Hypophosphatasia Presenting with Pyridoxine-Responsive Seizures, Hypercalcemia, and Pseudotumor Cerebri: Case Report
Journal Title: Journal of Clinical Research in Pediatric Endocrinology - Year 2012, Vol 4, Issue 1
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.
Authors and Affiliations
Hüseyin Demirbilek, Yasemin Alanay, Ayfer Alikaşifoğlu, Meral Topçu, Etienne Mornet, Nazlı Gönç, Alev Özön, Nurgün Kandemir
Keywords
Related Articles
- EP ID EP86612
- DOI -
- Views 188
- Downloads 0
Genetics of Obesity
The genetic basis of predispositon to obesity has been recognised for a long time. Several single gene-defects in rodents and humans cause the development of obesity. However these are extremely rare and an increase in g...
Safety of Growth Hormone Treatment
Growth hormone (GH) is being used in the treatment of GH deficiency and in the treatment of other conditions with increasing frequency. Several uncommon potentially adverse events including idiopathic intracranial hypert...
Al-Awadi/Raas-Rothschild Syndrome in a Newborn with Additional Anomalies
Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare phocomelia syndrome characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and abnormal facial features including clef...
Diagnosis of Growth Hormone Deficiency: the role of Growth Hormone (GH), Insulin-Like Growth Factor (IGF-I) and IGF-Binding Protein (IGFBP-3)
Despite dramatic changes in the treatment of growth hormone (GH) deficiency from cadaveric pituitary growth hormone to recombinant human growth hormone, the diagnosis of idiopathic growth hormone deficiency remains a cha...
Melnick-Needles Syndrome Associated with Growth Hormone Deficiency: A Case Report
Melnick-Needles syndrome is an X-linked dominant bone dysplasia characterized by a typical facies (exophthalmos, full cheeks, micrognathia, and malalignment of teeth), flaring of the metaphyses of long bones, s-like curv...