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All Journal Paediatrica Indonesiana
Dara Ninggar Santoso
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Health Professions Medicine & Pharmacology

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The collagen type IV alpha 1 chain (COL4A1) mutation as a rare cause of cerebral small vessel disease in adolescent: a case report from Indonesia Achmad Rafli; Indira Rahmawati; Dara Ninggar Santoso; Irawan Mangunatmadja; Setyo Handryastuti; Amanda Soebadi; Fitri Primacakti; Cut Nurul Hafifah; Rakhmad Hidayat; Mohamad Yanuar Amal
Paediatrica Indonesiana Vol. 66 No. 5 (2026): September 2026
Publisher : Indonesian Pediatric Society

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Abstract

Cerebral Small Vessel Disease (CSVD) is defined as an abnormality of small blood vessels in the brain, including arterioles, venules, or capillaries.1,2 Symptoms of CSVD can be varied, ranging from stroke, cognitive impairment, gait and balance difficulties.3 CSVD can be caused by several factors, such as genetic, environmental, and their combination.4 CSVD is commonly found in adults, and rarely occurs in children or adolescents.1 Genetic mutation is known as the cause of CSVD. Several single-gene disorders causing CSVD are being identified, with several monogenic genes known to contribute, including NOTCH3, HTRA1, COL4A1, COL4A2, TREX1, APP, CTSA, FOXC1, FOXF2, ADA2, GLA, MTHFR, and HBB.1,4–6 One of the gene mutations found in this case was the COL4A1 gene. COL4A1 gene encodes the collagen type IV alpha-1 chain, which forms type IV collagen together with the COL4A2 gene, located on chromosome 13q34. Together, these genes support the basement membrane protein in blood vessels and other organs. COL4A1 gene is highly expressed in small perforating cerebral arteries. COL4A1 mutations in the brain were recognized as a monogenic cause of CSVD in children.7
Co-Authors Amanda Soebadi Cut Nurul Hafifah Fitri Primacakti, Fitri Indira Rahmawati Irawan Mangunatmadja Mohamad Yanuar Amal Rafli, Achmad Rakhmad Hidayat Setyo Handryastuti