E-ISSN 1858-8360 | ISSN 0256-4408
 

Image 


Crystalline keratopathy in nephropathic cystinosis

priyanka ., Girish Chandra Bhatt, Amber Kumar, Brijesh Takkar.


Abstract
A 3-year-old male child presented with complaints of poor weight gain, delayed motor milestones since 1 year of age and features suggestive of rickets (wrist widening, bowing of legs and Harrison’s sulcus). He was third born of a third degree consanguineous marriage, had polyuria, with investigations revealing proximal renal tubular acidosis and generalised aminoaciduria (Fanconi syndrome). Eye evaluation revealed both the cornea to be studded with yellow-golden crystals throughout their surface. The crystals appeared to occupy the epithelial and superficial stromal layers of the cornea, and were distributed in a generalised fashion (Figure 1). Fundus evaluation of both the eyes too showed crystalline deposits within the retina (not cooperative for fundus imaging). Genetic studies confirmed the diagnosis of cystinosis with pathogenic CTNS gene mutations on intron 9 and exon 11. Younger sibling aged 2 years had a similar clinical presentation, and his genetic studies also determined the same pathogenic CTNS gene mutations. Cystinosis is a rare autosomal recessive metabolic disorder characterised by accumulation of cystine in lysosomes. Kidneys and eyes are, especially, vulnerable though eventually the disease impacts all the organs including liver, muscles, white blood cells and central nervous system. CTNS, located on the short arm of the chromosome 17 (p13), is the responsible gene. It encodes the lysosomal cystine carrier cystinosin [1,2]. There are three clinical forms of cystinosis-infantile (nephropathic) cystinosis; late-onset cystinosis and benign cystinosis. Infantile cystinosis is the most severe and the most common type of cystinosis, but may be missed initially as all

Key words: crystalline keratopathy, cysteamine, pediatric corneal diseases, cystinosis


 
ARTICLE TOOLS
Abstract
PDF Fulltext
How to cite this articleHow to cite this article
Citation Tools
Related Records
 Articles by priyanka .
Articles by Girish Chandra Bhatt
Articles by Amber Kumar
Articles by Brijesh Takkar
on Google
on Google Scholar


How to Cite this Article
Pubmed Style

. p, Bhatt GC, Kumar A, Takkar B, . Crystalline keratopathy in nephropathic cystinosis. Sudan J Paed. 2019; 19(2): 169-170. doi:10.24911/SJP.106-1550747830


Web Style

. p, Bhatt GC, Kumar A, Takkar B, . Crystalline keratopathy in nephropathic cystinosis. https://sudanjp.com//?mno=32790 [Access: February 08, 2024]. doi:10.24911/SJP.106-1550747830


AMA (American Medical Association) Style

. p, Bhatt GC, Kumar A, Takkar B, . Crystalline keratopathy in nephropathic cystinosis. Sudan J Paed. 2019; 19(2): 169-170. doi:10.24911/SJP.106-1550747830



Vancouver/ICMJE Style

. p, Bhatt GC, Kumar A, Takkar B, . Crystalline keratopathy in nephropathic cystinosis. Sudan J Paed. (2019), [cited February 08, 2024]; 19(2): 169-170. doi:10.24911/SJP.106-1550747830



Harvard Style

., p., Bhatt, G. C., Kumar, A., Takkar, B. & (2019) Crystalline keratopathy in nephropathic cystinosis. Sudan J Paed, 19 (2), 169-170. doi:10.24911/SJP.106-1550747830



Turabian Style

., priyanka, Girish Chandra Bhatt, Amber Kumar, Brijesh Takkar, and . 2019. Crystalline keratopathy in nephropathic cystinosis. Sudanese Journal of Paediatrics, 19 (2), 169-170. doi:10.24911/SJP.106-1550747830



Chicago Style

., priyanka, Girish Chandra Bhatt, Amber Kumar, Brijesh Takkar, and . "Crystalline keratopathy in nephropathic cystinosis." Sudanese Journal of Paediatrics 19 (2019), 169-170. doi:10.24911/SJP.106-1550747830



MLA (The Modern Language Association) Style

., priyanka, Girish Chandra Bhatt, Amber Kumar, Brijesh Takkar, and . "Crystalline keratopathy in nephropathic cystinosis." Sudanese Journal of Paediatrics 19.2 (2019), 169-170. Print. doi:10.24911/SJP.106-1550747830



APA (American Psychological Association) Style

., p., Bhatt, G. C., Kumar, A., Takkar, B. & (2019) Crystalline keratopathy in nephropathic cystinosis. Sudanese Journal of Paediatrics, 19 (2), 169-170. doi:10.24911/SJP.106-1550747830





