Late diagnosis of hypophosphatasia in a case with Unverricht-Lundborg disease

A significant increase in the activity of serum alkaline phosphatase is commonly reported in patients on long-term antiepileptic treatment or after any uncomplicated fracture. We report a case of a 35-year-old male patient on five different anticonvulsant medications for treatment of the rare autoso...

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Bibliographic Details
Published in:Annals of clinical biochemistry 2019-07, Vol.56 (4), p.515-518
Main Authors: Zouwail, Soha, Longworth, Nathan, Grey, Joseph, Nesbitt, Mandy, Sisodiya, Sanjay, Hamandi, Khalid
Format: Article
Language:English
Subjects:
Adult
Alkaline Phosphatase - blood
Alkaline Phosphatase - genetics
Anticonvulsants - therapeutic use
Delayed Diagnosis
Humans
Hypophosphatasia - diagnosis
Male
Mutation
Unverricht-Lundborg Syndrome - drug therapy
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Summary:A significant increase in the activity of serum alkaline phosphatase is commonly reported in patients on long-term antiepileptic treatment or after any uncomplicated fracture. We report a case of a 35-year-old male patient on five different anticonvulsant medications for treatment of the rare autosomal recessive neurodegenerative disorder, Unverricht-Lundborg disease. He presented with bilateral metatarsal fractures: however, his serum alkaline phosphatase activity remained below the lower limit of reference interval. Biochemical laboratory investigations revealed a longstanding low serum alkaline phosphatase and raised plasma pyridoxal-5′-phosphate concentration. Sequencing of genomic DNA revealed that he is heterozygous for a mutation in the ALPL gene, which is consistent with the diagnosis of hypophosphatasia.
ISSN:0004-5632
1758-1001
DOI:10.1177/0004563219854110