Neuropathic Cystinosis: A Rare Case Report
Cystinosis is a lysosomal storage disease characterized by an intracellular accumulation of cystine in different organs and tissues, leading to potentially severe organ dysfunction. The neurological manifestations in cystinosis are generally late and non-dominant. In this report, we described a cas...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
University of Baghdad/ Al-Kindy College of Medicine
2025-04-01
|
| Series: | مجله كليه طب الكندي |
| Subjects: | |
| Online Access: | https://jkmc.uobaghdad.edu.iq/index.php/MEDICAL/article/view/1248 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849738197956820992 |
|---|---|
| author | Ahmed Muthana Rabab Farhan Thejeal Ikhlas Ali Ahmed |
| author_facet | Ahmed Muthana Rabab Farhan Thejeal Ikhlas Ali Ahmed |
| author_sort | Ahmed Muthana |
| collection | DOAJ |
| description |
Cystinosis is a lysosomal storage disease characterized by an intracellular accumulation of cystine in different organs and tissues, leading to potentially severe organ dysfunction. The neurological manifestations in cystinosis are generally late and non-dominant. In this report, we described a case of infantile cystinosis with dominant neurological manifestations at the presentation. A three-and-a-half-year-old male baby was presented to the pediatric teaching hospital with a history of poor growth and delayed milestones. The condition started at the age of six months, with abnormal growth and development. Family history was positive for mental retardation. The child had a few dysmorphic features such as frontal bossing and wrist widening. The renal function tests were abnormal. Brain magnetic resonance image (MRI) revealed changes in bilateral frontal primitive gyral pattern. Bone marrow aspiration and liver biopsy were both in favor of cystinosis. Slit-lamp examination of the eyes demonstrated crystalline crystals and keratinopathy. A genetic study identified a mutation in the CTNS gene, which was consistent with the autosomal recessive nephropathic cystinosis. In conclusion, neurological manifestations could be one of the earlier presentations of infantile cystinosis.
|
| format | Article |
| id | doaj-art-d7044a326f75465ca06d583b1b769e11 |
| institution | DOAJ |
| issn | 1810-9543 2521-4365 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | University of Baghdad/ Al-Kindy College of Medicine |
| record_format | Article |
| series | مجله كليه طب الكندي |
| spelling | doaj-art-d7044a326f75465ca06d583b1b769e112025-08-20T03:06:41ZengUniversity of Baghdad/ Al-Kindy College of Medicineمجله كليه طب الكندي1810-95432521-43652025-04-0121110.47723/1nq280701174Neuropathic Cystinosis: A Rare Case ReportAhmed Muthana0https://orcid.org/0009-0009-9877-4189Rabab Farhan Thejeal1Ikhlas Ali Ahmed2College of Medicine, University of Baghdad, Baghdad, IraqDepartment of Pediatrics, College of Medicine, University of Baghdad, Baghdad, Iraq Central Child Teaching Hospital, Baghdad, Iraq Cystinosis is a lysosomal storage disease characterized by an intracellular accumulation of cystine in different organs and tissues, leading to potentially severe organ dysfunction. The neurological manifestations in cystinosis are generally late and non-dominant. In this report, we described a case of infantile cystinosis with dominant neurological manifestations at the presentation. A three-and-a-half-year-old male baby was presented to the pediatric teaching hospital with a history of poor growth and delayed milestones. The condition started at the age of six months, with abnormal growth and development. Family history was positive for mental retardation. The child had a few dysmorphic features such as frontal bossing and wrist widening. The renal function tests were abnormal. Brain magnetic resonance image (MRI) revealed changes in bilateral frontal primitive gyral pattern. Bone marrow aspiration and liver biopsy were both in favor of cystinosis. Slit-lamp examination of the eyes demonstrated crystalline crystals and keratinopathy. A genetic study identified a mutation in the CTNS gene, which was consistent with the autosomal recessive nephropathic cystinosis. In conclusion, neurological manifestations could be one of the earlier presentations of infantile cystinosis. https://jkmc.uobaghdad.edu.iq/index.php/MEDICAL/article/view/1248CystinosisNephropathicCentral nervous system |
| spellingShingle | Ahmed Muthana Rabab Farhan Thejeal Ikhlas Ali Ahmed Neuropathic Cystinosis: A Rare Case Report مجله كليه طب الكندي Cystinosis Nephropathic Central nervous system |
| title | Neuropathic Cystinosis: A Rare Case Report |
| title_full | Neuropathic Cystinosis: A Rare Case Report |
| title_fullStr | Neuropathic Cystinosis: A Rare Case Report |
| title_full_unstemmed | Neuropathic Cystinosis: A Rare Case Report |
| title_short | Neuropathic Cystinosis: A Rare Case Report |
| title_sort | neuropathic cystinosis a rare case report |
| topic | Cystinosis Nephropathic Central nervous system |
| url | https://jkmc.uobaghdad.edu.iq/index.php/MEDICAL/article/view/1248 |
| work_keys_str_mv | AT ahmedmuthana neuropathiccystinosisararecasereport AT rababfarhanthejeal neuropathiccystinosisararecasereport AT ikhlasaliahmed neuropathiccystinosisararecasereport |