Olgu Sunumu

A Rare Case Report OF A Newborn That May Be Confused With Rickets Aad Other Metabolic Bone Dısorders: I-Cell Disease

Cilt: 47 Sayı: 6 26 Eylül 2025
Osmangazi Tıp Dergisi Kapak
Osmangazi Tıp Dergisi
PDF İndir
TR EN

A Rare Case Report OF A Newborn That May Be Confused With Rickets Aad Other Metabolic Bone Dısorders: I-Cell Disease

Öz

I cell disease (Mucolipidosis II) is a rare autosomal recessive lysosomal storage disease characterised by severe skeletal abnormalities, intrauterine growth retardation, coarse facial appearance, progressive psychomotor retardation, thickening of the skin, gingival hyperplasia, hernias and early death. It is caused by a deficiency of N-acetylglucosamine 1-phosphotransferase which is normally found in the endoplasmic reticulum or Golgi apparatus. Since the clinical, biochemical and laboratory findings of the disease mimic rickets, the diagnosis may be difficult at the beginning

Anahtar Kelimeler

Kaynakça

  1. 1. McKusick VA. Mendelian Inheritance in Man and its online version, OMIM. Am J Hum Genet 2007; 80: 588-604.
  2. 2. Köse S, Aerts Kaya F, Kuşkonmaz B, Uçkan Çetinkaya D. Characterization of mesenchymal stem cells in mucolipidosis type II (I-cell disease). Turk J Biol 2019; 43: 171-178
  3. 3. Lin MH, Pitukcheewanont P. Mucolipidosis type II (I-cell disease) masquerading as rickets: two case reports and review of literature. J Pediatr Endocrinol Metab 2012; 25: 191-195
  4. 4. Saraff V, Nadar R, Shaw N. Neonatal bone disorders. Front Pediatr 2021; 9: 602552
  5. 5. Borg SA, Bishop NJ. New diagnostic modalities and emerging treatments for neonatal bone disease. Early Hum Dev 2018; 126: 32-37.

Ayrıntılar

Birincil Dil

İngilizce

Konular

Yenidoğan

Bölüm

Olgu Sunumu

Yazarlar

Yayımlanma Tarihi

26 Eylül 2025

Gönderilme Tarihi

12 Mart 2025

Kabul Tarihi

21 Temmuz 2025

Yayımlandığı Sayı

Yıl 2025 Cilt: 47 Sayı: 6

DOI

https://doi.org/10.20515/otd.1656358

IZ

https://izlik.org/JA54HU42ZB

Kaynak Göster

RIS / Bibtex
APA
Şimşek, H., Akçalı, M., Durukan Tosun, M., & Yıldırım, M. (2025). A Rare Case Report OF A Newborn That May Be Confused With Rickets Aad Other Metabolic Bone Dısorders: I-Cell Disease. Osmangazi Tıp Dergisi, 47(6), 1072-1074. https://doi.org/10.20515/otd.1656358
AMA
1.Şimşek H, Akçalı M, Durukan Tosun M, Yıldırım M. A Rare Case Report OF A Newborn That May Be Confused With Rickets Aad Other Metabolic Bone Dısorders: I-Cell Disease. Osmangazi Tıp Dergisi. 2025;47(6):1072-1074. doi:10.20515/otd.1656358
Chicago
Şimşek, Hüseyin, Mustafa Akçalı, Mehtap Durukan Tosun, ve Mustafa Yıldırım. 2025. “A Rare Case Report OF A Newborn That May Be Confused With Rickets Aad Other Metabolic Bone Dısorders: I-Cell Disease”. Osmangazi Tıp Dergisi 47 (6): 1072-74. https://doi.org/10.20515/otd.1656358.
EndNote
Şimşek H, Akçalı M, Durukan Tosun M, Yıldırım M (01 Eylül 2025) A Rare Case Report OF A Newborn That May Be Confused With Rickets Aad Other Metabolic Bone Dısorders: I-Cell Disease. Osmangazi Tıp Dergisi 47 6 1072–1074.
IEEE
[1]H. Şimşek, M. Akçalı, M. Durukan Tosun, ve M. Yıldırım, “A Rare Case Report OF A Newborn That May Be Confused With Rickets Aad Other Metabolic Bone Dısorders: I-Cell Disease”, Osmangazi Tıp Dergisi, c. 47, sy 6, ss. 1072–1074, Eyl. 2025, doi: 10.20515/otd.1656358.
ISNAD
Şimşek, Hüseyin - Akçalı, Mustafa - Durukan Tosun, Mehtap - Yıldırım, Mustafa. “A Rare Case Report OF A Newborn That May Be Confused With Rickets Aad Other Metabolic Bone Dısorders: I-Cell Disease”. Osmangazi Tıp Dergisi 47/6 (01 Eylül 2025): 1072-1074. https://doi.org/10.20515/otd.1656358.
JAMA
1.Şimşek H, Akçalı M, Durukan Tosun M, Yıldırım M. A Rare Case Report OF A Newborn That May Be Confused With Rickets Aad Other Metabolic Bone Dısorders: I-Cell Disease. Osmangazi Tıp Dergisi. 2025;47:1072–1074.
MLA
Şimşek, Hüseyin, vd. “A Rare Case Report OF A Newborn That May Be Confused With Rickets Aad Other Metabolic Bone Dısorders: I-Cell Disease”. Osmangazi Tıp Dergisi, c. 47, sy 6, Eylül 2025, ss. 1072-4, doi:10.20515/otd.1656358.
Vancouver
1.Hüseyin Şimşek, Mustafa Akçalı, Mehtap Durukan Tosun, Mustafa Yıldırım. A Rare Case Report OF A Newborn That May Be Confused With Rickets Aad Other Metabolic Bone Dısorders: I-Cell Disease. Osmangazi Tıp Dergisi. 01 Eylül 2025;47(6):1072-4. doi:10.20515/otd.1656358


13299        13308       13306       13305    13307  1330126978