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Hypophosphatasia presenting with pyridoxine-responsive seizures, hypercalcemia, and pseudotumor cerebri: case report.
- Source :
-
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2012 Mar; Vol. 4 (1), pp. 34-8. - Publication Year :
- 2012
-
Abstract
- Hypophosphatasia (HPP) is an inborn error of metabolism characterized by defective bone mineralization caused by a deficiency in alkaline phosphatase (ALP) activity due to mutations in the tissue-nonspecific ALP (TNALP) gene. The clinical expression of the disease is variable. Six forms of HPP are identified according to age at presentation and clinical features. Patients with the infantile form are normal at birth. First symptoms appear within the first 6 months of life. Along with skeletal findings, HPP patients may present with hypercalcemia, seizures, pseudotumor cerebri, and pulmonary insufficiency. Seizures in HPP are refractory to conventional antiepileptic drugs, but are responsive to pyridoxine. Herein, we report a case of HPP who presented with pyridoxine-responsive seizures in the early neonatal period and was found to have hypercalcemia, skeletal demineralization and increased intracranial pressure.
- Subjects :
- Alkaline Phosphatase genetics
Consanguinity
Diagnosis, Differential
Fatal Outcome
Homozygote
Humans
Hypercalcemia etiology
Hypophosphatasia complications
Hypophosphatasia genetics
Infant
Male
Mutation
Pseudotumor Cerebri etiology
Pyridoxine therapeutic use
Seizures drug therapy
Seizures etiology
Hypercalcemia diagnosis
Hypophosphatasia diagnosis
Pseudotumor Cerebri diagnosis
Seizures diagnosis
Subjects
Details
- Language :
- English
- ISSN :
- 1308-5735
- Volume :
- 4
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Journal of clinical research in pediatric endocrinology
- Publication Type :
- Academic Journal
- Accession number :
- 22394703
- Full Text :
- https://doi.org/10.4274/jcrpe.473