Perinatal lethal hypophosphatasia: case report / Perinatal letal hipofosfatazya: olgu sunumu

• Published in: Turk Pediatri Arsivi p. 373
• Main Authors: Bozdag, Senol, Erdeve, Omer, Oguz, Serife Suna, Gokmen, Tulin, Uras, Nurdan, Dilmen, Ugur
• Format: Journal Article
• Language: Turkish
• Published: AVES 01.12.2010
• Subjects: Care and treatment; Case studies; Diagnosis; Hypophosphatasia; Turkey
• ISSN: 1306-0015
• DOI: 10.4274/tpa.45.373

Perinatal lethal hypophosphatasia is a rare inherited disorder characterized by due to defective bone and teeth mineralization deficiency of alkaline phosphatase activity. Intrauterine bone mineralization is markedly reduced in affected fetuses. The patient, who presented with soft skull with no impression of bone showed widened sutures, short and bowed tibia in addition to shorter proximal length when compared to distal parts in all extremities. Radiographic evaluation revealed poor bone mineralization. The severe clinical progress in addition to low alkaline phosphatase level (3 IU/L, N.185-350 IU/L) supported the diagnosis of perinatal lethal hypophosphatasia in this patient. We herein present a perinatal lethal hypophosphatasia newborn without prenatal diagnosis and aim to discuss this rare disorder in a newborn with skelatal deformity. (Turk Arch Ped 2010; 45: 373-6) Key words: Alkaline phosphatase, hypophosphatasia, newborn, perinatal lethal hypophosphatasia Perinatal letal hipofosfatazya alkalen fosfataz enzim aktivitesinin eksikligine bagli kemik ve dis mineralizyon bozuklugu ile belirgin nadir kalitimsal bir hastaliktir. Hastalarda intrauterin kemik mineralizasyonunda belirgin azalma gorulur. Dogum sonrasi palpasyonla yumusak ve kemik izlenimi vermeyen kafatasi ve genis acik suturleri olan olgu degerlendirildiginde ust ve alt ekstremitelerin proksimal kisimlarinin distale gore daha kisa oldugu, tibiyalarin kisa ve kavisli oldugu saptandi. Radyografik degerlendirmede kemiklerde zayif mineralizasyon gozlendi. Agir klinik gidise ek olarak, serum alkalen fosfataz duzeyinin (=3 IU/L, N.185-350 IU/L) cok dusuk saptanmasi hastada perinatal letal tip hipofosfatazya tanisini destekledi. Burada prenatal tanisi olmadan perinatal letal tip hipofosfatazya tanisi alan bir yenidogan olgusu sunularak, iskelet deformiteli yenidoganda nadir gorulen bu tablonun tartisilmasi amaclanmistir. (Turk Ped Ars 2010; 45: 373-6) Anahtar sozcukler: Alkalen fosfataz, hipofosfatazya, perinatal letal hipofosfatazya, yenidogan