Idiopathic systemic capillary leak syndrome (SCLS) is a rare and life-threatening disorder of unknown pathology. It is characterized by recurrent episodes of shock resulting from leakage of plasma, which is reflected by accompanying hemoconcentration, hypoalbuminemia, and edema. Since its first description (Clarkson B, Thompson D, Horwith M, Luckey A. Am J Med. 1960;29:193–216), there have been only 3 descriptions of children with the disorder. Familial cases have not been reported. Brain involvement has only been described for adults and with minimal radiologic findings. We report here an unusual case of an 8-year-old boy with multiple episodes of SCLS since the age of 5 months and an exceptional presentation characterized by substantial neurologic involvement with cerebellar edema and autonomic dysfunction. The patient's family history was remarkable for 8 more relatives with the disorder, including his sister who died during a similar episode in infancy and a first-degree cousin of his father who was diagnosed as suffering from recurrent episodes of SCLS. Our patient is, to our knowledge, the first patient with SCLS with a family history of the disorder. Additional genetic studies in the extended family might shed light on the pathogenesis of this rare disorder.
- systemic capillary leak syndrome
- brain edema
- recurrent shock
- reversible posterior leukoencephalopathy syndrome
- Accepted December 1, 2009.
- Copyright © 2010 by the American Academy of Pediatrics