B. Hagberg

BENIGN INTRACRANIAL HYPERTENSION (PSEUDOTUMOR CEREBRI): Review and Report of 18 Cases

Benign intracranial hypertension is one of several names given to a clinical syndrome of prolonged increased intracranial pressure, being due neither to a localized space process nor to the ‘acute brain swelling effects of meningitis or encephalitis. It occurs in association with various, etiologically known disorders such as sinus thrombosis and in some less well defined conditions such as para-infectious and allergic states. There is also an idiopathic form (7, 38). Synonymous names from the literature are: “pseudotumor cerebri”, “brain swelling of unknown cause”, “hypertensive meningeal hydrops”, “otitic hydrocephalus” and “toxic hydrocephalus”. The condition was first described by Quincke in 1893 (62) under the designation of serous meningitis. Nonne introduced the name pseudotumor cerebri in 1914 (55). Davidoff & Dyke in 1936 (13) demonstrated that this syndrome occurred in the presence of a normal ventricular system. In most cases air encephalography or angiography must be performed in order to exclude the possibility of brain tumor. These patients usually complain of headache, vomiting, blurring of vision and diplopia. In cases with closed cranial sutures, papilledema is always noted, and VIth nerve palsy and disturbed balance are some-

Prader‐Willi Syndrome in Boy of Ten with Prediabetes

In 1856 Prader, Labhart, Willi & Fanconi 17, 81 described a syndrome mainly characterized by mental deficiency, obesity, abnormally short stature. muscular hypotonia and undescended testes. The patients in whom they observed this syndrome had all been “floppy infants”. In 1961 Prader & Willi [9] brought the number of cases up to 14, and reported that the patients over 12 years of age often had diabetes mellitus. Shortly afterwards, Laurance [5 ] recorded six more cases. The same year Dunn & Miller [4] pointed out that the patient Dunn et al. [3] had described in an article on congenital hypotonia must have had the Prader-Willi syndrome; a t the same time they added three more cases. The syndrome is easy to distinguish clinically from other conditions. It is probably riot as rare as would appear from the number of cases reported. As yet nothing definite is known about its pathogenesis. We shall now describe a new case. Afterwards we shall analyze the clinical observations made to date to see if we can discover a plausible cause for the syndrome.

THE CONSERVATIVE MANAGEMENT OF INFANTILE HYDROCEPHALUS

There are still several unsolved and intriguing problems concerning the best method of management in the individual case of infantile hydrocephalus. The easiest way for the doctor is to decide immediately after diagnosis to devise a shunt for diverting the accumulating amounts of CSF. However, it is a general experience today that all these surgical procedures are subject to numerous complications in the form of different sorts of shunt blockage, detachments and septic infections. In addition, with a few exceptions, these children have been considered to be dependent on their shunts for the rest of their lives. On the other hand, series of untreated hydrocephalic children (3, 4 6) have clearly shown that no few cases-both within the group of spina bifida cystica and that of simple hydrocephalus-have a clear disposition towards spontaneous arrest after the first years of life. At follow-up (3, 4), some of these patients were found to have a particular brain damage syndrome, obviously due to a chronically increased intraventricular pressure in spite of the arrest of abnormal expansion of the skull. Other patients-though relatively few-were found to be in perfect mental, motor and neurological condition. The most difficult problem seems to be that of establishing distinct criteria for differentiation during early infancy between patients who must be operated upon to avoid brain

Mosaic trisomy of an autosome in the 6-12 group in a patient with multiple congenital anomalies.

