Hyperphosphatasia with neurologic deficit: a pyridoxine-responsive seizure disorder?

Pediatric Neurology
Miles D ThompsonPaul A Hwang

Abstract

This report describes the case of a 4 1/2-year-old female with developmental delay and tonic-clonic seizures, persistently elevated serum alkaline phosphatase activity, and low serum pyridoxal 5'-phosphate. Born at term to consanguineous parents, she was dysmorphic and delayed at 5 months. At 11 months, seizures and microcephaly were evident but skeletal and cerebral imaging, karyotyping, and genetic metabolic tests were unremarkable. Serum alkaline phosphatase activity, however, was elevated (1.3 +/- 0.6 times greater than the upper limit of normal) on seven occasions between 5 months and 4(1/2) years of age. Hyperphosphatasia with neurologic deficit (MIM #239300), a rare autosomal recessive disorder, was diagnosed. The low serum levels of pyridoxal 5'-phosphate (6 nmol/L; normal >20 nmol/L) prompted a pyridoxine challenge. A clinically significant but paradoxical response was observed. On electroencephalography, diffuse delta slow waves (1-2 Hz) were observed, suggestive of stage 3 or 4 slow-wave sleep. With daily administration of 100 mg pyridoxine and withdrawal of phenobarbital, seizures were not evident. We suggest that serum alkaline phosphatase should be measured in cases of seizures with paradoxical electroencephalogra...Continue Reading

References

Mar 1, 1988·The Journal of Pediatrics·K KruseG Gross-Selbeck
Jul 1, 1970·The Journal of Pediatrics·C C MabryJ A Koepke
Oct 1, 1970·Archives of Disease in Childhood·W J Gomes, J L Hunter
Mar 1, 1995·Journal of Child Neurology·K Watanabe
Jul 1, 1993·Epilepsia·S OhtaharaM Sato
May 25, 2002·Journal of Child Neurology·Magda Lahorgue NunesRenato Machado Fiori
Apr 11, 2003·Biochimica Et Biophysica Acta·Peter Baxter
Oct 29, 2003·Developmental Medicine and Child Neurology·Kathleen BaynesSidney M Gospe
Mar 23, 2004·Pediatric Neurology·Hitoshi YamamotoNoriko Kamiyama

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Citations

Feb 20, 2013·Pediatric Neurology·Monisha GoyalKeith Hyland
Feb 4, 2016·Stem Cells International·David EstèveDavid Magne
Mar 11, 2008·Best Practice & Research. Clinical Rheumatology·Etienne Mornet
Feb 9, 2012·American Journal of Medical Genetics. Part a·Miles D ThompsonDavid E C Cole
Jun 26, 2010·American Journal of Medical Genetics. Part a·Miles D ThompsonDavid E C Cole
Apr 4, 2015·Annual Review of Neuroscience·Hudson H FreezeMarc C Patterson
Aug 29, 2014·Journal of Inherited Metabolic Disease·Bobby G Ng, Hudson H Freeze
May 15, 2016·Brain & Development·Jiao XueZhixian Yang
Apr 1, 2018·Human Mutation·Thi Tuyet Mai NguyenPhilippe M Campeau
Jul 29, 2018·Clinical Genetics·Kara Bellai-DussaultPhilippe M Campeau
Mar 14, 2018·Human Genome Variation·Tomohiro SakaguchiIvo Barić
May 27, 2020·Epilepsia·Allan BayatRikke S Møller
Apr 8, 2021·Brain & Development·Junpei TanigawaKeiichi Ozono
Jun 12, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Camille Tremblay-LaganièreYoshiko Murakami

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