Galactosemia physical examination
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[2]
Overview
Galactosemia gives rise to varied signs on clinical examination.
Physical Examination
- Hepatosplenomegaly [1]
- Cataract[1]
- Vitreous hemorrhage[2]
- Ascites[3]
- Poor weight gain, lethargy, hypotonia[4]
- Bulging fontanelle due to pseudotumor cerebri[5]
- Chorea[6]
- Poor dentition, skin hyperpigmentation, joint deformities [7]
References
- ↑ 1.0 1.1 Bozkowa K, Zbieg-Sendecka E, Grodzka Z, Cabalska B (1979). "[Clinical and biochemical diagnosis of galactosemia among our cases]". Probl Med Wieku Rozwoj. 8: 63–9. PMID 263527.
- ↑ Laumonier E, Labalette P, Morisot C, Mouriaux F, Dobbelaere D, Rouland JF (2005). "[Vitreous hemorrhage in a neonate with galactosemia. A case report]". J Fr Ophtalmol. 28 (5): 490–6. doi:10.1016/s0181-5512(05)81085-x. PMID 15976715.
- ↑ Atik SU, Gürsoy S, Koçkar T, Önal H, Adal SE (2016). "Clinical, molecular, and genetic evaluation of galactosemia in Turkish children". Turk Pediatri Ars. 51 (4): 204–209. doi:10.5152/TurkPediatriArs.2016.3759. PMC 5242248. PMID 28123333.
- ↑ Coelho AI, Rubio-Gozalbo ME, Vicente JB, Rivera I (2017). "Sweet and sour: an update on classic galactosemia". J Inherit Metab Dis. 40 (3): 325–342. doi:10.1007/s10545-017-0029-3. PMC 5391384. PMID 28281081.
- ↑ Huttenlocher PR, Hillman RE, Hsia YE (1970). "Pseudotumor cerebri in galactosemia". J Pediatr. 76 (6): 902–5. doi:10.1016/s0022-3476(70)80373-0. PMID 5444582.
- ↑ Shah PA, Kuchhai FA (2009). "Galactosemia with chorea--an unusual presentation". Indian J Pediatr. 76 (1): 97–8. doi:10.1007/s12098-009-0037-x. PMID 19391011.
- ↑ Gorial FI, Mohammed MJ (2019). "Unusual Presentation of Galactosemia in a Child: Musculoskeletal Manifestations". Mediterr J Rheumatol. 30 (2): 123–124. doi:10.31138/mjr.30.2.123. PMC 7045964 Check
|pmc=value (help). PMID 32185352 Check|pmid=value (help).