Bone marrow transplantation (BMT) is a therapeutic option for patients with genetic storage diseases. Between 1979 and 2002, eight patients, four females and four males (1 to 13 years old) were submitted to this procedure in our center. Six patients had mucopolysaccharidosis (MPS I in 3; MPS III in one and MPS VI in 2), one had adrenoleukodystrophy (ALD) and one had Gaucher disease. Five patien...

A neonate presented with mucopolysaccharidosis-like phenotypic expression and typical signs of dysostosis multiplex but without urinary excretion of glycosaminoglycans. Investigations of lysosomal enzymes in cultured fibroblasts revealed a mucolipidosis type 2, known as I-cell disease. We describe the fatal course of the patient due to complications of an uncommon dilated cardiomyopathy in this...

1314 deformity with mesomelic dwarfism of both upper and lower limbs. It is. the commonest variety of mesomelic dwarfism(3). Madelung deformity may also be seen associated with diverse disorders such as mucopolysaccharidosis, Turner's syndrome, achondroplasia, dyschondroplasia (Ollier's disease), multiple exostosis and multiple epiphyseal dysplasia. Madelung's original description of the lesion...

Morquio syndrome or MPS IVA is a rare type of lysosomal storage disease associated with highly specific dental abnormalities. We present two siblings with enamel hypoplasia and skeletal abnormalities. A diagnosis of mucopolysaccharidosis type IVA was reached based on the clinical, radiographic, and dental findings of the patients. The dental findings are useful diagnostic aid for the early diag...

A 6 month-old infant presenting with severe mitral regurgitation was found to have hepatosplenomegaly, corneal clouding, and Alder-Reilly granules in the leucocytes. Extremely low levels of beta glucuronidase confirmed the diagnosis of Sly disease (Mucopolysaccharidosis VII). This is the first case of MPS VII reported from India.

After a herculean data-gathering effort, in this issue of Blood, Aldenhoven and colleagues from Europe and North America provide an eye-opening assessment of long-term neurocognitive, organ, joint, and tissue function after allogeneic transplantation of children with mucopolysaccharidosis type I–Hurler syndrome (MPS-IH), along with an analysis defining a path to better these outcomes.

ムコ多糖症は身体中に存在するムコ多糖が沈着する遺伝疾患であり，VII型は中でもまれな疾患である．過去の全身麻酔導入時に換気困難があったムコ多糖症VII型患児に対する全身麻酔を経験した．症例は7歳男児．2歳6カ月時に挿管直後に呼気性喘鳴と換気困難のため手術中止となった．今回の麻酔導入には拮抗可能な薬剤を用いて鎮静下で喉頭展開容易であることを確認することで安全に気道確保を行った．術中，術後ともに問題なく経過し退院した．一般的にムコ多糖症は麻酔管理上，気道確保が問題とされるが病型に依る．本症例では問題なく気道確保できたが，VII型はまれな疾患であり症例報告は少なく麻酔管理に関する経験の蓄積が必要である．

Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is a lysosomal storage disease in which heparan sulfate is accumulated in lysosomes, as well as outside of cells, as the primary storage material. This disease is a complex of four conditions caused by dysfunctions of one of genes coding for lysosomal enzymes involved in degradation of heparan sulfate: SGSH (coding for heparan N-...