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Unusual early manifestation of multiple sulfatase deficiency

par Perlmutter, Noemi ;Libert, Jacques ;Vamos, Eszter ;Spehl, Marianne ;Liebaers, Ingeborg
Référence Annales de Radiologie Medecine Nucleaire, 24, 1, page (43-48)
Publication Publié, 1981

Article révisé par les pairs

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Résumé :

The case report concerns a rare disease consisting of a combination of MLD and MPS, until now less than 15 cases have been reported in the literature. Our patient presented with an unusual and exceptional early onset of the clinical manifestation more suggestive of MPS than of MLD. The changes were rapidly progressive and the infant died at 3 1/2 months of age. The clinical and radiological signs are described and compared with those of the other cases of the literature. The importance of an early diagnosis and the orientation value of the radiological signs are stressed.