Prenatal diagnosis of an infratentorial subdural hemorrhage: case report.

We report a case of a prenatally diagnosed infratentorial subdural hemorrhage. The hematoma located in the posterior cerebral fossa was detected by conventional ultrasound at 24 weeks of gestation. Intrauterine magnetic resonance imaging confirmed the diagnosis. Autopsy of the fetus revealed a well-circumscribed subdural hematoma. The prenatal findings of intracranial bleeding located in the posterior fossa and the prognosis of such cases are discussed.

Granular-cell tumour: a rare suprasellar mass.

Granular-cell tumour is a rare suprasellar space occupying lesion, which usually presents with visual deterioration, endocrine deficits or headache. We present two women with extraordinarily large tumours, measuring 3.8 and 4.0 cm in diameter. In both cases the tough, vascular tumour could be removed only subtotally.

MRS of the brain in patients with anorexia or bulimia nervosa.

Twenty patients with anorexia or bulimia nervosa were prospectively investigated by magnetic resonance spectroscopy (MRS) of the brain. Compared to healthy controls, MRS of those with eating disorders revealed metabolic changes, which seem to be a consequence of their nutritional deficiency.

Metabolic changes in the brain of patients with anorexia and bulimia nervosa as detected by proton magnetic resonance spectroscopy.

OBJECTIVE: To investigate the brain of patients with anorexia and bulimia nervosa by localized proton magnetic resonance spectroscopy (1H-MRS) and to look for metabolic alterations. METHOD: Twenty patients with anorexia and bulimia nervosa were investigated by magnetic resonance imaging (MRI) and 1H-MRS in three regions of the brain. Age and sex-matched healthy subjects were investigated as controls. RESULTS: 1H-MRS revealed metabolic changes, such as a significant decrease of both myo-inositol and lipid compounds within the frontal white matter. The concentration of these compounds was further reduced with decreasing body mass index. Reduced lipid signals were also found in the occipital gray matter. In the cerebellum, the concentration of all metabolites including water, except lipids, was increased. DISCUSSION: The metabolic changes found in this study seem to be a consequence of nutritional deficiency. It has to be further investigated whether these findings have any relevance for brain function. 1H-MRS might serve as a valuable investigative tool to observe eating disorders as anorexia and bulimia nervosa and to follow the success of therapy.

The neonatal progeroid syndrome (Wiedemann-Rautenstrauch) and its relationship to Pelizaeus-Merzbacher's disease.

The neuropathology of a clinically well-documented case of the neonatal progeroid syndrome Wiedemann-Rautenstrauch is described. The most striking feature was a nearly complete absence of mature myelin in the brain. When immunohistochemistry for myelin basic protein was applied, some subcortical nerve fibres were accompanied by immature myelin sheaths. The neuropathology corresponds exactly to that of Pelizaeus-Merzbacher disease (Seitelberger type). Furthermore, this morphology, with the presence of myelin basic protein in the absence of mature myelin sheaths is reminiscent of the early stages of myelination in the newborn. From a brief review of the literature on Wiedemann-Rautenstrauch syndrome, we conclude, that the neuropathology of the syndrome is heterogeneous, and that there is relationship between the progeroid aspect and pathological myelination.

Congenital tetraplegia, respiratory insufficiency, and hypoplasia of medulla oblongata.

A term infant with normal delivery presented with congenital tetraplegia and respiratory insufficiency just after birth. Magnetic resonance tomography on days 8 and 72 of life revealed an extreme thinning of the lower medulla oblongata. Endoscopy confirmed this and demonstrated the presence of vascular anomalies around the lesion which were not detectable by angiography. It is presumed that this is a malformation of the lower medulla oblongata.

[EEG changes in type I and type II lissencephaly]. / EEG-Veränderungen bei Typ I und Typ II Lissenzephalien.

Lissencephaly syndromes are rare disturbances of the neuronal migration with agyria and/or pachygyria. Typical patterns in the EEG of 5 children with lissencephaly are presented. Rhythmic alpha- or beta-waves with high amplitudes of diffuse or fronto-precentral localisation are characteristic in type I lissencephaly. In type II lissencephaly initially theta- or delta-waves of somewhat lower amplitude are observed. Sharp and slow wave-complexes of very high amplitude are found more often in type I lissencephaly. They seem to correlate with the severity of the brain malformation and the epilepsy. In both types of lissencephaly the spatial organisation of the background activity and the sleep-wake differentiation are absent. The EEG of most type I lissencephalies show no reactivity to intravenous benzodiazepines. With increasing age the frequency of the background activity and of the high amplitude rhythmic waves decrease in type I and increase in type II lissencephaly. A complete dedifferentiation of the EEG tracings has been observed in the course of type I lissencephaly. Lissencephaly is diagnosed by imaging techniques. However, with a high probability lissencephaly can be suspected already by its EEG.

