[Sonography of the optical nerve -- experience in 483 children]. / Die Sonographie des Nervus opticus -- Erfahrungen bei 483 Kindern.

INTRODUCTION: In case of increased intracranial pressure (IICP), the inflow of cerebrospinal fluid widens the space between the optic nerve (ON) itself and the surrounding dura mater leading to the sonographic appearance of increased diameter of the ON. The purpose of the study was to gain clinical experience in children and to determine (a) the mean values for patients without proven IICP and (b) pathologic values of those with proven IICP. MATERIALS AND METHODS: Ultrasound of the optic nerve was performed in 483 children with symptoms consistent with IICP, comprising 287 males and 196 females at an age ranging from 4 days to 24 years with a mean age of 7.5 + 5.1 years. The measured diameter of the ON of both eyes and the morphologic criteria concerning nerve sheath and papilla were evaluated retrospectively. RESULTS: Most of the investigated patients (n = 466) had no IICP as confirmed by neurological examination, EEG, sometimes CCT and/or MRI and clinical follow-up. The typical morphological findings in patients with normal intracranial pressure (ICP) were a clear and longitudinally extended demarcation of the ON with a well-delimited nerve sheath and without prominent papilla. The mean diameter of the ON in patients with normal ICP was 3.4 mm + 0.7 mm. In 17 patients with proven IICP, the mean diameter of the ON increased to 5.6 mm + 0.9 mm. Typically, the nerve sheath was indistinguishable from the hypoechoic ON, often but not invariably associated with a prominent papilla. In patients with IICP, the diameter of the ON alone matches the diameter of the ON plus nerve sheath in patients with normal ICP. CONCLUSION: IICP was detected with a high sensitivity by ultrasound using the diameter and the morphological criteria of an indistinguishable nerve sheath. A diameter of more than 4.5 mm is definitely pathologic and requires further investigation. Prominence of the papilla is an unreliable criterion for acute IICP.

Topography of spectral EEG and late VEP components in patients with benign rolandic epilepsy of childhood.

We studied 11 patients (7-15 years of age) with benign rolandic epilepsy of childhood. Spontaneous EEG and flash evoked potentials were recorded from 19 channels. Following visual stimulation, five of the patients displayed a late sustained component over temporal and central scalp regions (mean latency: 194.8 ms). The occurrence of this component was related to the spectra of spontaneous EEG and clinical parameters. Significant topographical differences were observed between the EEG amplitude spectra of patients with and without a N200 component. The effects were most evident in the lower alpha (7.5-9.5 Hz) and beta band (13-15 Hz) when temporal, parietal and occipital regions of the left and right hemisphere were compared. There was also a tendency that children without N200 displayed more hypersynchroneous activity in the spontaneous EEG than children with N200. This suggests a protective role of focal interictal spikes, and probably coincides with a benign prognosis of epilepsy.

Clinical and biochemical consequences of copper-histidine therapy in Menkes disease.

Menkes disease (MD) is an X-linked recessively inherited neurodegenerative disorder of copper (Cu) metabolism leading to death in early childhood. Symptoms are attributed to deficient activity of Cu-dependent enzymes. Limited experience has been reported concerning clinical and biochemical consequences of parenteral treatment with copper-(histidine)2-complex (Cu-His) in MD. Cu-His was administered in a 13-week-old boy with MD by daily intramuscular injections. After 6 weeks of therapy, Cu and caeruloplasmin in serum and Cu in CSF were normalized. The excessive dopamine level in CSF was corrected after 3 months of treatment. After 6 weeks of Cu supplementation, complete reduction of epileptic discharges, improved muscular tone and increased motor activities were observed. Developmental regression stopped and was replaced by a slight progression. Death at the age of 19 months was caused by septicaemia due to a fulminant urinary tract infection; there was no evidence of chronic Cu toxicity. These findings suggest that Cu-His supplementation may be a promising palliative treatment in MD.

