Bibliographic Details
| Title: |
Walker-Warburg syndrome: A case report of congenital muscular dystrophy with hydrocephalus |
| Authors: |
Fawzya Aref, MD, Amin Shaaban, MD, Abouelhassan Ahmed, MD, Maram Gubari, MBBS, Jood Hassan, MBBS, Mussaed Alharbi, MBBS, Kholod Alsubhi, MBBS, Kareem Alsalhi, MBBS, Shama Albalawi, MBBS, Mohamad Ali, MBBS, Hiba Ali, MBBS, Najla Filfilan, MBBS, Elaf Shmailah, MBBS, Attallah Ahmed |
| Source: |
Radiology Case Reports, Vol 19, Iss 11, Pp 5063-5065 (2024) |
| Publisher Information: |
Elsevier, 2024. |
| Publication Year: |
2024 |
| Collection: |
LCC:Medical physics. Medical radiology. Nuclear medicine |
| Subject Terms: |
Cobblestone lissencephaly, Brain malformations, Eye abnormalities, Congenital muscular dystrophy, Walker-Warburg syndrome, Tmem5 gene, Medical physics. Medical radiology. Nuclear medicine, R895-920 |
| More Details: |
Walker-Warburg Syndrome is a genetically heterogeneous disease with autosomal recessive inheritance characterized by brain and eye deformities, profound mental retardation, congenital muscular dystrophy, and early death. This case study demonstrates a mutation on chromosome 12q14 in the TMEM5 gene (RXYLT1; 605862), which encodes a transmembrane protein with glycosyltransferase function. We present a case of a full-term male baby delivered by Cesarean section due to macrocephaly. At birth, the newborn had hypotonia and respiratory distress, requiring mechanical ventilation. On examination the patient was found to have macrocephaly, generalized hypotonia, hyporeflexia, and retinal degeneration. Genetic testing revealed a homozygous variant in the RXYLT1 gene, consistent with the diagnosis of autosomal recessive muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A10. The patient underwent a ventriculoperitoneal shunt and received supportive management. WWS is a fatal disease, and most affected children do not survive beyond the age of 3. Prenatal screening, ultrasonography and magnetic resonance imaging can aid in the detection and confirmation of abnormal brain development in WWS cases. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
1930-0433 |
| Relation: |
http://www.sciencedirect.com/science/article/pii/S1930043324007362; https://doaj.org/toc/1930-0433 |
| DOI: |
10.1016/j.radcr.2024.07.149 |
| Access URL: |
https://doaj.org/article/c1f92fb874984fc4baeeffd55e9ae17e |
| Accession Number: |
edsdoj.1f92fb874984fc4baeeffd55e9ae17e |
| Database: |
Directory of Open Access Journals |
