Polineuropatía amiloidótica familiar: dos nuevos casos de presentación tardía, con numerosos familiares portadores asintomáticos / Familial amyloid polyneuropathy: two new cases of late onset, with many asymptomatic carriers in the family

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[Bone marrow transplantation in mucopolysaccharidosis type I, Hurler-Scheie variety. Metabolic correction and clinical results]. / Transplante de médula ósea en mucopolisacáridos tipo I, variedad de Hurler-Scheie. Corrección metabólica y efectos clínicos.

Bone marrow transplant has proved to be an effective treatment in some hereditary metabolic diseases and, especially, in mucopolysdaccharidosis (MPS). A 9-year-old girl, of consanguineous parents, with MPS Type I, Hurler-Scheie syndrome, received a BMT from her heterozygous, HLA-compatible mother. -L-iduronidase activity in leukocytes and fibroblasts was undetectable and glycosaminoglycans (GAG) excretion in urine was very high. BMT conditioning treatment consisted of Busulfan (16 mg/kg) and Cyclophosphamide (120 mg/kg); clinical course was uneventful. Sixty days post-BMT iduronidase activity in leukocytes was similar to that of the donor and GAG levels were normal at 12 months. Echocardiography showed regression in hypertrophic myocardiopathy. Previously enlarged and vacuole-filled skin fibroblasts became reduced in size and vacuole content. The most notable clinical effects were: improved facial features, increased height, disappearance of visceromegalies, gradual clearing of corneal opacities with improved vision and reduced joint stiffness. It is concluded that the gradual deterioration in patients with MPS-I may be arrested and many clinical features improved by BMT.

[Nerve graft predegenerated in situ, and fresh nerve graft. Comparative study in the rabbit]. / Greffe nerveuse prédégénérée "in situ", et greffe nerveuse fraîche. Etude comparative chez le lapin.

Experimental studies have been made in rabbits in which an operative gap in the nerve was bridged either with a fresh nerve graft taken from the opposite side or with a degenerate graft, the nerve on the opposite side having been divided 15 days earlier. Technical details of the method are described. An electromyographic study demonstrated better results with the predegenerate graft and histological examination showed a better maturation of the axons.