Bone microarchitecture in Rett syndrome and treatment with teriparatide: a case report.

We present the case of a 28-year-old female Rett syndrome patient with low bone mass and a recent fracture who was successfully treated with teriparatide. Bone mineral density and microarchitecture substantially improved after treatment. Rett syndrome (RTT), an X-linked progressive neuro-developmental disorder caused by mutations in the methyl-CpG-binding 2 (MECP2) gene, has been consistently associated with low bone mass. Consequently, patients with RTT are at increased risk of skeletal fractures. Teriparatide is a bone-forming agent for the treatment of osteoporosis that has demonstrated its effectiveness in increasing bone strength and reducing the risk of fractures in postmenopausal women, but, recently, its positive action has also been reported in premenopausal women. We present the case of a 28-year-old female RTT patient with low bone mass and a recent fracture who was successfully treated with teriparatide. Both bone mass measured by DXA and microarchitecture assessed by high resolution peripheral computed tomography (HR pQCT) were substantially improved after treatment.

Buspirone in Rett syndrome respiratory dysfunction.

This study details a case of Rett Syndrome where the patient's respiratory dysfunction was improved after buspirone was administered. Polygraphic studies in the waking state, before and after treatment with 5 mg of buspirone twice a day, were obtained. Breathing movements, oxygen saturation and end-tidal carbon were monitored. Average oxygen saturation increased from 86.9 to 91%, and the period of saturation below 90% was reduced by 42.2%. The oxygen saturation improvement observed in this case suggests that buspirone might be useful in treating respiratory dysfunction associated with Rett Syndrome. Controlled clinical trials are needed to provide more evidence.

Rett syndrome. The Puerto Rican experience.

We have diagnosed and followed four Puerto Rican females with Rett Syndrome (RS). Their ages, when first examined, ranged from 10 months to 11 years. The classical symptoms of decreasing head size, onset of hand wringing movements with deterioration of milestones as well as EEG abnormalities were present in all. Case No. 1, considered our index case was evaluated by us and lost to follow-up for many years while residing in the mainland U.S.A. where multiple evaluations failed to give a definite diagnosis. Upon her return to Puerto Rico she was diagnosed by us in retrospect as having RS. These are the first Puerto Rican girls reported with RS and in doing so we hope for a better understanding of the syndrome by our medical community. Because of the devastating effects of RS, early diagnosis and parental counseling will be beneficial for patients and their families.

Rett syndrome: the Puerto Rican experience

Hemos diagnosticado cuatro niñas puertorriqueñas con el Síndrome Rett (SR). Sus edades, al ser examinadas por primera vez, fluctuaron de 10 meses a 11 años. Los síntomas clásicos de disminución progresiva en el crecimiento de la cabeza, movimientos peculiares de las manos como lavándolas, deterioro en sus habilidades así como anomalías del EEG estuvieron presentes en todas ellas. Consideramos el caso 1 como el caso índice por haberla seguido por un largo tiempo, a pesar de que la perdimos en seguimiento mientras estuvo residiendo en los Estados Unidos donde múltiples evaluaciones le fueron hechas sin llegar a un diagnóstico definitivo. Fue reevaluada retrospectivamente a su regreso de Estados Unidos y su historia sugería el SR. Estas niñas son las primeras reportadas con el síndrome en Puerto Rico. Es nuestro propósito que la comunidad médica puertorriqueña esté alerta y comprenda mejor el SR. Debido a los efctos devastadores del SR es necesario un diagnóstico temprano y una consejería que beneficie tanto al paciente como a sus familiares.