Abstract
The clinical and radiological evolution of familial infantile bilateral striatal necrosis (IBSN) was evaluated in 11 of 15 affected children born to consanguineous Israeli Bedouin parents and reported from the Schneider Children’s Medical Center, Petah Tikva and Sackler School of Medicine, Tel Aviv University, and other centers in Israel.
Highlights
989). (Reprints: Dr Rachel Straussberg, Neurogenetic Clinic, Department of Neurology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel 49202)
The clinical and radiological evolution of familial infantile bilateral striatal necrosis (IBSN) was evaluated in 11 of 15 affected children born to consanguineous Israeli Bedouin parents and reported from the Schneider Children's Medical Center, Petah Tikva and Sackler School of Medicine, Tel Aviv University, and other centers in Israel
Biotin therapy resulted in arrest or improvement of disease in 2 patients when administered early, and slowed progression in the proband with treatment over a 15 month period
Summary
Signs of abnormal or delayed development (hypotonia and delayed motor milestones) are commonly observed in cases of Rett syndrome in the pre-regression period. Earliest and most frequent signs of regression are loss of hand use and communication skills. Developmental history can aid in detection of risk factors for Rett syndrome, and before the onset of growth delay, gait ataxia, and hand stereopathies. The clinical and radiological evolution of familial infantile bilateral striatal necrosis (IBSN) was evaluated in 11 of 15 affected children born to consanguineous Israeli Bedouin parents and reported from the Schneider Children's Medical Center, Petah Tikva and Sackler School of Medicine, Tel Aviv University, and other centers in Israel.
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