title: Hypophosphatasia associated with pseudotumor cerebri and respiratory insufficiency.
abstract: We report a 3-month-old male with infantile hypophosphatasia who later developed Pseudotumor cerebri. At the age of 3 months, he was referred to our hospital because of pneumonia and respiratory insufficiency. He had short extremities, and radiographs of the bones were consistent with lack of metaphyseal mineralization and bowed lower extremities. Vomiting and bulging fontanelle developed 3 months after admission, and CSF opening pressure was notably high at 430 mm/H2O. Hypophosphatasia is a very rare cause of pseudotumor cerebri. This report is the first case where PTC is associated with hypophosphatasia and responded well to corticosteroid therapy.
authors.affiliation: Pediatric Neurology, Faculty of Medicine, University of Ankara, Ankara, Turkey. seraptteber@hotmail.com
authors.forename: Serap
authors.initials: S
authors.lastname: Teber
authors.forename: Taner
authors.initials: T
authors.lastname: Sezer
authors.forename: Mehpare
authors.initials: M
authors.lastname: Kafali
authors.forename: Tanil
authors.initials: T
authors.lastname: Kendirli
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Siklar
authors.forename: Merih
authors.initials: M
authors.lastname: Berberoglu
authors.forename: Gonul
authors.initials: G
authors.lastname: Ocal
authors.forename: Gulhis
authors.initials: G
authors.lastname: Deda
mesh_terms: D000305:Adrenal Cortex Hormones / Q000627:therapeutic use; D006801:Humans; D007014:Hypophosphatasia / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D007223:Infant; D008297:Male; D011559:Pseudotumor Cerebri / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D012131:Respiratory Insufficiency / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D016896:Treatment Outcome
chemical_list: D000305:Adrenal Cortex Hormones