Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis. Brain. 2003 Apr. 126 (Pt 4):974-87. [Medline]. Karimzadeh P, Naderi S, Modarresi F, Dastsooz H, Nemati H, Farokhashtiani T, et al. [emedicine.com]

Imad Dweikat Metabolic Unit, Pediatric Department, Makassed Hospital, Jerusalem Israel Source of Support: None, Conflict of Interest: None DOI: 10.4103/0019-5154.77567 Abstract A 7-month old girl with GM1 gangliosidosis type 1 manifested with diffuse ecchymosis [e-ijd.org]

[…] in infancy Infantile death Lethal in infancy [ more ] 0001522 Decreased beta-galactosidase activity 0008166 Depressed nasal ridge Flat nose Recessed nasal ridge [ more ] 0000457 Dilated cardiomyopathy Stretched and thinned heart muscle 0001644 Frontal [rarediseases.info.nih.gov]

Depressed nasal bridge and prominent philtrum. Macroglossia and enlarged alveolar process. Wide ribs. Hypoplastic ilia and pelvic trabeculation. Short and stubby hands with bullet-shaped phalanges. [accessanesthesiology.mhmedical.com]

Infants have coarse thick hair, a depressed nasal bridge, gingival hypertrophy, large low-set ears and hair on the forehead. [themedicalbiochemistrypage.org]

Coarse facies with macrocephaly, frontal bossing, full cheeks, and mandibular prognathism. Puffy eyelids, cherry-red macular spots in 50% of patients and occasional corneal opacity. Depressed nasal bridge and prominent philtrum. [accessanesthesiology.mhmedical.com]

GM1 gangliosidosis associated with neonatal-onset of diffuse ecchymoses and mongolian spots. Indian J Dermatol 2011;56:98-100 How to cite this URL: Dweikat I, Libdeh BA, Murrar H, Khalil S, Maraqa N. [e-ijd.org]

Gm1 gangliosidosis associated with neonatal-onset of diffuse ecchymoses and mongolian spots. Indian J Dermatol. 2011 Jan. 56(1):98-100. [Medline]. [Full Text]. Takenouchi T, Kosaki R, Nakabayashi K, Hata K, Takahashi T, Kosaki K. [emedicine.com]