Most Viewed Articles
Most Accessed Articles

  • Rheumatic heart disease in North Darfur: an alarmingly high burden and control initiative
    Nagwa Salih, Ishag Eisa, Daresalam Ishag, Intisar Ibrahim, Sulafa Ali
    Sudan J Paed. 2018; 18(1): 24-27
    » Abstract » doi: 10.24911/SJP.2018.1.4

  • Feeding growth restricted premature neonates: a challenging perspective
    Siba Prosad Paul, Emily Natasha Kirkham, Katherine Amy Hawton, Paul Anthony Mannix
    Sudan J Paed. 2018; 18(2): 5-14
    » Abstract » doi: 10.24911/SJP.106-1519511375

  • Congenital brain malformations in Sudanese children: an outpatient-based study
    Inaam Noureldyme Mohammed, Soad Abdalaziz Suliman, Maha A Elseed, Ahlam Abdalrhman Hamed, Mohamed Osman Babiker, Shaimaa Osman Taha
    Sudan J Paed. 2018; 18(1): 48-56
    » Abstract » doi: 10.24911/SJP.2018.1.7

  • Evaluation of Science. [eng]
    Adnan Mahmmood Usmani; Sultan Ayoub Meo
    Sudan J Paed. 2011; 11(1): 6-7
    » Abstract

  • Medical education and services in an extreme environment
    Mustafa Abdalla M. Salih, Mohammed Osman Swar
    Sudan J Paed. 2018; 18(1): 2-5
    » Abstract » doi: 10.24911/SJP.2018.1.1

  • Most Downloaded
    Top Downloaded Articles

  • The role of micronutrients in thyroid dysfunction
    Amir Babiker, Afnan Alawi, Mohsen Al Atawi, Ibrahim Al Alwan
    Sudan J Paed. 2020; 20(1): 13-19
    » Abstract » doi: 10.24911/SJP.106-1587138942

  • Why mothers are not exclusively breast feeding their babies till 6 months of age? Knowledge and practices data from two large cities of the Kingdom of Saudi Arabia
    Hafsa Raheel, Shabana Tharkar
    Sudan J Paed. 2018; 18(1): 28-38
    » Abstract » doi: 10.24911/SJP.2018.1.5

  • Relactation in lactation failure and low milk supply
    Anita Mehta, Arvind Kumar Rathi, Komal Prasad Kushwaha, Abhishek Singh
    Sudan J Paed. 2018; 18(1): 39-47
    » Abstract » doi: 10.24911/SJP.2018.1.6

  • Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review
    Majid Alfadhel, Amir Babiker
    Sudan J Paed. 2018; 18(1): 10-23
    » Abstract » doi: 10.24911/SJP.2018.1.3

  • Neonatal polycythaemia
    Bashir Abdrhman Bashir, Suhair Abdrahim Othman
    Sudan J Paed. 2019; 19(2): 81-83
    » Abstract » doi: 10.24911/SJP.106-1566075225

  • Most Cited Articles
    Most Cited Articles

  • Anti-diabetic medications: How to make a choice?
    Amir Babiker, Mohammed Al Dubayee
    Sudan J Paed. 2017; 17(2): 11-20
    » Abstract » doi: 10.24911/SJP.2017.2.12
    Cited : 8 times [Click to see citing articles]

  • Commitment to the wellbeing of children worldwide. [eng]
    Mustafa Abdalla M Salih; Satti Abdelrahim Satti
    Sudan J Paed. 2011; 11(2): 4-5
    » Abstract
    Cited : 4 times [Click to see citing articles]

  • Pattern of malaria in hospitalized children in Khartoum state
    Hasan Awadalla Hashim, Eltigani Mohamed Ahmed Ali
    Sudan J Paed. 2017; 17(2): 35-41
    » Abstract » doi: 10.24911/SJP.2017.2.4
    Cited : 4 times [Click to see citing articles]

  • The role of micronutrients in thyroid dysfunction
    Amir Babiker, Afnan Alawi, Mohsen Al Atawi, Ibrahim Al Alwan
    Sudan J Paed. 2020; 20(1): 13-19
    » Abstract » doi: 10.24911/SJP.106-1587138942
    Cited : 4 times [Click to see citing articles]

  • Broad beans ( Vicia faba ) and the potential to protect from COVID-19 coronavirus infection
    Mutasim I. Khalil, Mustafa A. Salih, Ali A. Mustafa
    Sudan J Paed. 2020; 20(1): 10-12
    » Abstract » doi: 10.24911/SJP.1061585398078
    Cited : 4 times [Click to see citing articles]