1/3. Successful unrelated mismatched cord blood transplantation in a child with malignant infantile osteopetrosis.Allogeneic hematopoietic stem cell transplantation represents the only curative option for malignant infantile osteopetrosis (MIOP), a rare disease of infants and young children, characterized by excessive accumulation of mineralized bone and abnormal hematopoiesis. We report a case of successful engraftment and stable full-donor chimerism in a patient with MIOP who underwent unrelated donor cord blood transplantation (CBT). The donor was 2-loci human leukocyte antigen (HLA)-mismatch. After a conditioning regimen based on the combination of busulfan, cyclophosphamide, total body irradiation, and antithymocyte globulin, the patient received a dose of 3.85 x 10(7)/kg of nucleated cells. Neutrophil and platelet engraftment had been achieved by day 33 and 82, respectively, and the patient was discharged home on day 89. A successful engraftment of donor hematopoiesis was demonstrated and the child experienced grade II acute graft-vs.-host disease (GVHD) involving the skin only. A remarkable but non-progressive decrease in lumbar spine bone mineral density was observed in the first nine months post-transplant. This case suggests that unrelated donor CBT may be a feasible option in case of unavailability of a fully HLA-matched related or unrelated donor.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/3. osteopetrosis presenting with paroxysmal trigeminal neuralgia. A case report.osteopetrosis is a rare disease of unknown aetiology. The relentless bone growth may progressively obliterate the various craniofacial skeletal foramina leading to nerve compression and a diversity of neurological disorders. A case is reported of a 37-year-old woman who was seen because of frequent attacks of paroxysmal trigeminal neuralgia (PTN); other orofacial neurologic deficits and generalised craniofacial skeletal thickening. The prompt recognition and management of associated disorders such as PTN is emphasized. Despite the lack of definitive treatment modalities for both osteopetrosis and PTN, the patient's quality of life must be sustained.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/3. osteomyelitis of the mandible. An initial feature in late-onset osteopetrosis.osteopetrosis is a rare disease that may be seen with numerous disorders referable to the head and neck. It occurs in both a malignant and a benign form. The benign form is consistent with a long life span and, when clinically manifest, often does so as osteomyelitis of the mandible. An awareness of this association greatly simplifies diagnosis through standard osseous roentgenograms. The findings of osteopetrosis so characteristic on standard osseous roentgenograms may be inapparent if only mandibular roentgenograms are obtained.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |