Heparitin Sulfate Mucopolysaccharidosis (Sanfilippo Disease): A Case Study with Ultrastructural, Biochemical, and Radiological Findings

Abstract

Extract: A case study of a 14-year-old female child who developed normally for 18 months but subsequently deteriorated rapidly in mental status and social behavior is reported. Histochemical studies of tissues removed at biopsy from liver, skin, and bone marrow showed changes similar to those found in the Hurler syndrome. Ultrastructural changes of the liver were also similar to those found in the above syndrome with the exception of the presence of mitochondrial crystalloids not observed to date in the Hurler disease. Heparitin sulfate constituted the bulk of the acid mucopolysaccharides in the urine with only traces of chondroitin sulfate B present. In view of these observations and the lack of clinical and radiological findings generally associated with the Hunter and Hurler syndromes the diagnosis of Sanfilippo disease was made. Speculation: On the basis of the finding that the pattern of acid mucopolysaccharide (AMPS) excreted in urine in our patient differed from that of 12 other children with Sanfilippo disease [12], it is speculated that two subtypes of this disease exist characterized by different patterns of excretion of the AMPS in urine. Whether this difference will prove to be extended to other manifestations is not known at present, but it is conceivable that the difference in radiological findings (in our case minimal and nonspecific, in other cases resembling those of the Hurler and Hunter syndromes), degree of mental retardation, or morphological features, may parallel these biochemical differences. It would be important, therefore, to study other children with Sanfilippo disease in detail, to determine whether other variables are consistent with varying patterns of excretion of AMPS in urine.