Sanfilippo disease, type C: three cases in the same family.

  title={Sanfilippo disease, type C: three cases in the same family.},
  author={Imen Mehri Turki and Hans Kresse and Jacques Scotto and Marc Tardieu},
  volume={20 2},
Six siblings were followed, three of them suffering from a Sanfilippo disease, type C, as demonstrated by a deficient glucosamine acetyltransferase activity in cultured skin fibroblasts. Clinical and radiological findings were similar in the three affected children and the phenotypical expression of the disease allowed no distinction between the different types of Sanfilippo disease. Ultrastructural studies of the liver demonstrated characteristic intra-vacuolar inclusions. 
Second trimester prenatal diagnosis of Sanfilippo syndrome type C
Sanfilippo syndromes or mucopolysaccharidosis type III are inherited disorders that result from a deficiency in one of the four following lysosomal enzymes involved in the degradation of heparanExpand
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.
It is demonstrated that MPS IIIC has a milder course than previously reported and that both severity and clinical course are highly variable even between sibs, complicating prediction of the clinical phenotype for individual patients. Expand
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece
Analysis of clinical manifestations at diagnosis and over a 6–7 years follow‐up indicated that almost all patients with MPSIII expressed neurological manifestations before the age of 5 years, including language acquisition delay, cognitive delay, and/or abnormal behavior, in contrast to relatively homogeneous early onset manifestations. Expand
Clinical and Neuroradiological Aspects of the Different Types
The authors show definite demyelination and widening of the perivascular space in a number of patients with MPS type VI, who additionally suffered from progressive visual deficits, caused by ocular and/or optic nerve involvement. Expand
Progressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC
A new mouse model of MPSIIIC recapitulates the human disease, with progressive CNS and somatic lysosomal pathology, and shortened lifespan, which provides a useful tool for the study of disease physiopathology and the development of new therapeutic approaches. Expand
The natural history of neurocognition in MPS disorders: A review.
The goal of this paper is to review neurocognitive natural history studies to determine the current state of knowledge and assist in directing future research in all MPS disorders. Expand
  • 1990
146. AL-GAZALI, L. I., ARTHUR, R. J., LAMB, J . T., HAMMER, H. M., COKER, T. P., HIRSCHMANN, P. N., GIBBS, J . , MUELLER, R. F. (1989) ‘Diagnostic and counselling difficulties using a fullyExpand
Diagnostic Electron Microscopy