Case Reports
doi: 10.1016/s0022-3476(78)81218-9.
Neonatal presentation of I-cell disease
- PMID: 722439
- DOI: 10.1016/s0022-3476(78)81218-9
Item in Clipboard
Case Reports
Neonatal presentation of I-cell disease
J Pediatr.
1978 Dec.
Abstract
Two patients are described in whom the diagnosis of I-cell disease was established in early infancy. These patients lacked many of the clinical and radiographic features described in other children with this disorder. Differences between the neonatal and early childhood presentation of ICD are discussed.
Similar articles
-
Neonatal mucolipidosis II (I-cell disease): clinical and radiologic features in three cases.AJR Am J Roentgenol. 1977 Jul;129(1):37-43. doi: 10.2214/ajr.129.1.37. AJR Am J Roentgenol. 1977. PMID: 409140
-
Neonatal mucolipidosis II (I-cell disease): clinical, radiological and biochemical studies in a case.Helv Paediatr Acta. 1980 Mar;35(1):85-95. Helv Paediatr Acta. 1980. PMID: 7410106
-
[I-cell disease (mucolipidosis II or sialidosis].Minerva Pediatr. 1978 Jun 15;30(11):865-84. Minerva Pediatr. 1978. PMID: 353485 Review. Italian. No abstract available.
-
Neonatal mucolipidosis II (I-cell disease) with dysharmonic epiphyseal ossification and butterfly vertebral body.J Perinatol. 1996 Sep-Oct;16(5):400-2. J Perinatol. 1996. PMID: 8915942 Review.
-
I-cell disease. A case report and review of the literature.Turk J Pediatr. 1994 Apr-Jun;36(2):145-52. Turk J Pediatr. 1994. PMID: 8016916
Cited by
-
Excessive activity of cathepsin K is associated with cartilage defects in a zebrafish model of mucolipidosis II.Dis Model Mech. 2012 Mar;5(2):177-90. doi: 10.1242/dmm.008219. Epub 2011 Nov 1. Dis Model Mech. 2012. PMID: 22046029 Free PMC article.
-
Craniosynostosis and hydrocephalus in I-cell disease (mucolipidosis II).Childs Nerv Syst. 1987;3(1):55-7. doi: 10.1007/BF00707197. Childs Nerv Syst. 1987. PMID: 3594472
-
Hip Morphology in Mucolipidosis Type II.J Clin Med. 2020 Mar 8;9(3):728. doi: 10.3390/jcm9030728. J Clin Med. 2020. PMID: 32182687 Free PMC article.
-
Difficult intubation management in a child with I-cell disease.Saudi J Anaesth. 2010 May;4(2):105-7. doi: 10.4103/1658-354X.65121. Saudi J Anaesth. 2010. PMID: 20927271 Free PMC article.
-
Mucolipidosis II: correlation between radiological features and histopathology of the bones.Pediatr Radiol. 1989;19(6-7):406-13. doi: 10.1007/BF02387638. Pediatr Radiol. 1989. PMID: 2771479
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Research Materials
