnormalities were found in children younger than 5 years at diagnosis. Children less than 2 years of age as well as those above 5 years at onset of disease showed a significantly reduced prevalence of EEG disturbances compared to subjects between 2 and 5 years at diagnosis. Neither the degree of illness nor therapy-specific differences showed any relationship to EEG outcome. There was no specific EEG finding for a specific morphological substrate, neurological or psychological deficiency and vice versa. Overall, there was no beneficial effect of routine EEG testing in children following therapy for ALL. According to our data, the evaluation of conventional EEG recordings of otherwise asymptomatic ALL long-term survivors is not a very helpful measure for predicting the degree of behavioral deficiencies, neurological disturbances, or morphological CNS abnormalities, which may be present or will develop in this special subject group.

Adolescent↗
PubMed1997

Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region.

Three newborn siblings presented with generalized weakness, asphyxia, facial diplegia, and external ophthalmoplegia. Electrophysiological testing showed inexcitability of motor and sensory nerves and myographic signs of denervation. Nerve biopsies and postmortem examination showed loss of myelinated fibers and axonal damage in sensory and mixed nerves. Many spinal motor neurons were chromatolytic although their number was normal. Molecular genetic investigations revealed a homozygous deletion of the survival motor neuron (SMN) gene and a loss of markers Ag1-CA and C212 in the paternal haplotype. These findings are consistent with the diagnosis of an unusually severe type of spinal muscular atrophy. Given the large extent of the deletion, it must be considered that the unusual severe phenotype with involvement of brainstem nuclei and afferent nerves might also be due to changes of yet unknown genes neighboring the SMN gene.

Axons↗
PubMed1997

Neurophysiological findings in long-term survivors of acute lymphoblastic leukaemia in childhood treated with the BFM protocol 81 SR-A/B.

UNLABELLED: Monitoring of therapy-related late effects after acute lymphoblastic leukaemia (ALL) therapy in childhood has become an increasingly important field in posttherapeutic patient surveillance. The usefulness of neurophysiological investigations (e.g. EEG, evoked potentials (EP)) as part of these attempts is controversial. The present report focuses on this problem and the question whether and to what extent routinely performed EEG recordings and visual evoked potentials (VEP) were correlated with further measures of CNS integrity. EEGs and VEPs were recorded in 163 asymptomatic long-term survivors of ALL in childhood during a large retrospective multicentre study evaluating CNS late sequelae following antileukaemic therapy. Fifty-two ALL long-term survivors (4.5-10.6 years after end of therapy, median: 8.8 years), who had been treated according to BFM-81 SR-A (n = 30) or SR-B (n = 22) were selected for this analysis focusing on therapy-related CNS late effects. Therapy protocols differed with regard to the mode for CNS prophylaxis: SR-A, cranial irradiation with intrathecal methotrexate; SR-B, intrathecal and iv methotrexate. Neurophysiological findings were correlated with illness- and treatment-related parameters, as well as with data on the morphological, neurological and psychological status of the CNS. At the time of follow-up neurophysiological measures were abnormal in 28/52 cases (53.8%). Neither illness- nor therapy-specific differences in CNS prophylaxis showed any relationship to EEG/VEP outcome any relationship to EEG/VEP outcome in this reduced group of the whole study population. Children with EEG/VEP abnormalities showed a significantly higher incidence of structural CNS disturbances compared to those with inconspicuous neurophysiological recordings (60.9% vs 31.8%). However, in this special subject group there was no specific neurophysiological finding for a specific morphological substrate, neurological or psychological deficiency and vice versa. CONCLUSION: Routinely performed EEG/VEP investigations are not very helpful measures to predict the presence or degree of behavioural deficiencies, neurological disturbances, or morphological CNS abnormalities. Patients who received cranial irradiation or systemic methotrexate applications showed the same incidence of neurophysiological disturbances without evidence for specific neurotoxic correlates.

Adolescent↗
PubMed1997

Rare combination of Becker muscular dystrophy and Klinefelter's syndrome in one patient.

