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[Role of folic-acid deficiency in deficiency diseases of the nervous system. Apropos of 12 cases including an anatomo-clinical case].

The authors report 12 cases of neurological syndromes due to folic acid deficiency, due in 8 cases to chronic alcoholism. In 5 cases there was polyneuritis, 3 cases had cerebellar atrophy, whilst 4 patients had subacute combined degeneration of the cord. Folic acid deficiency occurred alone in five cases out of twelve, as in 3 cases vitamin B1 deficiency was associated, and in four cases there was malabsorption of vitamin B12. A neuropathological study of these cases showed: 1) moderate involvement of the mamillary tubercles as observed in deficiency encephalopathies. 2) severe peripheral nerve involvement especially of axonal type. 3) involvement of the anterior horns of the spinal cord with appearances of central chromatolysis and a few atrophic neurones.

Adult↗
PubMed1977

Acquired zinc deficiency disease of skin.

Two patients, who were on long term parenteral hyperalimentation, developed skin lesions similar to those seen in acrodermatitis enteropathica. Both patients were treated with oral zinc sulphate and their skin lesions cleared completely. These patients are presented as an acquired zinc deficiency syndrome.

Female↗
PubMed1977

A new juvenile hexosaminidase deficiency disease presenting as cerebellar ataxia. Clinical and biochemical studies.

A boy with mild hand tremor since age 2 1/2 was found at 4 to have cherry-red spots and mild trucal ataxia without seizures or dementia. Biochemically, he had striking hexosaminidase deficiency (serum: 4.6 percent of normal, 88.9 percent heat-labile; leukocyte: 2.2 percent of normal, 84.6 percent heat-labile; fibroblast 12.8 percent normal, 93.1 percent heat-labile). The residual hexosaminidase activity migrated electrophoretically in two bands. The major band comigrated with hexosaminidase A, the minor with hexosaminidase S. Hexosaminidase B was totally absent. The parents had partially reduced hexosaminidase with a decreased heat-stabile fraction. This disorder may result from a new mutation closely related to that causing Sandhoff-Jatzkewitz disease.

Cerebellar Ataxia↗
PubMed1978

Clinical and experimental transplantation in enzymatic deficiency disease.

Allotransplantation provides another strategy for the treatment of metabolic diseases. In disorders which primarily affect a specific tissue or organ, appropriate allografts have already proved therapeutically effective. Most of these diseases presumably result from dominantly inherited structural genetic defects. Metabolic transplantation, the grafting of tissues for the continuous production of the normal gene products, can provide effective treatment in appropriate, inherited, metabolic diseases. However, it must be emphasized that this approach is exploratory, and further studies in experimental model systems must be continued. Future advances in immunology and transplantation biology may increase the potential effectiveness of allotransplantation for the treatment of metabolic diseases.

Animals↗
PubMed1975

Transfer factor as an approach to the treatment of immune deficiency disease.

Use of transfer factor in the treatment of chronic mucocutaneous candidiasis is discussed. The clinical experience in treating 2 patients with different clinical expressions of the syndrome and their different responses to treatment with repeated injections of transfer factor given in conjunction with amphotericin-B are reported. Results indicate that this form of therapy is a safe and effective way of restoring cell-mediated immunity to Candida and successfully treating some patients with chronic mucocutaneous candidiasis.

Amphotericin B↗
PubMed1975

[Tuberculous meningitis and antibody deficiency disease (author's transl)].

A 13 year old girl not vaccinated with BCG became ill with tuberculous meningitis. After administration of 30 g of Streptomycin, cell counts and protein concentrations of the cerebro-spinal fluid returned to normal values. After continuation of antituberculous therapy without Streptomycin, the patient relapsed, and Streptomycin had to be given for 14 months. Defect in humoral immunity was diagnosed with low IgG and low titers of antiviral antibodies. For this reason the patient was additionally treated with passive administration of antibodies.

Adolescent↗
PubMed1978

The two human lactosylceramidases and their respective enzyme activity deficiency diseases: inhibition studies using p-nitrophenyl-beta-D-galactoside.

Total lactosyl ceramide beta-galactosidase (LC) activity from normal and pathologic human leukocytes and tissues was subdivided into LC I (EC 3.2.1.46) and LC II (EC 3.2.1.23) activity by means of specific inhibition of LC II with 5 mM p-nitrophenyl-beta-D-galactoside (Ki = 1.5 mM). In globoid-cell leudodystrophy, inhibition of total LC was nearly complete (only LC II is active), whereas in GM1-gangliosidosis Type 1, very little inhibition was found (only LC I is actict). Total LC activity was not significantly low in either of the diseases, which have different genetic origins. The ratio of LC I to LC II activity may display remarkable genetic variation in normal probands.

Child↗