Abstract
We describe a child from consanguineous parents presenting mega corpus callosum (MegaCC), polymicrogyria, psychomotor retardation with swallowing difficulties and language impairment perhaps linked to the syndrome of megalencephaly-polymicrogyria-mega corpus callosum (MEG-PMG-MegaCC). Reviewing the literature, we speculate that MegaCC, psychomotor retardation and anomalies in cortical migration are the three pathognomonic features. The presence of additional possibly associated anomalies such as megalencephaly, indicates that the spectrum of linked malformations with this rare syndrome is broad and yet to be defined.
| Original language | English |
|---|---|
| Pages (from-to) | 590-594 |
| Number of pages | 5 |
| Journal | Neuroradiology Journal |
| Volume | 27 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - Oct 1 2014 |
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Keywords
- Mega corpus callosum
- Polymicrogyria
- Psychomotor retardation
ASJC Scopus subject areas
- Clinical Neurology
- Radiology Nuclear Medicine and imaging
Cite this
Polymicrogyria, large corpus callosum and psychomotor retardation in four-year-old girl : Potential association based on mr findings: A case report and literature review. / Budai, Caterina; Moscato, Giulia; Patruno, Francesco; Leonardi, Marco; Maffei, Monica.
In: Neuroradiology Journal, Vol. 27, No. 5, 01.10.2014, p. 590-594.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Polymicrogyria, large corpus callosum and psychomotor retardation in four-year-old girl
T2 - Potential association based on mr findings: A case report and literature review
AU - Budai, Caterina
AU - Moscato, Giulia
AU - Patruno, Francesco
AU - Leonardi, Marco
AU - Maffei, Monica
PY - 2014/10/1
Y1 - 2014/10/1
N2 - We describe a child from consanguineous parents presenting mega corpus callosum (MegaCC), polymicrogyria, psychomotor retardation with swallowing difficulties and language impairment perhaps linked to the syndrome of megalencephaly-polymicrogyria-mega corpus callosum (MEG-PMG-MegaCC). Reviewing the literature, we speculate that MegaCC, psychomotor retardation and anomalies in cortical migration are the three pathognomonic features. The presence of additional possibly associated anomalies such as megalencephaly, indicates that the spectrum of linked malformations with this rare syndrome is broad and yet to be defined.
AB - We describe a child from consanguineous parents presenting mega corpus callosum (MegaCC), polymicrogyria, psychomotor retardation with swallowing difficulties and language impairment perhaps linked to the syndrome of megalencephaly-polymicrogyria-mega corpus callosum (MEG-PMG-MegaCC). Reviewing the literature, we speculate that MegaCC, psychomotor retardation and anomalies in cortical migration are the three pathognomonic features. The presence of additional possibly associated anomalies such as megalencephaly, indicates that the spectrum of linked malformations with this rare syndrome is broad and yet to be defined.
KW - Mega corpus callosum
KW - Polymicrogyria
KW - Psychomotor retardation
UR - http://www.scopus.com/inward/record.url?scp=84908173066&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84908173066&partnerID=8YFLogxK
U2 - 10.15274/NRJ-2014-10065
DO - 10.15274/NRJ-2014-10065
M3 - Article
AN - SCOPUS:84908173066
VL - 27
SP - 590
EP - 594
JO - Neuroradiology Journal
JF - Neuroradiology Journal
SN - 1971-4009
IS - 5
ER -