title: Osteoporosis in Rett syndrome: a case study presenting a novel management intervention for severe osteoporosis.
abstract: The present article describes a successful novel therapeutic intervention with Aredia with one child with Rett syndrome, after suffering from six pathological fractures within less than 3 years due to severe osteoporosis. Since the initiation of the treatment (3 years ago), the child has not suffered any fractures. Patients with chronic diseases and those with disabilities or on anticonvulsant medications are at risk for low bone density and possibly for the resultant pathologic fractures that define osteoporosis in children. Individuals with Rett syndrome (RS) have been shown to have low bone mineral density (or osteopenia) at a young age. If osteoporosis occurs in a girl with RS, it can inflict pain and seriously impair the child's mobility and quality of life. The present article describes a case study of a child with RS (showing an average of 1.75 fractures annually for the 4 years preceding the treatment) before and after a treatment with Aredia. Patient received 30 mg/day for 3 days on a once every 3-month cycle. There was a 45 % improvement in bone mass density (BMD) values from pre-post-intervention. The child had no fractures in the 3 years posttreatment. This finding is significant (p < 0.03). The BMD Z-scores of the child showed severe osteoporosis (Z-score of -3.8) at pre-intervention and are elevated to osteopenia levels (Z-score of -1.3) at post-intervention measurements. All measurements suggest that the treatment successfully reversed the osteoporotic process and prevented further fractures. This change caused great relief to the child and her family and an improvement in their quality of life. The findings support the ability (in one case) to reverse the progression of osteoporosis in individuals with Rett syndrome showing severe osteoporosis with multiple fractures.
authors.affiliation: Israeli Rett Center, National Rett Syndrome Evaluation Team, Chaim Sheba Medical Center, Tel HaShomer, Ramat Gan, Israel, ml_pt_rs@netvision.net.il.
authors.forename: M
authors.initials: M
authors.lastname: Lotan
authors.forename: R
authors.initials: R
authors.lastname: Reves-Siesel
authors.forename: R S
authors.initials: RS
authors.lastname: Eliav-Shalev
authors.forename: J
authors.initials: J
authors.lastname: Merrick
mesh_terms: D015519:Bone Density / Q000187:drug effects; D050071:Bone Density Conservation Agents / Q000627:therapeutic use*; D004164:Diphosphonates / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D007223:Infant; D010024:Osteoporosis / Q000188:drug therapy* / Q000209:etiology* / Q000503:physiopathology; D058866:Osteoporotic Fractures / Q000503:physiopathology / Q000517:prevention & control; D000077268:Pamidronate; D015518:Rett Syndrome / Q000150:complications* / Q000503:physiopathology; D055502:Secondary Prevention
chemical_list: D050071:Bone Density Conservation Agents; D004164:Diphosphonates; D000077268:Pamidronate