Severe normotensive metabolic alkalosis in a 2-month-old boy with hyperekplexia

Schlapbach L.J., Sozzo A., Ramelli G. and Bianchetti M.G. (2006) Severe normotensive metabolic alkalosis in a 2-month-old boy with hyperekplexia. Journal of Inherited Metabolic Disease, 29 1: 238-239. doi:10.1007/s10545-006-0082-9


Author Schlapbach L.J.
Sozzo A.
Ramelli G.
Bianchetti M.G.
Title Severe normotensive metabolic alkalosis in a 2-month-old boy with hyperekplexia
Journal name Journal of Inherited Metabolic Disease   Check publisher's open access policy
ISSN 0141-8955
Publication date 2006
Sub-type Article (original research)
DOI 10.1007/s10545-006-0082-9
Volume 29
Issue 1
Start page 238
End page 239
Total pages 2
Language eng
Subject 1310 Endocrinology
1311 Genetics
2716 Genetics (clinical)
Abstract A 2-month-old infant with hereditary hyperekplexia, umbilical and bilateral inguinal hernias and history of poor feeding was noted to have severe normotensive metabolic alkalosis: Sodium 132 mmol/L, potassium 3.4 mmol/L, chloride 77 mmol/L, pH 7.55, carbon dioxide tension 56.3 mmHg and bicarbonate 48.0 mmol/L. After parenteral rehydration and treatment with clonazepam, laboratory parameters normalized.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
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