[Acute spinal syndromes in children and adolescents]. / Akute spinale Syndrome bei Kindern und Jugendlichen.

23 children with acute spinal syndromes are presented. The clinical signs were caused by trauma in 11 patients, by extramedullary tumors in 6, by operations (coarctation of the aorta, scoliosis) in 4 and by encephalomyelitis in 2. Motor signs (flaccid paraplegia or paraparesis, monoplegia, bilateral weakness) and changes of reflex intensities were always observed. Most children presented with disturbances of sensory functions and micturition, some exhibited ataxia. In addition to the neurological signs, plain films of the spine were of diagnostic importance after trauma, for tumors myelography and/or computerized tomography were most useful. The unfavourable prognosis of posttraumatic paraplegia may be improved by early application of corticosteroids in very high doses. The value of GM1-ganglioside is controversial. In cases of external compression by tumors a decompression of the spinal cord is urgent. "Spinal cord monitoring" can be used intraoperatively in surgery of scoliosis and coarctation of the aorta to detect neurological complications early. Differential diagnosis and therapies of encephalomyelitis and Guillain-Barré-Syndrome are discussed.

Dysphagia in dermatologic disease.

Disorders of the oral cavity, pharynx, and esophagus may be found in some dermatologic diseases. The connective tissue diseases especially may be accompanied by dysphagia. Furthermore, some rare inflammatory and bullous dermatologic diseases can lead to esophageal disorders. Finally, some infectious and malignant diseases occurring in human immunodeficiency virus (HIV)-infected patients cause dysphagia (Table 1). The following discussion presents a comprehensive review of these diseases and their typical esophageal dysfunction.

[Lissencephalia syndromes]. / Lissenzephaliesyndrome.

Lissencephaly is in most cases a genetic anomaly of the brain development with agyria and/or pachygyria. It causes severe psychomotor retardation and epilepsy, which is often resistant to therapy. Some patients with type-I lissencephaly show cranial and facial dysmorphism and a deletion of chromosome 17p13.3 (Miller-Dieker syndrome). The isolated lissencephaly sequence occurs without these features. Patients with type-II lissencephaly present additional malformations of the posterior fossa and of the eyes (Walker-Warburg syndrome) and in some cases muscular dystrophy (cerebro-oculomuscular syndrome). Lissencephaly can be suspected with a high probability by its typical EEG. It is proved by imaging techniques. Therapeutic success is limited, the life expectancy is strongly reduced.

Non calcific vasculopathy in the basal ganglia.

Stripes of high echogenicity in the basal ganglia of infants have been rarely observed on cerebral ultrasound. These lesions, which appear to be due to a non calcific vasculopathy, are caused, in the majority of cases, by congenital infections and trisomy 13. We describe four infants with the characteristic ultrasonic appearance of this vasculopathy. Two children had cytomegalovirus (CMV) infection, one a human immunodeficiency virus (HIV) infection. The fourth child who presented a malformation of the skull and eye anomalies had no definitive diagnosis. Of the three surviving children one was developing normally. One had mild and one severe psychomotor retardation.

[Brain circulation in residual cerebral damage. A Doppler ultrasound study]. / Hirndurchblutung bei zerebralen Residualschäden. Eine Doppler-Sonographische Studie.

Transcranial Doppler recordings of flow velocities in 5 cerebral arteries were performed in children with cerebral palsy or with focal epileptic discharges. In 22 children with severe bilateral cerebral palsy as an average the flow velocities were 55% of the norm. In 8 of 10 children with spastic hemiplegia, the velocities were reduced at least in one artery of the affected side. 7 of 11 children with a mixed focus and 4 of 18 children with a pure epileptic focus in the EEG presented reduced velocities within the artery belonging to the focus. The results and other studies indicate a reduced cerebral blood flow in severe cerebral palsy with may be caused by vascular, metabolic, bioelectric or pharmacologic factors.

Maternal vegan diet causing a serious infantile neurological disorder due to vitamin B12 deficiency.