Becker muscular dystrophy (BMD) was diagnosed in a male patient with Klinefelter's syndrome (47, XXY karyotype). The BMD was confirmed by (i) immunohistological methods and Western blotting, showing decreased quantity of dystrophin in muscle biopsy specimen and (ii) molecular genetic analysis which demonstrated a homozygous deletion of exons 45-47 within the dystrophin gene on both X-chromosomes. The same deletion was found on one of the X-chromosomes in the patient's mother. It can be deduced therefore that Klinefelter's syndrome in this patient is most likely due to a non-disjunctional error which occurred either during the second maternal meiotic division or during early postzygotic mitotic divisions.

Adult↗
PubMed1997

Interventional neuropediatrics: treatment of dystonic and spastic muscular hyperactivity with botulinum toxin A.

Therapeutic effect of botulinum toxin A was studied in a group of pediatric patients (n = 28) aged between 6 months and 18 years. The patients were diagnosed with cervical dystonia (n = 6), adductor spasm of the hip (n = 8), spastic drop foot (n = 7) and various other focal motor problems associated with spastic muscular hyperactivity (n = 7). The mean dose of botulinum toxin A (Dysport) used to inject into the affected muscle was 22 U/kg body weight. Reduced muscular hyperactivity with a significant increase in joint mobility was achieved for dystonic (p < 0.0001) as well as for spastic conditions in patients with adductor spasm (p < 0.0002). For these patients the improved joint mobility represented a significant benefit for both daily activities and nursing care. Local paresis and local hematoma were observed in 1/28 and 1/28 patients, respectively; 1/28 patients developed a secondary non-response. However, apart from these side effects, no other adverse reactions to botulinum toxin A treatment were recorded during the treatment and observation period (12-64 months). Our results suggest that botulinum toxin A represents an effective and safe therapeutic substance for the treatment of pediatric patients suffering of focal motor problems due to dystonic or spastic muscular hyperactivity.

Adolescent↗
PubMed1997

Ventricular shunt infection and meningitis due to Bacillus cereus.

Non-anthrax Bacillus species are usually considered to be contaminants if found in clinical specimens. Only a few patients with systemic infections due to Bacillus cereus are reported. We present the case of a 18-month old boy with a primitive neuroectodermal tumor (PNET) in the brainstem and obstructive hydrocephalus that required an outlying and subsequently a ventriculoperitoneal drain. Following contamination at the site of entry of the external drain, shunt infection and meningitis with Bacillus cereus developed. Antibiotic treatment with vancomycin failed to eliminate the bacterium from the cerebrospinal fluid, so the shunt system had to be removed. Explantation of the shunt and addition of fosfomycin to the antibiotic regimen resulted in a complete cure of the infection.

Bacillaceae Infections↗
PubMed1997

Transcranial magnetic stimulation in patients with Rett syndrome: preliminary results.

Transcranial magnetic stimulation was used to investigate Rett patients (n = 31, age 2-38 years). The results were compared to healthy control persons (n = 112, age 1 month-35 years). The peripheral conduction time showed no difference between the patients and control persons. The mean central conduction time, however, was shorter in the younger patients with Rett syndrome, and this is particularly evident in the youngest. This phenomenon could be interpreted as cortical and/or spinal hyperexcitability which occurs during the early stages of Rett syndrome.

Adolescent↗
PubMed1996

A rare (arteriolo-)capillomedullary venous anomaly of the cerebellum.

A rare (arteriolo-)capillomedullary venous anomaly of the cerebellum was examined with CT, MRI, and angiography. Unlike the usual venous angioma, this case had such extraordinary features as: infratentorial location, involvement of the whole left cerebellum, an arteriolocapillary component and a history of progressive vomiting and chronic constipation in a 7-year-old boy. CT and MRI were consistent with an extensive vascular malformation, but the actual diagnosis was reached by angiography.

Cerebellar Neoplasms↗
PubMed1996

Seizures in a boy with succinic semialdehyde dehydrogenase deficiency treated with vigabatrin (gamma-vinyl-GABA).