Implanted pump systems for treatment of spasticity.

In about one third of patients with violent spasticity due to spinal trauma, multiple sclerosis, and diffuse brain injury adequate control with oral antispastic medication cannot be achieved and successful rehabilitation is severely handicapped. In the past these patients were subjected to destructive chemical procedures or extensive surgery. The authors present the results of management of uncontrollable spasticity by means of continuous intrathecal administration of baclofen with a totally implantable gas driven pump system (Infusaid). 30 patients were treated between June 1985 and January. 1987. The main indication was incapacitating spasticity resistant to oral treatment with baclofen and caused by spinal cord injury or lesion (11 patients), multiple sclerosis (11 patients), infantile cerebral palsy (3 patients) and cerebral injury, hypoxia or ischaemia (5 patients). Clinical assessment included spasticity scores, integrated electromyography (Iemg) and motography. Effective control for spasticity with mean reduction of Iemg by 55%, decrease of Ashworth's score from 3 to 0 and improvement of life quality was obtained in all patients with daily dose of 10-800 micrograms of Baclofen. Voluntary resting motoricity was not impaired and there were no untoward central side effects. The excellent effect of intrathecal baclofen in comparison with oral therapy is explained by local, spinal GABAergic inhibitory action of the drug which is delivered directly into spinal subarachnoid space. Dose finding and dose adjustment is performed prior to pump implantation by intermittent injections into a subcutaneous port. The complications of the procedure were minor (catheter displacement, disconnection) and easily correctable.(ABSTRACT TRUNCATED AT 250 WORDS)

The effect of intrathecal baclofen on electrical muscle activity in spasticity.

The efficacy of intrathecally administered baclofen was demonstrated in three patients with different types of muscular hypertonia (supraspinal rigidity, spasms shortly after spinal trauma, spasms for many years induced by multiple sclerosis) using integrated electromyography. Reduction of muscular electrical activity was accompanied by clinical improvement during long-term infusion via an implanted pump. The three patients have been observed for more than 1 year, during which time the antispastic activity of intrathecally infused baclofen has remained stable. Intrathecal application of baclofen may be considered as a possible alternative to surgery.

[Huntington chorea in childhood]. / Die Chorea Huntington im Kindesalter.

By the case report of a 7 years old girl problems and difficulties in diagnosing early manifested Chorea Huntington are discussed. Dementia, rigor and akinesis are the presenting signs; choreatic movements are usually not present. Seizures occur frequently. Family history gives important informations; the autosomal dominant gene mostly is transmitted by the father. Although knowledges of biochemical changes in movement disorders are increasing, there are presently only a few possibilities to ameliorate signs and symptoms of chorea by pharmacological measures.

Serum magnesium level and sleep behavior of newborn infants.

Polygraphic studies were performed in 14 full-term newborns. The sleep behavior of the infants was correlated to the serum Mg level. correlations could be demonstrated between serum Mg and active sleep, as well as between serum Mg and quiet sleep. With increasing Mg quiet sleep increased, whereas active sleep decreased. After Mg injection quiet sleep increased and active sleep decreased even more. There were also corresponding correlations between serum Mg and rapid eye movements, submental muscle tone, and gross body movements.

[Connections between respiratory regulation and paradoxical sleep in a patient with Joubert's syndrome (author's transl)]. / Zusammenhängè zwischen Atemregulation und paradoxem Schlaf bei einem Patienten mit Joubert-Syndrom.

This study reports on eight patients whose cases have been described in literature, and two patients treated by the author, showing the typical signs of Joubert's syndrome. This disease pattern is characterised by episodic hyperpnoeas and apnoeas, retardation, muscular hypotension, opsoclonia, complete or partial agenesis of the vermiform process of cerebellum, as well as a dilated fourth ventricle. The clinical symptoms are compared with the characteristic signs of REM sleep and of cataplexy.