Gaucher disease case report

What is evident immediately on attempting to develop a therapy for any particular LSD is the scant (and for many LSDs, virtually absent) information on disease pathophysiology. Beyond recognition of the enzyme deficiency responsible for the disease and the biochemistry of the accumulating substrate, much of the literature is in the form of case reports on individuals or small patient sets, often with minimal characterization of disease pathology. The paradox is that a more complete body of literature only develops after an effective treatment becomes available (e.g., Gaucher and Fabry diseases). Considerable initial research is therefore needed by any company seeking a successful therapeutic for a specific LSD. 

Poll LW, Maas M, Terk MR, Roca-Espiau M, Bembi B, Ciana G, Weinreb NJ (2002) Response of Gaucher bone disease to enzyme replacement therapy. Br J Radiol 75[Suppl 1] A25-A36 Radermakers RP (1995) Radiologic evaluation of Gaucher bone disease. Semin Hematol 32[Suppl 1] 14-19 Ramo BA, Kyriakos M, McDonald DJ (2006) Osteosarcoma without radiographic evidence of tumor case report. Clin Orthop 442 267-272... 

In contrast to what is observed in Tay-Sachs and in Neimann-Pick diseases, Gaucher s disease is not restricted to young children, but develops also in adults and even in old people. The first symptoms of the disease have been reported to occur in patients of 70 years however, at least one-third of Gaucher s disease cases are infants or young children. 

Morrison, A. N., and M. Lane Gaucher s disease with ascites a case report with autopsy findings. Ann. intern. Med. 42,1321 (1955). 

Aballi, A.J., Kato, K. Gaucher s disease in early infancy A review of literature and report of case with neurological symptoms. J. Pediat. 

The subcellular localization of a heat-stable D-glucocerebrosidase activator substance in spleen from a case of Gaucher s disease has been investigated. The substance was shown to be an activator of the enzyme in normal human tissues, and the observations reported indicate that the activator is associated with the storage deposits contained in lysosomes of the Gaucher cell. 

The cerebroside content of the brain is very low and comparable to that of the infantile brain (Rouser et al. 1965). There is no increase with progression of the disease. Since cerebrosides and sphingomyelin are the main components of the myelin-lipids, a decrease of these classes is in accordance with the histologic finding of demyelination (Brante 1949, Johnson et al. 1949). Similar changes occur in Niemann-Pick disease with central nervous system involvement, in meta-chromatic leucodystrophy and in Alzheimer s disease (Rouser et al. 1965). The case of WiLDi (1950) which has been reported as a mixed type of TSD and Gaucher s disease is an exception since here cerebrosides were increased in addition to gangliosides. 

Osseous form of Gaucher s disease, report of a case. Arch, intern. Med. 61, 798 (1938). 

Mandlebaum, F. S., and H. Downey The cases of Gaucher s disease reported by Drs. Knox, Wahl, and Schmeisser. Bull. Johns. Hopk. Hosp. 27, 104 (1916). 

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