Natural history of Christianson syndrome

Christianson syndrome is an X-linked mental retardation syndrome characterized by microcephaly, impaired ocular movement, severe global developmental delay, hypotonia which progresses to spasticity, and early onset seizures of variable types. Gilfillan et al. [2008] reported mutations in SLC9A6, the gene encoding the sodium/hydrogen exchanger NHE6, in the family first reported and in three others. They also noted the clinical similarities to Angelman syndrome and found cerebellar atrophy on MRI and elevated glutamate/glutamine in the basal ganglia on MRS. Here we report on nonsense mutations in two additional families. The natural history is detailed in childhood and adult life, the similarities to Angelman syndrome confirmed, and the MRI/MRS findings documented in three affected boys

Interferon Beta-1b and Childhood Multiple Sclerosis

The long-term treatment with interferon beta-1b of a 7-year-old male with relapsing-remitting multiple sclerosis is documented. Thirty-two months after initiating treatment, he demonstrates dramatic clinical improvement, without relapse, despite high titers of neutralizing antibodies to interferon beta-1b. It appears reasonable to attribute a role in his improvement to interferon beta-1b

Cardiopulmonary Bypass Factors Affecting the Development Of Choreoathetosis in Pediatric Patients

Choreoathetosis (CHO) in pediatric patients following cardiopulmonary bypass (CPB) has no known etiology, although several causal factors have been suggested. The infrequent occurrence in any one institution and the inability to perform prospective studies have made the etiology of CHO difficult to discover. This paper discusses a retrospective analysis of eleven cases of CHO following CPB. To form a control group for matched comparison, each of the eleven CHO patients was matched with a patient who did not develop CHO. Matching parameters included: age at operation within 10%, diagnosis (cyanotic, not cyanotic), race, gender, operation, and date of operation within 12 months. Fifteen preoperative and CPB variables were evaluated to determine differences between the CHO patients and the control patients. Statistical analysis included odds ratios for matched pairs and two sample t-tests. A p value of 0.05 was chosen to assess statistical significance. Variables found to be significantly different between the study and control groups were: lowest rectal temperature, cooling and warming rates, and lowest arterial blood temperature. From these results, it is concluded that cooling to rectal temperatures less than 15°C or a cooling rate greater than 0.4°C /min is associated with the development of CHO following CPB in these patients