Succinic semialdehyde dehydrogenase (SSADH) deficiency is an autosomal recessive disease involving the catabolism of the neurotransmitter gamma-aminobutyric acid (GABA). The main symptoms include retardation of psychomotor and language development, muscle hypotonia and non-progressive ataxia. Therapy consisting of approximately 75 mg/kg per day of vigabatrin, an irreversible inhibitor of GABA-transaminase, is reported to lead to some improvement of the clinical condition in affected patients. We report on a 12-year-old boy with SSADH deficiency who, when treated with 75 mg/kg per day of vigabatrin, showed marked amelioration of symptoms but also EEG changes and two generalized seizures. On discontinuing vigabatrin therapy, the seizures resolved and the EEG improved, but the patient's clinical condition deteriorated to its pre-treatment state. A stable EEG without the recurrence of seizures as well as renewed improvement of cognitive and behavioural functions was achieved with a reduced vigabatrin dose of 25 mg/kg per day. We conclude that vigabatrin in SSADH deficiency should be administered in a gradually increasing dosage combined with frequent evaluation of the clinical condition and the EEG.

4-Aminobutyrate Transaminase↗
PubMed1996

Natural history and treatment effects in Guillain-Barré syndrome: a multicentre study.

A retrospective multicentre study was performed to investigate the natural history and treatment effects in childhood Guillain-Barré syndrome in a large number of patients. Structured questionnaires were sent to 155 paediatric hospitals for details of patients who conformed to internationally accepted diagnostic criteria and who were treated from spring 1989 to summer 1994. Sixty nine hospitals reported data of 175 patients aged 11 months to 17.7 years. At the height of the disease 26% of the patients remained able to walk, but 16% had to be artificially ventilated. The median time from onset of symptoms to first recovery was 17 days, to walk unaided 37 days, and to be free of symptoms 66 days. There was a large group with a benign and a smaller one with a more protracted course. At long term follow up, 98/106 patients were free of symptoms and the remainder were able to walk unaided. Maximum disability grade was the most powerful prognostic factor. In children unable to walk but not yet tetraplegic, immunoglobulins were able to accelerate recovery. Corticosteroids were less potent. Plasmapheresis could not be evaluated because it was administered only in the most severe cases. The natural history of Guillain-Barré syndrome in children is extremely variable and more benign than in adults. Treatment with immunoglobulins should be considered in patients unable to walk. Corticosteroids are not as effective and should be withheld except when, in protracted courses, suspicion of chronic inflammatory demyelinating polyneuropathy arises.

Acute Disease↗
PubMed1995

Dystonic posture of lower extremities associated with myelomeningocele: successful treatment with botulinum A toxin in a six-month-old child.

We report on a six-month-old child with severe intermittent dystonic posture of both legs associated to a thoraco-lumbar myelomeningocele. The patient presented with a combination of progressive hypertonic knee extension and hip flexion. While the mobility of the right leg improved sufficiently after physiotherapy and splinting, satisfactory improvement of the left leg could be achieved only after local injections of botulinum A toxin, allowing for adequate functional motor development.

Botulinum Toxins↗
PubMed1995

Exclusively intracranial cranial fasciitis in a child. Case report.

The authors present a case of an intracranial tumor in a 7-year-old girl leading to increasing hemiparesis. The lesion arose from the dura and consisted of fibroblasts in a myxoid matrix. The diagnosis of cranial fasciitis was made. The histological, immunohistological, and ultrastructural features of the tumor are described and the differential diagnosis is discussed.

Brain Diseases↗
PubMed1995

[Nasal BiPAP (bilevel positive airway pressure) respiration with controlled respiratory mode in neuromuscular diseases and severe kyphoscoliosis].

The BiPAP-System is a useful ventilatory support for patients with severe sleep apnea and need for high inspiratory pressure. Using the BiPAP as a full ventilatory support is new due to the recent addition of a timed control modus and individual control of inspiratory time. We used the new BiPAP ST-System in one young men with Duchenne-disease, one man with heredo ataxia (Friedreich), one women with spinal muscular atrophy, one man with central sleep apnea due to brainstem infarction as well as two women and one men with severe kyphoscoliosis. All patients had a significant hypoventilation and hypoxemia at night, which was documented by polysomnography. Mechanical ventilation at night with nasal BiPAP increased the baseline oxygen saturation (SaO2) by an average of 11.9% in all seven patients. The frequency of desaturations below 90% diminished by an average of 81%. The lowest SaO2 measured increased by 28% in all seven patients combined. Rhinitis due to the dryness of the inspired air were noticed in only two patients. Two other patients needed adaptation to the customized mask. The nasal BiPAP-System using the T-mode is a useful device to support ventilation at night and thus it could replace ventilatory support by the IPPV-mode in many patients.

Adult↗