Three autosomal trisomies are known to be associated with well defined clinical syndromes. They are mongolism with 21 trisomy [lo], 13-15 trisomy [12] and 17-18 trisomy [3]. An extra autosome among the chromosomes of the 6-12 group in all cells of the body seems in most instances to be lethal and has hitherto, except in spontaneous abortions [2, 221, only been reported in a mentally retarded girl with multiple anomalies [7]. However, chromosome studies were made only on peripheral blood cells. Normal/6-12 trisomy mosaicism, on the other hand, i.e. the presence of a certain proportion of normal cells together with cells with 47 chromosomes, seems to have less drastic effects. To our knowledge 6 such cases of possible mosaic trisomy for a 6-12 autosome have been reported [a, 6, 13, 17, 19, 20, 211. Furthermore, a premature non-viable infant has been reported [HI, who possessed two abnormal stemlines, one with an additional small chromosome and another with an additional autosome in group 6-12. We have observed a further case of mosaic trisomy for one of the autosomes in the 6-12 group 44 67287 1 Acta Pzdiat Scand 56 in a mentally retarded boy with multiple anomalies, including agenesis of the corpus callosum.

FAMILIAL ATAXIC DIPLEGIA WITH DEFICIENT CELLULAR IMMUNITY A New Clinical Entity

In 1966 a girl with vaccinia gangrenosa successfully treated with N-methylisatin /3-thiosemicarbazone (Marboranm, Burroughs Wellcome & Co.) was reported 1(8). During recovery, at the age of 15 months, she was found to have an ataxic diplegia which had not been observed previously. At that time it was not known whether the neurological defect was 1) a sequela of the severe disease, 2) a toxic sideeffect of MarboranB, or 3) unrelated to the disease and its treatment. Later on a younger brother, who had not been vaccinated against variola, was found to have an identical neurological syndrome. Both siblings also showed evidence of deficient cellular immunity. At the age of 4 3/4 years the girl died of generalized varicella during steroid treatment of a hemolytic anemia. The post mortem examination, reported elsewhere (l), revealed pathological findings in the central nervous system thought neither to be due to the final acute disease nor to the vaccinia gangrenosa or its treatment. The aim of this paper is to complete the previous reports (1, 8) with a detailed neurological follow up of the two siblings, and with immunological data on the younger boy.

THE PTERYGIUM-COLLI SYNDROME IN THE MALE. A CLINICAL, HISTOLOGICAL, AND CYTOGENETIC STUDY OF TWO CASES.

In phenotypical females with gonadal dysgenesis most cases are chromatin negative, with a chromosome number of 45 and an XO sex chromosome constitution. This was the first chromosomal constitution to be described in Turner’s syndrome [9, 101. Some females with gonadal dysgenesis are chromatin positive. Chromosomal analyses in these cases have shown a variety of X-chromosome anomalies, including XOjXX mosaicism, isochromosomes and deletions of the X-chromosome, but a few of them have had a normal female karyotype [5, 17, 221. Women are occasionally seen who have P61.

INJURY OF THE SPINAL CORD AT BIRTH

ABSTRACT: Lbid berg, U., Hagberg, B., Olsson, Y. and Sourander, P. (Department of Paediatrics II and Institute of Pathology, University of Göteborg, and Institute of Pathology, University of Uppsala, Sweden), Injury of the spinal cord at birth. A report of two cases. Acta Paediatr Scand, 64:546, 1975.–Spinal cord injury may occur as a severe complication to delivery. In the vast majority of such cases the injury results from a traumatic breech delivery, but cases of injuries after cephalic presentation and fetal malposition have also been described. Two cases are reported. One of the infants died at the age of 8 months and neuropathologies! examination of the brain and spinal cord was performed. The other child, now 6 years old, is still alive. Incidence, mechanism of injury, clinical and morphological features, and treatment are briefly discussed.

DEVELOPMENT OF PÆDIATRIC NEUROLOGY

Abstract The diagnosis and care of children with acute and chronic neurological disorders is a part of the work of all doctors who care for children. The investigation and treatment of children with rare, complex, or obscure neurological disorders can often only be undertaken in specialised units of paediatric neurology which have access when necessary to the special facilities of large neurological and neurosurgical and other units dealing primarily with adults. The continuing care of children with neurological disorders requires close cooperation between paediatric and community services. Both need to be increased to meet the needs of children. The facilities for undergraduate, vocational, and continuing training in developmental paediatrics urgently need to be increased. Every regional paediatric academic centre should have an academic paediatric neurology unit, providing clinical care, research, and teaching in developmental paediatrics and in the acute and chronic neurological disorders of childhood.