EURORAD ESR

Case 15381

Oro facial digital syndrome type 1 with heterotopia, polymicrogyria and corpus callosum agenesis- a rare case report

Author(s)
Dr Arjumand jahan 1, Dr Mohd Danish khan2, Dr Piyush Pandey3, Dr. Neera kohli4, Dr. Anit parihar5, Dr. Harsh singh6

1- MD (Junior resident, Department of Radiodiagnosis, KGMU, Lucknow)
2-BSc BHMS DNHE PGDHHM (General physician)
3-MD (Senior resident, Department of Radiodiagnosis, KGMU, Lucknow)
4-MD, FICRI, FIMSA (Head of the department of Radiodiagnosis, KGMU, Lucknow)
5-MD, PDCC Neuroradiology (Additional professor, Department of Radiodiagnosis, KGMU, Lucknow)
6- MD ( Senior resident, Department of Radiodiagnosis, KGMU, Lucknow)

Department of radiodiagnosis, GM associates hospital, King George's Medical University; chowk 226003 Lucknow; Email:jahan.arjumand@gmail.com.
 
Patient
female, 28 year(s)
 
 
  • Figure 1
    General examination of the patient (Oral)

    Oral examination showing lobulated tongue and abnormal dentition.

     
    Area of Interest: Ear / Nose / Throat; Imaging Technique: Experimental; Procedure: Observer performance; Special Focus: Congenital;
     
     
  • Figure 2
    General examination of the patient (Hands )

    Brachydactyly

     
    Area of Interest: Musculoskeletal system; Imaging Technique: Experimental; Procedure: Observer performance; Special Focus: Congenital;
     
     
  • Figure 3
    General examination of the patient (Feet)

    Brachydactyly

     
    Area of Interest: Musculoskeletal system; Imaging Technique: Experimental; Procedure: Observer performance; Special Focus: Congenital;
     
     
  • Figure 4
    Sonography of abdomen (Kidney)

    Sonography showing multiple cysts of varying sizes in kidneys- polycystic kidneys.

     
    Area of Interest: Kidney; Imaging Technique: Ultrasound; Procedure: Computer Applications-General; Special Focus: Cysts;
     
     
  • Figure 5
    Sonography of abdomen (Pancreas)

    Sonography showing few tiny cysts in pancreatic parenchyma.

     
    Area of Interest: Pancreas; Imaging Technique: Ultrasound; Procedure: Computer Applications-General; Special Focus: Cysts;
     
     
  • Figure 6
    Magnetic resonance cholangiopancreatography

    Thick slab MRCP images showing beaded dilatation of intrahepatic biliary radicles and bilateral polycystic kidneys.

     
    Area of Interest: Biliary Tract / Gallbladder; Kidney; Imaging Technique: MR; Procedure: Imaging sequences; Special Focus: Dilatation;
     
     
  • Figure 7
    MRI Brain

    T2 FRFSE axial section of brain showing bilateral frontal lobe atrophy, grey matter heterotopia in right frontal lobe, polymicrogyria in bilateral frontal & parietal lobe with parallel and wide apart body of lateral...

     
    Area of Interest: Head and neck; Imaging Technique: MR; Procedure: Computer Applications-General; Special Focus: Congenital;
     
     
  • Figure 8
    MRI Brain

    T2 FRFSE sagittal section of brain showing complete agenesis of corpus callosum and age inappropriate atrophy of brain.

     
    Area of Interest: Head and neck; Imaging Technique: MR; Procedure: Computer Applications-General; Special Focus: Congenital;
     
     
Oral examination showing lobulated tongue and abnormal dentition.
 
Brachydactyly
 
Brachydactyly
 
Sonography showing multiple cysts of varying sizes in kidneys- polycystic kidneys.
 
Sonography showing few tiny cysts in pancreatic parenchyma.
 
Thick slab MRCP images showing beaded dilatation of intrahepatic biliary radicles and bilateral polycystic kidneys.
 
T2 FRFSE axial section of brain showing bilateral frontal lobe atrophy, grey matter heterotopia in right frontal lobe, polymicrogyria in bilateral frontal & parietal lobe with parallel and wide apart body of lateral ventricles.
 
T2 FRFSE sagittal section of brain showing complete agenesis of corpus callosum and age inappropriate atrophy of brain.
 
 
 
Home Search Sections Teaching Cases History FAQ Case Archives Contact Login Disclaimer Imprint Switch to MOBILE version
View desktop version