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Case Report Open Access


Menkes disease - A rare case report

Preenumol Thomas, Meenu Mathew, Roshni P R.

Abstract
Menkes disease (MD) is a rare, lethal multisystemic disorder of copper metabolism characterized by cerebral and cerebellar neurodegeneration, fair skin with peculiar “kinky hair” and connective tissue abnormalities. It is an x-linked recessive disorder leading to copper deficiency which usually occurs in newborn babies which can even lead to death. The main characteristic features include low serum copper, developmental delay, osteopenia, tortuous vessels on imaging, hair changes, axial hypotonia, ceruloplasmin, elevated lactate levels, and recurrent respiratory tract infection. Here, we report the case of a 10-month-old male child presented with soft skin with wrinkling of skin, difficulty in holding neck, graying of hair, seizure, and respiratory tract infection. Thereby, he was diagnosed to have MD and was treated with copper supplements. However, the patient was expired at an age of 2 years. There are reports suggest that a critical period of 2 months of neonatal life within which the treatment showed a beneficial outcome with up to 50% successful cure rates. In India, very few cases are reported about this disease, which increases the relevance of this report. Further studies regarding this disease are necessary for establishing better treatment modalities. Early diagnosis and medical management of MD is crucial to improve the survival rate of patients.

Key words: Ceruloplasmin; Hypotonia; Kinky Hair; Menkes Disease; Osteopenia


 
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Pubmed Style

Thomas P, Mathew M, R RP. Menkes disease - A rare case report. Natl J Physiol Pharm Pharmacol. 2017; 7(12): 1447-1448. doi:10.5455/njppp.2018.8.0725221072017


Web Style

Thomas P, Mathew M, R RP. Menkes disease - A rare case report. http://www.njppp.com/?mno=272378 [Access: December 18, 2017]. doi:10.5455/njppp.2018.8.0725221072017


AMA (American Medical Association) Style

Thomas P, Mathew M, R RP. Menkes disease - A rare case report. Natl J Physiol Pharm Pharmacol. 2017; 7(12): 1447-1448. doi:10.5455/njppp.2018.8.0725221072017



Vancouver/ICMJE Style

Thomas P, Mathew M, R RP. Menkes disease - A rare case report. Natl J Physiol Pharm Pharmacol. (2017), [cited December 18, 2017]; 7(12): 1447-1448. doi:10.5455/njppp.2018.8.0725221072017



Harvard Style

Thomas, P., Mathew, M. & R, R. P. (2017) Menkes disease - A rare case report. Natl J Physiol Pharm Pharmacol, 7 (12), 1447-1448. doi:10.5455/njppp.2018.8.0725221072017



Turabian Style

Thomas, Preenumol, Meenu Mathew, and Roshni P R. 2017. Menkes disease - A rare case report. National Journal of Physiology, Pharmacy and Pharmacology, 7 (12), 1447-1448. doi:10.5455/njppp.2018.8.0725221072017



Chicago Style

Thomas, Preenumol, Meenu Mathew, and Roshni P R. "Menkes disease - A rare case report." National Journal of Physiology, Pharmacy and Pharmacology 7 (2017), 1447-1448. doi:10.5455/njppp.2018.8.0725221072017



MLA (The Modern Language Association) Style

Thomas, Preenumol, Meenu Mathew, and Roshni P R. "Menkes disease - A rare case report." National Journal of Physiology, Pharmacy and Pharmacology 7.12 (2017), 1447-1448. Print. doi:10.5455/njppp.2018.8.0725221072017



APA (American Psychological Association) Style

Thomas, P., Mathew, M. & R, R. P. (2017) Menkes disease - A rare case report. National Journal of Physiology, Pharmacy and Pharmacology, 7 (12), 1447-1448. doi:10.5455/njppp.2018.8.0725221072017



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