OBJECTIVE
Hypophosphatasia (HPP; MIM241510) is a rare inborn error of bone metabolism of recessive inheritance. It is caused by mutations in the gene encoding the tissue-nonspecific alkaline phosphatase. Apart from problems in bone mineralization, growth failure, and premature loss of decidual
The patient, a 78-year-old female with history of headache and progressive gait disturbance for almost one year, was admitted to our department because of dysphagia and dysphonia since three months before. Neurological examination revealed nystagmus, cerebellar ataxia, deafness, and vesical