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previously visited 081125 MILLER-DIEKER SYNDROME WITH LISSENCEPHALY Random Case
Authored By: pedrad CSH, Radiologist, Chung Shan Medical University Hospital, Taiwan.
Patient: 34 week old male
History: 34 week old male: Intrauterine growth retardation (IUGR) noted by prenatal ultrasound.
Polyhydramnios (+).
Chromosome study of amniotic fluid: 46XY, deletion of 17p13.3
Images:small[medium]largeas-submittedimages only

Fig. 1: MR_T2WI_axi

Fig. 2: MR_T2WI_cor

Fig. 3: MR_T2WI_sag

Fig. 4: MR_T2WI_axi

Fig. 5: MR_T2WI_cor

Fig. 6: MR_T2WI_sag and axi

Fig. 7: Photograph after birth
Images:small[medium]largeas-submittedimages only
Findings:

1.5 Tesla MRI of fetus at 34 weeks (focus on brain) with
 T2 weighted half-Fourier acquisition single-shot turbo spin echo,
 and without intravenous contrast (Figure 1-6):

1. BPD = 73mm; FOD = 86mm
   Cephalic index = (73/86)*100 = 84.9, within normal limit.
   HC = (73+86)x1.57 = 249.6mm.
   Estimated gestational age: 24.6-28.2 (26.9) weeks.
   Considering true gestational age of 34 weeks, small head size
   should be considered.
   Transcerebellar diameter (TCD): 32.8mm.
2. Smooth agyric brain with the brain morphology like 23-24
   gestational weeks, suggesting abnormal cortical sulcation such as
   lissencephaly.
   Presence of shallow sylvian fissures (figure-of-eight appearance)
   and sommth gray-white matter interface.
3. Enlarged subarachnoid spaces with ventricular enlargement,
   in favor of ventriculomegaly due to delayed cortical growth
   rather than hydrocephalus.
4. Large amount of amniotic fluid in the amniotic sac (figure 6),
   in favor of polyhydramnios.
5. Elevating of chorioamnionic membrane from uterine wall with much
   long T2 fluid accumulation between the chorioamnionic membrane
   and the uterus, suggesting subchorionic effusion/hematoma.

Impression:
1. Small head size with abnormal cortical sulcation,
   lissencephaly.
2. Polyhydramnios with subchorionic effusion/hematoma.

Photograph after birth (figure 7):
1. Microcephaly (head circumference= 28cm, < 3%)
1. A short nose with a depressed nasal root.
2. Anteversion of nostrils.
3. Vertical furrowing of the forehead when crying
   (arrow in figure 7).

Diagnosis: Miller-Dieker syndrome with lissencephaly
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Additional Details:

Case Number: 21479578Last Updated: 12-08-2008
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Anatomy: Cranium and Contents   Pathology: Congenital
Modality: Photograph, MRAccess Level: Readable by all users
Keywords: miller-dieker, lissencephaly, polyhydramnios,ACR: 138.1421
Case has been viewed 327 times.

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