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Dergiler / Turkish Journal of Hematology / 2002 / Cilt: 19 - Sayı: 3

Infantile malignant osteopetrosis: Delay in diagnosis eliminates chance of cure

Nazan SARPER
Kadir BABAOĞLU
METİN AYDOĞAN
Gülcan TÜRKER
Hülya AKAÇ
Ayşe S. GÖKALP
Sayfa
411–415
DOI
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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

Diagnosis was infantile malignant osteopetrosis but the patient can not be referred to bone marrow transplantation due to delay in diagnosis and irreversible visual and hearing loss and lack of medullary space for marrow engraftment.

📌 3 Maddede Bu Makale

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Amaç & Hipotez:A 4.5 year-old girl presented with abdominal distention, failure to thrive, visual and hearing loss.
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Temel Bulgular & Veri:When she was 15 month-old, she had ventriculoperitoneal shunt and surgical transection of the filum terminale due to tethered cord.
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Sonuç & Katkı:Diagnosis was infantile malignant osteopetrosis but the patient can not be referred to bone marrow transplantation due to delay in diagnosis and irreversible visual and hearing loss and lack of medullary space for marrow engraftment.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Çocuk · Nöral tüp defektleri · Ölümle sonuçlanma

Özet

A 4.5 year-old girl presented with abdominal distention, failure to thrive, visual and hearing loss. In her medical history there was meningitis in the neonatal period, convulsions, enlargement of her head, nistagmus and exophtalmus at the tenth month. When she was 15 month-old, she had ventriculoperitoneal shunt and surgical transection of the filum terminale due to tethered cord. When she was 3 year-old she had headaches and swallowing difficulties and she underwent suboccipital craniectomi and C1 laminectomi. On admission to our Center she had normal mental and motor development, high arched palate, only three teeth, hepatosplenomegaly, weight and height below 3 percentile, leukoerythroblastic anemia and thrombocytopenia. Roentgenograms of bones showed sclerosis and no medullary tissue could be obtained in bone marrow biopsy. Diagnosis was infantile malignant osteopetrosis but the patient can not be referred to bone marrow transplantation due to delay in diagnosis and irreversible visual and hearing loss and lack of medullary space for marrow engraftment.

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Bu Makaleye Atıf Yap

SARPER, N., BABAOĞLU, K., AYDOĞAN, M., TÜRKER, G., AKAÇ, H., GÖKALP, A. S. (2002). Infantile malignant osteopetrosis: Delay in diagnosis eliminates chance of cure. Turkish Journal of Hematology, Cilt: 19 - Sayı: 3, 411–415. https://ajindex.com/articles/413428

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Kaynakça (17)

  1. Dent CE, Smellie JM, Watson L. Studies in osteopetrosis. Arch Dis Child 1965;40:7-15
  2. Loria-Cortes R, Quesada-Calva E, Cordero-Chaverri C. Osteopetrosis in children: A report of 26 cases. J Pediatr 1977;91:43-7
  3. Fraser D, Kooh SW, Chan AM, Cherian AG. Congenital osteopetrosis-a failure of normal resorptive mechanism of bone. Calcif Tissue Res 1968;2(Suppl): 52-61
  4. Brown DM, Dent PB. Pathogenesis of osteopetrosis: A comparison of human and animal spectra. Pediatr Res 1971;5:181-91
  5. Lehman RAW, Reeves JD, Wilson WB, Wesenberg RL. Neurologic complications of infantile osteopetrosis. Ann Neurol 1977;2:378-84
  6. In: Behrman RE, Kliegman RM, Jenson HB (eds). Nelson Textbook of Pediatrics. Disorders involving defective bone resorption. 16th ed. Philadelphia: WB Saunders Company, 2000:2125-6
  7. Abinun M, Newston T, Rowe PW, Flooda TJ, Cant AJ. Importance of neurologic assessment before bone marrow transplantation for osteopetrosis. Arch Dis Child 1999;80:273-4
  8. Loutit JF, Nisbet NW. Resorption of bone. Lancet 1979;2:26-8
  9. Reeves JD, August CS, Humbertt JR, Weston WL. Host defense in infantile osteopetrosis. Pediatrics 1979;64:202-6
  10. Reeves JD, Huffer WE, August CS, Hathaway WE, Koerper M, Walters CE. The hematopoetic effects of prednisone therapy in four infants with osteopetrosis. J Pediatr 1979;94:210-4
  11. Van Lie Peters EM, Aranson DC, Everts V, Dooren LJ. Megadose methylprednisolone treatment for malignant osteopetrosis. Eur J Pediatr 1994;153:779-80
  12. Kubo T, Hiroyuki T, Ono H, Moriwake T, Kanzaki S, Yoshiki S. Malignant osteopetrosis treated with high dose of 1 α-hidroxyvitamin D3 and interferon gamma. J Pediatr 1993;123:264-8
  13. Takahashi N, Mundy GR, Roodman GD. Recombinant human interferon-γ inhibits formation of human osteoclast-like cells. J Immunol 1986;137: 3544-9
  14. Götlin G, Erivsson JLE. The osteoclast: Review of ultrastructure, origin and structure-function relationship. Clin Orthop 1976;120:201-31
  15. Walker DG. Bone resorption restored in osteopetrotic mice by transplants of normal bone marrow and spleen cells. Science 1975;190:784-5
  16. Ballet JJ, Griscelli C, Coutris C, Milhaud G, Maroteaux P. Bone-marrow transplantation in osteopetrosis. Lancet 1977;2:1137
  17. Dini G, Floris R, Garaventa A, Oddone M, Stefano FD, Marco RD, Calcagno E, Faraci M, Claudiani F, Manfredini L, Dallorso S, Lanino E, Morella G. Long-term follow-up of two children with variant of mild autosomal recessive osteopetrosis undergoing b