Journal of Postgraduate Medicine
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Year : 2020  |  Volume : 66  |  Issue : 3  |  Page : 178  

Synovial chondromatosis of ankle in a child: A rare presentation

MD Al-Mendalawi 
 Department of Paediatrics, Al-Kindy College of Medicine, University of Baghdad, Baghdad, Iraq

Correspondence Address:
M D Al-Mendalawi
Department of Paediatrics, Al-Kindy College of Medicine, University of Baghdad, Baghdad
Iraq




How to cite this article:
Al-Mendalawi M D. Synovial chondromatosis of ankle in a child: A rare presentation.J Postgrad Med 2020;66:178-178


How to cite this URL:
Al-Mendalawi M D. Synovial chondromatosis of ankle in a child: A rare presentation. J Postgrad Med [serial online] 2020 [cited 2020 Sep 29 ];66:178-178
Available from: http://www.jpgmonline.com/text.asp?2020/66/3/178/289803


Full Text



Sathe et al.[1] have described an interesting case report of chondromatosis in an Indian child. As chondromatosis tends to often occur in older age group, the author regrettably did not attempt to disclose the rare development of chondromatosis in a child. I presume that the following point might be explanatory. It is explicit that hydroxyglutaric aciduria (HGAU) is a rare autosomal recessive inherited neurometabolic condition. It is featured by the accumulation of abnormal quantity of D-2-hydroxyglutaric acid (D-2-HGA) in the urine, blood, and cerebrospinal fluid. The clinical picture widely differs from asymptomatic to severe encephalopathy.[2] A distinct variety of an unusual combination of metabolic abnormalities of HGAU and skeletal chondromatosis has been reported. Choo et al.[3] described 4 patients who presented with a severe form of metaphyseal chondromatosis associated with HGAU. As D-2-HGA was excreted in high quantity in the urine of all the four studied patients, Choo et al.[3] recommended that urine organic acid screening needs to be undertaken in chondromatosis patients. Although the case in question had no neurological abnormalities as described by Sathe,[1] HGAU could not be totally excluded. This is because the disease might follow an asymptomatic course.[2],[3] As the consanguineous marriage is still a noticeable phenomenon in India on one hand,[4] and the significant correlation of consanguinity with different kinds of inborn errors of the metabolism, including HGAU on the other,[5] I assume that HGAU ought to be critically considered in the case in question. If that was documented by the diagnostic panel of estimating D-2-HGA in various body fluids and mutational analysis, the case in question could be surely considered a novel case report of HGAU-associated chondromatosis in the pediatric literature.

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Nil.

Conflicts of interest

There are no conflicts of interest.

References

1Sathe P, Agnihotri M, Vinchu C. Synovial chondromatosis of ankle in a child: A rare presentation. J Postgrad Med 2020;66:112-3.
2Kranendijk M, Struys EA, Salomons GS, Van der Knaap MS, Jakobs C. Progress in understanding 2-hydroxyglutaric acidurias. J Inherit Metab Dis 2012;35:571-87.
3Choo HJ, Cho TJ, Song J, Tiller GE, Lee SH, Park G, et al. Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients. Skeletal Radiol 2012;41:1479-87.
4Kumari N, Bittles AH, Saxena P. Has the long-predicted decline in consanguineous marriage in India occurred? J Biosoc Sci 2019:1-10. [in press].
5Afzal RM, Lund AM, Skovby F. The impact of consanguinity on the frequency of inborn errors of metabolism. Mol Genet Metab Rep 2018;15:6-10.

 
Tuesday, September 29, 2020
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