| Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome. | |
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MedLine Citation:
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PMID: 19449422 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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An hypothalamic hamartoma is an abnormal mass of mature glio-neuronal tissue present in the hypothalamic area. It usually measures <2 cm of diameter. Most of the time, this hamartoma occurs in Pallister-Hall syndrome (PHS), due to heterozygous GLI3 mutations. We report on five fetuses with giant diencephalic hamartoma and other midline brain and facial malformations, without mutation in the GLI3 gene or genomic rearrangements in three of them. The fetuses showed facial asymmetry, unilateral ear and eye anomalies, and facial cleft. Extracephalic malformations consisted of vertebral anomalies and short nails, without polydactyly and cardiac malformation. The diencephalon was replaced by an encephaloid mass protruding into the facial cleft. Normal cerebral structures were not detectable. In one patient, holoprosencephaly of the syntelencephalic type was noted. Arhinencephaly was present in all patients. Histologically, the ill-defined, multilobulated lesion was made of neuroblastic and neurocytic cell foci, lying in a fibrillar network, elaborating sometimes perivascular pseudorosettes, with a maturation gradient in accordance with the fetal age. Owing to their location, the tumors could be described as diencephalic, rather than hypothalamic hamartomas. The striking asymmetry of the facial anomalies and the diencephalic malformations are not in the spectrum observed with PHS and related syndromes, suggesting a distinct entity involving abnormal morphogenetic developmental fields at around 5 weeks of gestation. |
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Authors:
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Fabien Guimiot; Pascale Marcorelles; Azzedine Aboura; Georges Bonyhay; Sophie Patrier; Françoise Menez; Valérie Drouin-Garraud; Valentine Icowick; Danièle Eurin; Catherine Garel; Hélène Moirot; Eric Verspyck; Pascale Saugier-Veber; Tania Attie-Bitach; Olivier Picone; Jean François Oury; Alain Verloes; Anne Lise Delezoide; Annie Laquerrière |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 149A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2009 Jun |
Date Detail:
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Created Date: 2009-06-02 Completed Date: 2009-07-30 Revised Date: 2009-12-30 |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 1108-15 Citation Subset: IM |
Copyright Information:
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(c) 2009 Wiley-Liss, Inc. |
Affiliation:
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Department of Developmental Biology, AP-HP- Robert Debré Hospital, Denis Diderot University, Paris, France. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Abortion, Induced Adult Diencephalon / pathology* Facies Female Gestational Age Hamartoma / genetics* Humans Pallister-Hall Syndrome* Pregnancy Syndrome Ultrasonography, Prenatal |
| Comments/Corrections | |
Comment In:
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Am J Med Genet A. 2010 Jan;152A(1):264-6; author reply 267-8
[PMID:
20034093
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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