摘要:

Neurological disorders related to growth disturbances in infancy and childhood are reviewed. They are grouped under the following headings: I. Short stature with normal body proportions. II. Short stature with special physical features. III. Rapid growth at least during early age. IV. Emaciation in spite of adequate food intake and absorption. V. Obesity. VI. Asymmetry of limbs. Reviewed are conditions with abnormal neurological findings, including severely retarded psychomotor development, and conditions with proved or supposed neurological background.

ISSN:0014-3022    

DOI:10.1159/000114407

出版商:S. Karger AG    

年代:1972

数据来源: Karger

摘要:

A pair of sibs is reported with severe growth retardation since infancy, lack of subcutaneous fat, aged appearance, severe mental retardation with possibly a progressive dementia and evidence of peripheral polyneuropathy. The correct labelling of this disorder is discussed in relation to cases previously reported under the heading of Donohue’s syndrome or leprechaunism or under the heading of Cockayne’s syndr

ISSN:0014-3022    

DOI:10.1159/000114410

出版商:S. Karger AG    

年代:1972

数据来源: Karger

摘要:

A boy was first noted to have partial optic atrophy, strabismus, cerebellar ataxia and delayed behavioural development after the age of 4 years. Subsequently he developed kyphosis and mild pes cavus; spasticity first became apparent in the legs, and a diagnosis of Behr’s syndrome was entertained. However, the disease progressed in a series of relapses with subsequent partial recovery. At 12½ years he was shown to have bilateral depression of labyrinthine function attributable to a lesion of central vestibular pathways. He had high-normal levels of blood lactate and plasma alanine and somewhat high urinary alanine output. A diagnosis of necrotizing encephalomyelopathy was made and was confirmed when the urine was shown to inhibit thiamine pyrophosphate-adenosine triphosphate phosphotransferase. During a further relapse with increased weakness impaired conduction in limb nerves was demonstrated. After slight improvement the boy’s condition deteriorated and he required respirator care and tracheostomy. Intravenous infusion of thiamine hydrochloride and thiamine propyl disulphide (15 mg/kg daily) failed to arrest the downward course. He died at 12 years 10½ months. Autopsy showed the characteristic changes of Leigh’s disease (SNE) which involved not only diencephalon and brain stem but also the optic nerves and chiasm, cerebellum, and cervical and thoracic portions of the spinal cord. The importance of considering necrotizing encephalomyelopathy in the differential diagnosis of hereditary ataxias in childhood is emp

ISSN:0014-3022    

DOI:10.1159/000114411

出版商:S. Karger AG    

年代:1972

数据来源: Karger

摘要:

Two clinically verified cases of Tay-Sachs disease and the family members of one of these cases were assayed for lysosomal enzymic activities in serum, leucocytes and skin biopsies. Among the enzymes assayed (mannosidase, galactosidase, galactosaminidase [including the A and B isoenzymes], fucosidase and acid phosphatase), the total galactosaminidase activity was found decreased in both skin biopsies and leucocytes of one of the two patients, In the other patient the isoenzyme A galactosaminidase activity was found relatively decreased in serum associated with an increase (147%) in the total serum activity. This was, however, not so in the first mentioned case, where the total serum activity was only 10% of the total serum activity of normal individuals. The assay of the lysosomal activities among family members made it possible to trace the carriers of the disease.

ISSN:0014-3022    

DOI:10.1159/000114412

出版商:S. Karger AG    

年代:1972

数据来源: Karger

摘要:

Studies on leukocyte antibodies in multiple sclerosis (MS) yielded positive results in 34% of 462 MS patients who were in the chronic stage of the disease, when the sera were tested at 15 °C against homologous lymphocytes of 10 cell donors bearing different HL-A antigens. The corresponding value in healthy controls was 7%. When autologous cells were used for demonstration of complement-dependant cold-reacting cytotoxins (auto-CoCoCy) the percentage of positive reactions rose up to 75%. No correlation of iso-CoCoCy with the HL-A antigens could be demonstrated. CoCoCy-positive sera did not react either with homologous or autologous lymphocytes at 37 °C. CoCoCy activity in sera was destroyed by means of 2-mercaptoethanol. The biological significance of CoCoCy in MS remains unclea

