Hypophosphatasia associated with pseudotumor cerebri and respiratory insufficiency.
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.
Teber
Serap
S
Pediatric Neurology, Faculty of Medicine, University of Ankara, Ankara, Turkey. seraptteber@hotmail.com
Sezer
Taner
T
Kafali
Mehpare
M
Kendirli
Tanil
T
Siklar
Zeynep
Z
Berberoglu
Merih
M
Ocal
Gonul
G
Deda
Gulhis
G
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
D000305:Adrenal Cortex Hormones