Summary
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.
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References
Miozzari HH, Tönz M, von Vigier RO, Bianchetti MG (2001) Fluid resuscitation in infantile hypertrophic pyloric stenosis. Acta Paediatr 90: 511–514.
Praveen V, Patole SK, Whitehall JS (2001) Hyperekplexia in neonates. Postgrad Med J 77: 570–572.
Sabatini S (1996) The cellular basis of metabolic alkalosis. Kidney Int 49: 906–917.
Schorderet DF, Pescia G, Bernasconi A, Regli F (1994) An additional family with Startle disease and a G1192A mutation at the α1 subunit of the inhibitory glycine receptor gene. Hum Mol Genet 3: 1201.
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Communicating editor: Georg Hoffmann
Competing interests: None declared
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Schlapbach, L.J., Sozzo, A., Ramelli, G. et al. Severe normotensive metabolic alkalosis in a 2-month-old boy with hyperekplexia. J Inherit Metab Dis 29, 238–239 (2006). https://doi.org/10.1007/s10545-006-0082-9
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DOI: https://doi.org/10.1007/s10545-006-0082-9