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Case Report
 
Miller–Dieker syndrome with hydronephrosis
Keya Lahiri1, Fehmida Najmuddin2, Rajesh Rai1, Priya Patil Cholera3
1Pediatrics, Professor, Department of Pediatrics, D Y Patil Medical College, Hospital & Research Centre, Maharashtra, India.
2Pediatrics, Assistant Professor, Department of Pediatrics, D Y Patil Medical College, Hospital & Research Centre, Maharashtra, India.
3Ophthalmology, Assistant Professor, Department of Ophthalmology, D.Y. Patil Medical College, Hospital & Research Centre, Maharashtra, India.

doi:10.5348/ijcri-201598-CR-10559

Address correspondence to:
Dr. Fehmida Najmuddin
Department of paediatrics, D Y Patil Medical College
Hospital & Research Centre
Maharashtra
India
Phone: 0091-9920030533

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How to cite this article
Lahiri K, Najmuddin F, Rai R, Cholera PP. Miller–Dieker syndrome with hydronephrosis. Int J Case Rep Images 2015;6(10):610–613.


Abstract
Introduction: Miller–Dieker syndrome (MDS) is a rare genetic disorder which is characterized by lissencephaly, facial dysmorphism and congenital malformations involving-multiple organs.
Case Report: We, hereby describe a nine- month-old infant who presented to our tertiary care hospital with developmental delay, infantile spasm and bronchopneumonia. On examination, there was prominent forehead, bi-temporal hallowing, bilateral ptosis, upturned nares and low set ears. Other dysmorphic features were micrognathia, thickened upper lip, high arched palate, umbilical hernia and polydactyly was noted bilaterally in both the upper and lower limbs. The investigations, revealed Lissencephaly type 1 and left-sided hydronephrosis. The typical dysmorphic facies, neurological involvement and lissencephaly type 1 led to the diagnosis of Miller–Dieker syndrome.
Conclusion: Miller–Dieker syndrome involving the genitourinary system anomaly in the form of hydronephrosis with pelvi-ureteric junction obstruction, has not been yet described in literature.

Keywords: Miller-dieker syndrome, Lissencephaly, Hydronephrosis


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Author Contributions
Keya Lahiri – Substantial contribution to conception and design, Acquisition of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Fehmida Najmuddin – Substantial contribution to conception and design, Acquisition of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Rajesh Rai – Substantial contribution to conception and design, Acquisition of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published.
Priya Patil Cholera – Substantial contribution to conception and design, Acquisition of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
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The corresponding author is the guarantor of submission.
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Conflict of interest
Authors declare no conflict of interest.
Copyright
© 2015 Keya Lahiri et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.