Search :     
Cases

2015-08-08-22 Answer to the case of the week #401 © Badr www.TheFetus.net 


Answer to the case of the week #401

August 13, 2015 - August 27, 2015

Islam Badr, M.Sc.1Sameh Abdel Latif Abdel Salam, M.Sc.2.

1. Fetal medicine unit, Cairo university, Egypt.
2. Radiodiagnosis department, Kasr Alainy teaching hospitals, Cairo university, Egypt.

 
Case report

A female patient, 30 years old (G3P2+0), with unremarkable medical history was referred to us at 29 weeks due to small fetal head size. Our ultrasound examination revealed the following:

Images 1a, 1b, video 1 and 2: The images and videos show smooth brain surface (arrow) with multiple cysts separated by hyperechogenic bands of brain tissue.

 

 

Image 2: The image shows cerebellar hypoplasia.

 

Images 3, 4, 5, and video 3: The images and video show multiple cysts separated by hyperechogenic bands of glial tissue.

 

 

Images 6a, 6b, 7: a supracerebellar cyst is noted (arrow).

 



Image 8: hyperechogenic bands of glial tissue is noted.



Image 9: shows intact upper lip.



Image 10 and video 5: the image and vieo show mild micrognathia which was confirmed postnatally.

 

Video 6 and 7 show multiple cysts which are separated by hyperechogenic bands of glial tissue.

 

Image 11: shows normal eye lens.



Biometry of the fetus:







Our final diagnosis was lissencephay with cerebellar hypoplasia in association with multicystic encephalomalacia. After counseling with the parents they opted for termination of the pregnancy. The fetus was delivered in a severe state of hypotonia and died one hour after delivery. The microcephaly and the mild micrognathia were confirmed and a transcranial ultrasound confirmed our findings (the parents did not wish to take photographs of their fetus after delivery).

Discussion 

Lissencephaly with cerebellar hypoplasia (LCH) has been recently defined as different group of lissencephaly, which is not included in either classical or cobblestone types. Pachygyria and cerebellar hypoplasia were among the MRI features described for this diagnosis by Bulakbasi et al. (2004) in an 8 years old child. An autosomal recessive pattern of inheritence has been described. It is associated with RELN mutation. Phenotypically small head circumference, cortical abnormalities and cerebellar hypoplsia are noticed. 

Our case represents a case of lissencephaly with cerebellar hypoplasia which also manifested microcephaly and mild micrognathia. The case was associated with multicystic encephalomalacia. Magen et al. (2015) in their postnatal series described cases of lissencephaly with cerebellar hypoplasia which also had microcephaly and micrognathia among the phenotypic expression of their cases. To the best of our best knowledge; we are unaware of any prenatal reporting of this well established postnatal diagnosis.

References

1. Bulakbasi N,  Kocaoglu M, Üstünsöz B, Tayfun C, Somuncu I. MRI features of lissencephaly with cerebellar hypoplasia. CMIG Extra: Cases. 2004 Jan; 28(1):4-7.
2. Hong SE, Shugart YY, Huang DT, Shahwan SA, Grant PE, Hourihane JO, Martin ND, Walsh CA. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet (Abstract). 2000 Sep;26(1):93-6.
3. Ross M.E , Swanson K , Dobyns W.B. Lissencephaly with Cerebellar Hypoplasia (LCH): A Heterogeneous Group of Cortical Malformations. Neuropediatrics (Abstract). 2001; 32(5): 256-263.
4. Magen D1, Ofir A, Berger L, Goldsher D, Eran A, Katib N, Nijem Y, Vlodavsky E, Tzur S, Behar DM, Fellig Y, Mandel H. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. Hum Genet. 2015 Mar;134(3):305-14. 

Back to case
Help Support TheFetus.net :