ISSN:0014-3022    

DOI:10.1159/000114413

出版商:S. Karger AG    

年代:1972

数据来源: Karger

摘要:

Twenty histocompatibility antigens of the 1st and the 2nd HL-A series have been determined in 200 MS patients and 255 randomly-selected healthy individuals of West Germany. Both groups differed significantly in 2 antigens of the 1st, and 2 of the 2nd HL-A series. Whereas the antigens HL-A3,HL-A10 and W5 were found more frequently in multiple sclerosis (MS) patients than in controls, the opposite was true for the antigen HL-A12. Brief comments as to the possible biological meaning of these findings are given.

ISSN:0014-3022    

DOI:10.1159/000114414

出版商:S. Karger AG    

年代:1972

数据来源: Karger

摘要:

A 40-year-old male developed a progressive neuropsychiatric illness and died 14 years later in a state of profound dementia and spastic tetraparesis. Pathologically, a primary dystrophic process of the centrum ovale had resulted in the formation of large periventricular cavities. The cerebellum was also involved. The case is viewed as a form of leucodystrophy of the sudanophil variety, although sudanophil lipids were scanty. Despite the lack of any obvious hereditary character in the case, a Löwenberg-Hill form of Pelizaeus-Merzbacher disease can also be considered a suitable diagnosis, provided one shares the view that Pelizaeus-Merzbacher disease (the classical type and its multiple subtypes as well), is nothing but another variant of sudanophil leucodystrophy. The latter is regarded as a morbid process rather than as a kind of disease entity. Little is thought of current nosologic labels based on crude clinico-pathological observations only infrequently supplemented with an adequate study of the pedigree and a sound chemical and ultrastructural investigation of the diseased tissues. Present-day ignorance of the exact etiopathogenesis makes it advisable to group under the heading ‘sudanophil leucodystrophy’ all such cases of endogenous white matter dystrophy, no matter how discrete the sudanophil character of the myelin breakdown may be and despite a broad spectrum of genetic, clinical and pathological variabi

ISSN:0014-3022    

DOI:10.1159/000114415

出版商:S. Karger AG    

年代:1972

数据来源: Karger

摘要:

A case of cerebellar encephalopathy with neuroblastoma is described, and a brief account is given of current knowledge on the aetiology of the 2 conditions, and possible lines of approach to the pathogenetic relations between them are put forward. The importance of neuroblastoma in the differential diagnosis of cerebellar encephalopathy in children is stressed.

ISSN:0014-3022    

DOI:10.1159/000114416

出版商:S. Karger AG    

年代:1972

数据来源: Karger

摘要:

Inborn lysosomal diseases with neurological symptoms are reviewed with special reference to the present possibilities of establishing a diagnosis with the help of enzymatic and biochemical methods in the affected child, in the fetus and in the healthy gene-carrier.

ISSN:0014-3022    

DOI:10.1159/000114417

出版商:S. Karger AG    

年代:1972

数据来源: Karger

摘要:

In 73 patients with severe temporal lobe epilepsy, seizure discharges in the scalp EEG were markedly enhanced during sleep in the vast majority of the cases. 14 of these patients also had depth EEG studies with exploration of the frontoorbital and the amygdaloid region. Most of these patients had an approximately equal amount of spike activity in the waking state and in sleep. Combined scalp and depth recording showed a much greater amount of spike activity in the depth. There is reason to assume that cortical and deep spikes are not demonstrable in the scalp EEG unless they arise synchronously from a rather large contingent of cells.

ISSN:0014-3022    

DOI:10.1159/000114418

出版商:S. Karger AG    

年代:1972

数据来源: Karger