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      Duplication of the pituitary gland associated with multiple blastogenesis defects: Duplication of the pituitary gland (DPG)-plus syndrome. Case report and review of literature

      case-report

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          Abstract

          Background:

          Duplication of the pituitary gland (DPG) is a rare craniofacial developmental anomaly occurring during blastogenesis with postulated etiology such as incomplete twinning, teratogens, median cleft face syndrome or splitting of the notochord. The complex craniocaudal spectrum of blastogenesis defects associated with DPG is examined with an illustrative case.

          Case Description:

          We report for the first time in the medical literature some unique associations with DPG, such as a clival encephalocele, third cerebral peduncle, duplicate odontoid process and a double tongue with independent volitional control. This patient also has the previously reported common associations such as duplicated sella, cleft palate, hypertelorism, callosal agenesis, hypothalamic enlargement, nasopharyngeal teratoma, fenestrated basilar artery and supernumerary teeth. This study also reviews 37 cases of DPG identified through MEDLINE literature search from 1880 to 2011. It provides a detailed analysis of the current case through physical examination and imaging.

          Conclusion:

          The authors propose that the developmental deformities associated with duplication of pituitary gland (DPG) occur as part of a developmental continuum, not as chance associations. Considering the fact that DPG is uniquely and certainly present throughout the spectrum of these blastogenesis defects, we suggest the term DPG-plus syndrome.

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          Most cited references39

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          pitx3 defines an equivalence domain for lens and anterior pituitary placode.

          Rebecca Burdine, Sunit Dutta, Monte Westerfield … (2005)
          Hedgehog signaling is required for formation and patterning of the anterior pituitary gland. However, the role of Hedgehog in pituitary precursor cell specification and subsequent placode formation is not well understood. We analyzed pituitary precursor cell lineages and find that pitx3 and distal-less3b (dlx3b) expression domains define lens and pituitary precursor positions. We show that pitx3 is required for pituitary pre-placode formation and cell specification, whereas dlx3b and dlx4b are required to restrict pituitary placode size. In smoothened mutant embryos that cannot transduce Hedgehog signals, median pituitary precursors are mis-specified and form an ectopic lens. Moreover, overexpression of sonic hedgehog (shh) blocks lens formation, and derivatives of lens precursors express genes characteristic of pituitary cells. However, overexpression of shh does not increase median pituitary placode size nor does it upregulate patched (ptc) expression in pituitary precursors during early somitogenesis. Our study suggests that by the end of gastrulation, pitx3-expressing cells constitute an equivalence domain of cells that can form either pituitary or lens, and that a non-Hedgehog signal initially specifies this placodal field. During mid-somitogenesis, Hedgehog then acts on the established median placode as a necessary and sufficient signal to specify pituitary cell types.
          Article 0 comments Cited 28 times – based on 0 reviews     Review now
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            Multiple roles for Hedgehog signaling in zebrafish pituitary development.

            Jennifer L. Sbrogna, Michael Barresi, Rolf Karlstrom (2003)
            The endocrine-secreting lobe of the pituitary gland, or adenohypophysis, forms from cells at the anterior margin of the neural plate through inductive interactions involving secreted morphogens of the Hedgehog (Hh), fibroblast growth factor (FGF), and bone morphogenetic protein (BMP) families. To better understand when and where Hh signaling influences pituitary development, we have analyzed the effects of blocking Hh signaling both pharmacologically (cyclopamine treatments) and genetically (zebrafish Hh pathway mutants). While current models state that Shh signaling from the oral ectoderm patterns the pituitary after placode induction, our data suggest that Shh plays a direct early role in both pituitary induction and patterning, and that early Hh signals comes from adjacent neural ectoderm. We report that Hh signaling is necessary between 10 and 15 h of development for induction of the zebrafish adenohypophysis, a time when shh is expressed only in neural tissue. We show that the Hh responsive genes ptc1 and nk2.2 are expressed in preplacodal cells at the anterior margin of the neural tube at this time, indicating that these cells are directly receiving Hh signals. Later (15-20 h) cyclopamine treatments disrupt anterior expression of nk2.2 and Prolactin, showing that early functional patterning requires Hh signals. Consistent with a direct role for Hh signaling in pituitary induction and patterning, overexpression of Shh results in expanded adenohypophyseal expression of lim3, expansion of nk2.2 into the posterior adenohypophysis, and an increase in Prolactin- and Somatolactin-secreting cells. We also use the zebrafish Hh pathway mutants to document the range of pituitary defects that occur when different elements of the Hh signaling pathway are mutated. These defects, ranging from a complete loss of the adenohypophysis (smu/smo and yot/gli2 mutants) to more subtle patterning defects (dtr/gli1 mutants), may correlate to human Hh signaling mutant phenotypes seen in Holoprosencephaly and other congenital disorders. Our results reveal multiple and distinct roles for Hh signaling in the formation of the vertebrate pituitary gland, and suggest that Hh signaling from neural ectoderm is necessary for induction and functional patterning of the vertebrate pituitary gland.
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              Epignathus teratoma: report of three cases with a review of the literature.

              M Houcke, J Nuyts, J.-M. Cuisset … (1999)
              Three cases of epignathus teratoma associated with other midline anomalies are reported. The first case involved Pierre Robin sequence and a bifid tongue. The second case was characterized by two teratomas, a meningoencephalocele, and a cleft lip and nose. The third case had Pierre Robin sequence associated with duplication of the pituitary gland and hypoplasia of the corpus callosum.
              Article 0 comments Cited 9 times – based on 0 reviews     Review now
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                Author and article information

                Journal
                Journal ID (nlm-ta): Surg Neurol Int
                Journal ID (publisher-id): SNI
                Title: Surgical Neurology International
                Publisher: Medknow Publications & Media Pvt Ltd (India )
                ISSN (Print): 2229-5097
                ISSN (Electronic): 2152-7806
                Publication date Collection: 2012
                Publication date (Electronic): 15 February 2012
                Volume: 3
                Electronic Location Identifier: 23
                Affiliations
                [1]Division of Neurosurgery, MetroHealth Medical Center, Cleveland, Ohio
                [1 ]Department of Pediatrics, Division of Genetics, MetroHealth Medical Center, Cleveland, Ohio
                Author notes
                [* ]Corresponding author
                Article
                Publisher ID: SNI-3-23
                DOI: 10.4103/2152-7806.92939
                PMC ID: 3307243
                PubMed ID: 22439114
                SO-VID: 59a74d92-c055-4262-a84d-9d806a35104a
                Copyright © Copyright: © 2012 Manjila S.
                License:

                This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

                History
                Date received : 15 June 2011
                Date accepted : 19 December 2011
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Surgery
                Keywords: clival encephalocele,duplication of the pituitary gland,split notochord,diprosopus,blastogenesis
                Data availability:
                ScienceOpen disciplines: Surgery
                Keywords: clival encephalocele, duplication of the pituitary gland, split notochord, diprosopus, blastogenesis

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