We present a 9-month-old exclusively breast-fed baby of a strict vegetarian mother who had excluded all animal proteins from her diet. The patient's symptoms included dystrophy, weakness, muscular atrophy, loss of tendon reflexes, psychomotor regression and haematological abnormalities. Biochemical investigations revealed severe methylmalonic aciduria and homocystinuria in the patient, slight methylmalonic aciduria in the mother and low concentrations of serum vitamin B12 in both patient and mother.

[A conservative, surgery-delaying attitude in the treatment of concomitant hydrocephalus in patients with meningomyelocele]. / Konservative, abwartende Haltung in der Behandlung des Begleithydrozephalus bei Patienten mit Meningomyelozele.

Between 1978 and 1987 5 out of 16 hydrocephalic patients with Arnold Chiari malformation and a meningomyelocele underwent a non-operative management. They showed normal mental development. Through meticulous clinical and neurological examinations as well as regular ultrasound and CT controls, it was possible to treat them conservatively.

[Psychosocial dwarfism in three siblings]. / Psychosozialer Kleinwuchs bei drei Geschwistern.

Three siblings with deprivation dwarfism are described. Special investigations did not reveal any pathological findings apart from retarded bone age in two children and metaphyseal growth lines. The three siblings demonstrated immediate catch-up growth after removal from the deprivating environment. Problems of etiology, diagnosis and treatment are discussed.

[Lipoma of the corpus callosum as a constituent of Goldenhar syndrome]. / Balkenlipom als Bestandteil des Goldenhar-Syndroms.

A newborn infant with clinical signs of the Goldenhar-syndrome was found to have a lipoma of the corpus callosum documented both by cranial sonography and computerized tomography. The association of lipoma of the corpus callosum and Goldenhar-syndrome is discussed and in view of the recent literature, it is concluded that lipoma of the corpus callosum like other recently observed intracranial lesions is indeed an additional manifestation within the spectrum of the Goldenhar-syndrome.

[Value of external drainage for therapy of intracranial hemorrhage in the neonatal period and childhood]. / Der Stellenwert der externen Drainage für die Therapie der intrakraniellen Blutung im Neugeborenen- und Kindesalter.

A follow-up study was done on 92 newborn and infants with subdural and intraventricular haemorrhage. External drainage is discussed as the primary therapy of choice. Its efficiency especially in chronic subdural haematoma is exemplified. Advantages and disadvantages of this therapy compared against intermittent puncturing, craniotomy and shunt therapy are discussed.

[Rett syndrome: a progressive neurological syndrome in girls]. / Rett-Syndrom: ein progredientes neurologisches Syndrom bei Mädchen.

Rett syndrome, named after Rett's first description in 1966, evolves typically in 3 stages: after normal early psychomotor development up to the age of 6-24 months, stagnation and regression occur over a few months resulting in severe dementia, loss of speech, of social response and of purposeful hand use. This is accompanied by particular stereotyped hand movements and usually also by deceleration of head growth. The further course is often stable for a prolonged period, or only slowly progressive. Common features are seizures, episodic hyperpnea, scoliosis, spasticity and vasomotor disturbances of lower limbs. Rett syndrome has been observed only in girls, all cases (with 2 exceptions) being sporadic. This is probably explained by a X-linked dominant new mutation lethal in males. The pathogenesis is still unknown: no consistent metabolic, morphologic or neuroradiologic abnormalities have been found. According to some epidemiologic investigations, Rett syndrome affects about 1:15,000 girls and is thus responsible for a considerable proportion of severely retarded girls. Within one year the authors have retrospectively diagnosed 15 cases, which is assumed to represent only about a third of patients in Switzerland.

[Anticonvulsive prophylaxis after juvenile craniocerebral injuries: a retrospective evaluation]. / Die Antikonvulsionsprophylaxe nach kindlichem Schädelhirntrauma: Eine retrospektive Beurteilung.

A check-up of 124 children with medium to severest contusio cerebri showed a posttraumatic late epilepsy rate of 8% at an average control period of 12 years. A third of all children received a long-term anticonvulsive prophylaxis of approximately 4 years, under which 13% showed a manifest late epilepsy, while the rate of the non-protected group was 6% (each 5 patients). Even with a full anticonvulsion therapy it was not possible to avoid further convulsion in any of the children. By these results and new publications, a posttraumatic anticonvulsive prophylaxis is questioned and it is recommended to start an anticonvulsion therapy only if late epilepsy has become definitely manifest.