# March 2025

- Link: https://isnr.in/march-2025/
- Published: 2025-03-06T01:17:20+05:30
- Author: ISNR

## March 2025

## CASE HISTORY

35 years old lady with abnormal antenatal ultrasound came for fetal MRI at 33 weeks
of gestation.

## CASE CONTRIBUTED BY

Dr. Nishigandha Salunke, Radiology, Bai Jerbai Wadia Hospital For Children , Mumbai

Dr. Foram Gala, Radiology, Bai Jerbai Wadia Hospital For Children , Mumbai

**Images A to D**: Fetal T2 Weighted images showing multiple porencephalic cysts
with enlarged lateral ventricles showing irregular margins, old infarcts /hemosiderin
staining in cerebral white matter and gliosis in caudothalamic groove.

**Images E to H**: Post-natal scans confirm above findings. Susceptibility Weighted
Images ( G and H) show multiple areas of hemosiderin staining in deep cerebral white
matter and choroid plexus and ependymal lining of both lateral ventricles.

Images A-D: Fetal MRI at 33 weeks of gestation and images E-H: Postnatal MRI scan
at day 5 of life

![Case of the month - March 2025](https://isnr.in/wp-content/uploads/2025/03/case-
of-the-month-march-2025-1024x568.jpg)

Images A-D: Fetal MRI at 33 weeks of gestation and images E-H: Postnatal MRI scan
at day 5 of life

![](https://isnr.in/wp-content/uploads/2025/03/COM_MRI_Findings_Mar_25-1024x584.
jpg)

## COL4A1 Associated Multiple Chronic Intraparenchymal Hemorrhages With Porencephalic Cysts

 * vMutation in COL4A1 gene leads to group of conditions known as COL4A1 related
   disorders. COL4A1 gene encodes for type IV collagen and is expressed in brain,
   eyes, muscles and kidneys [1].
 * vOur case shows porencephaly due to antenatal intracerebral haemorrhages which
   do not follow vascular territories. Porencephaly is characterised by fluid filled
   cavities within cerebral parenchyma due to antenatal or perinatal intraparenchymal
   haemorrhages. Porencephaly can also be associated with periventricular leukoencephalopathy,
   lacunar infarct, microbleeds and calcifications[2].
 * vThe takeaway is, consider COL4A1 gene mutation when encountering cerebral infarction
   or intraparenchymal haemorrhages (which do not follow vascular territory ), ventriculomegaly
   or focal parenchymal defects (porencephalic cysts) on prenatal imaging.

## Differential Diagnosis

 1. COL4A2 gene mutation: similar imaging appearance, only genetics helps to differentiate.
 2. SAMHD1 gene mutation: characterised by cerebral vasculopathy- stenosis/ aneurysms
    of vessels , chronic   ischemic changes, Moya Moya pattern, infarcts and hemorrhages.
    
    MRA in our case was normal.

**References :**

 1. England, E.C., Cornejo, P., Neilson, D.E. _et al._ Fetal brain small vessel disease
    1 caused by a novel mutation in the COL4A1 gene. _Pediatr Radiol_ **51**, 480–484(
    2021). [https://doi.org/10.1007/s00247-020-04847-2](https://doi.org/10.1007/s00247-020-04847-2)
 2. Plaisier E, Ronco P. COL4A1-Related Disorders. 2009 Jun 25 [Updated 2016 Jul 7].
    In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle(
    WA): University of Washington, Seattle; 1993-2025. Available from: https://www.
    ncbi.nlm.nih.gov/books/NBK7046.