070605 TRISOMY 18 WITH OMPHALOCELE AND BOCHDALEK HERNIA

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070605 TRISOMY 18 WITH OMPHALOCELE AND BOCHDALEK HERNIA

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Authored By: pedrad CSH, Radiologist, Chung Shan Medical University Hospital, Taiwan.

Patient: 1 day old male

History:

Chief complain:
Generalized cyanosis and poor activity since birth

Birth history:
Full term gestational age: 41+5 weeks, G2P2
Caesarean section due to suspicious gastrointestinal tract anomaly
Birth weight:2402gm, Apgar score: [1'](2)-->[5'](5)

Echocardiography:
A-V canal ventricular septum defect, patent ductus arteriosus,
bilateral ventricular hypertrophy, right ventricular dilatation.

Images:


Fig. 1: Photo


Fig. 2: Photo


Fig. 3: Photo


Fig. 4: Photo


Fig. 5: Photo


Fig. 6: Photo


Fig. 7: Chest X-ray (after omphalocele surgical repair) AP view


Fig. 8: Chest CT with intravenous contrast and multiplanar reconstruction, oblique coronal


Fig. 9: Chest CT with intravenous contrast and multiplanar reconstruction, oblique sagittal


Fig. 10: Chest CT with intravenous contrast, axial_1


Fig. 11: Chest CT with intravenous contrast, axial_2


Fig. 12: Chest CT with intravenous contrast, axial_3


Fig. 13: Chest CT with intravenous contrast, axial_4


Fig. 14: Chest MRI without intravenous contrast, T2 weighted echo train spin echo, cornoral


Fig. 15: Chest MRI without intravenous contrast, T2/T1 steady-state gradient echo, cornoral


Fig. 16: Chest MRI without intravenous contrast, T2 weighted echo train spin echo, sagittal


Fig. 17: Chest MRI without intravenous contrast, T2/T1 steady-state gradient echo, sagittal


Fig. 18: Chest MRI without intravenous contrast, steady state free precession cine gradient recalled echo, sagittal


Fig. 19: Brain MRI without intravenous contrast, T1 weighted echo train spin echo, axial_1


Fig. 20: Brain MRI without intravenous contrast, T1 weighted echo train spin echo, axial_2


Fig. 21: Brain MRI without intravenous contrast, T2 weighted echo train spin echo, axial_1


Fig. 22: Brain MRI without intravenous contrast, T2 weighted echo train spin echo, axial_2


Fig. 23: Brain MRI without intravenous contrast, short inversion time inversion recovery echo train spin echo (STIR), axial_1


Fig. 24: Brain MRI without intravenous contrast, short inversion time inversion recovery echo train spin echo (STIR), axial_2


Fig. 25: Brain MRI without intravenous contrast, T2 weighted echo train spin echo, coronal_1


Fig. 26: Brain MRI without intravenous contrast, T2 weighted echo train spin echo, coronal_2


Fig. 27: Brain MRI without intravenous contrast, T1 weighted echo train spin echo, sagittal


Fig. 28: Brain MRI without intravenous contrast, T1 weighted echo train spin echo, sagittal


Fig. 29: Chromosome study


Fig. 30: Chromosome study

Images:

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Findings:

Figure:
1. clenched hand, left
2. rocker bottom feet
3. dropped hand, right
4. short sternum
5. omphalocele
6. short and up turned nose, malformed ears

7. Chest X-ray (after omphalocele surgical repair):
An ovoid opacity in left lower thorax wihtout change location
of stomach gas, nature to be determined.

8-13. Chest CT with intravenous contrast and multiplanar
reconstruction (after omphalocele surgical repair):
1. History of omphalocele, S/P surgery. A tiny air bubble (circle
   in fig.13) close to upper anterior abdominal wall, may due to
   post operation change.
2. Upward displacement of enlarged spleen with cephalic extension
   into left thoracic cage and compression of adjacent left lower
   lung, suggesting congenital left posterior diaphragmatic hernia
   (Bochdalek hernia). Diaphragmatic eventration, less likely.
3. Decreased aerated right lung volume and marked right side
   deviation of mediastinum, due to external compression from
   malposition spleen. Presence of secondary dextrocardia.
4. Alveolar densities infiltration in right upper lung.
5. Suspicious cardiomegaly and ventricular septal defect.
6. Small patent ductus arteriosus (arrow in fig.9,11) .
7. Accessary left hepatic artery from left gastric artery
   (small arrows in fig.13).

14-18
Chest MRI without intravenous contrast:
1. Focal left hemi-diaphragmatic defect with upward displacement of
   enlarged spleen with cephalic extension into left thoracic cage
   and compression of adjacent left lower lung, in favor of congenital
   left posterior diaphragmatic hernia (Bochdalek hernia).

19-28
Brain MRI without intravenous contrast:
1. Normal-sized posterior fossa with partial hypoplasia of
   cerebellar inferior vermis and prominent retrocerebellar
   cerebrospinal fluid space, in favor of Dandy-Walker variant
   (vermian-cerebellar hypoplasia).
2. Small size of corpus callosum, especially body and splenium,
   suggesting corpus callosum hypogenesis (fig.27,28).
3. Prominence of CSF space between two leaves of septum pellucidum,
   in favor of cavum septi pellucidi.
4. Mild interdigitation of gyri over anterior part of
   interhemispheric fissure, due to hypoplasia or fenestration of
   anterior falx cerebri (circle in fig.25).
5. Well demonstration of olfactory bulbs/tracts and pituitary short
   T1 signal.
6. Focal crescent mild short T2 and intermediate T1 fluid in
   subperiosteal space of right parietal bone, may due to
   extracranial cephalohematoma with deoxyhemoglobin.
7. A 0.4cm long T1 and T2 lesion without fat component
   in midline of tongue base (arrows in fig.19,21,23), possibly due
   to foramen cecum thyroglossal duct cyst.

29,30
Chromosome study:
Trisomy 18

Diagnosis: Trisomy 18 with omphalocele and posterior diaphragmatic hernia (Bochdalek hernia).

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