Status epilepticus as the only presentation of the neonatal Bartter syndrome.

Autor: Patra S; Department of Pediatric Medicine, N.R.S Medical College and Hospital, Kolkata, India., Konar MC, Basu R, Khaowas AK, Dutta S, Sarkar D
Jazyk: angličtina
Zdroj: Indian journal of endocrinology and metabolism [Indian J Endocrinol Metab] 2012 Mar; Vol. 16 (2), pp. 300-2.
DOI: 10.4103/2230-8210.93775
Abstrakt: Bartter syndrome is a rare hereditary (autosomal recessive) salt-losing tubulopathy characterized by hypokalemia, hypochloremia, metabolic alkalosis, and normal blood pressure with hyperreninemia, The underlying renal abnormality results in excessive urinary losses of sodium, chloride, and potassium. We report a case of a four-month-old infant with neonatal Bartter syndrome, who presented only with status epilepticus. To the best of our present knowledge, there is no reported case of Bartter syndrome who presented with status epilepticus.
Databáze: MEDLINE