Vol. 27 No. 121 (1986), Clinical cases
Vol. 27 No. 121 (1986)

Gangliosidosis type 1 (Norman-Landing disease)

Clinical cases
Published 2026-04-28
Rafael Palencia
Hospital Clínico Universitario. Departamentos de Pediatría y Oftalmología. Hospital Clínico Universitario. Valladolid
C. Martín
Hospital Clínico Universitario. Departamentos de Pediatría y Oftalmología. Hospital Clínico Universitario. Valladolid
F. Tresierra
Hospital Clínico Universitario. Departamentos de Pediatría y Oftalmología. Hospital Clínico Universitario. Valladolid
A. Guerra
Hospital Clínico Universitario. Departamentos de Pediatría y Oftalmología. Hospital Clínico Universitario. Valladolid
Portada nº 121
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1.
Palencia R, Martín C, Tresierra F, Guerra A. Gangliosidosis type 1 (Norman-Landing disease). Bol Pediatr. 2026;27(121):233-237. Accessed May 15, 2026. https://boletindepediatria.org/boletin/article/view/2112
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Abstract

The authors report the case of a male patient with regressive picture presenting coarse facies, hepatomegaly, cherry red spot. In radiographic study, enlarged ribs and deformities of vertebral bodies were striking. The biochemical tests showed a deficiency of beta­ galactosidase enzyme confirming the diagnosis of GMi gangliosidosis type 1 (Norman-Landing disease). The parents had a decreased activity of this enzyme. Convulsive crisis, beyond control, started at one year age. The patient died when it was 15 months old.

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