Pituitary gland duplication syndrome - An international imaging analysis.

Journal

AJNR. American journal of neuroradiology
ISSN: 1936-959X
Titre abrégé: AJNR Am J Neuroradiol
Pays: United States
ID NLM: 8003708

Informations de publication

Date de publication:
11 Oct 2024
Historique:
received: 13 07 2024
accepted: 09 10 2024
medline: 12 10 2024
pubmed: 12 10 2024
entrez: 11 10 2024
Statut: aheadofprint

Résumé

Duplication of the pituitary gland is a rare developmental anomaly. Multiple associated craniofacial malformations have previously been reported with the largest series to date consisting of five patients. In this multi-institutional series of ten patients, we present a detailed review of the imaging features and discuss a possible overarching pathogenesis that would explain most of the detected malformations. Inclusion criteria for this retrospective imaging review were the presence of a pituitary stalk and gland duplication and the characteristic appearance of the hypothalamic ventral midline. In addition to the clinical presentation, we recorded the imaging findings of ten patients (9 female) through onsite and online reviews. Genetic analysis was available for six patients. The duplicated pituitary stalk and gland showed normal imaging appearances in all patients. Mammillary bodies were clearly identified lateral to the characteristic prominence of the hypothalamic ventral midline. Strands of tissue extending to the anterior dura ("limited ventral myeloschisis") were noted at the medulla oblongata in 10, and at the cervical spinal cord in 7 patients. The medulla oblongata showed a "butterfly" appearance on axial images in 9 patients. Ten patients had cervical segmentation anomalies ("zipper"-like), 9 anterior-posterior brainstem patterning defects (small pons, elongated medulla), and corpus callosum measurements were abnormal in all patients. Three patients each presented with diencephalic-mesencephalic junction abnormalities and 4 with an anterior mesencephalic "cap". An oropharyngeal teratoma was present in four patients. Genetics was normal in three of the six patients studied; the remainder were found to have mutations in Duplication of the pituitary gland presents as well-defined craniofacial and cervical spine malformation phenotype. Axial mesoderm duplication generating an excess of Sonic Hedgehog may be the primary embryological driver leading to this condition. CFNS＝ Craniofrontonasal Syndrome; DPG＝ Duplication of the Pituitary Gland; SHH＝ Sonic Hedgehog.

Sections du résumé

BACKGROUND AND PURPOSE OBJECTIVE
Duplication of the pituitary gland is a rare developmental anomaly. Multiple associated craniofacial malformations have previously been reported with the largest series to date consisting of five patients. In this multi-institutional series of ten patients, we present a detailed review of the imaging features and discuss a possible overarching pathogenesis that would explain most of the detected malformations.
MATERIALS AND METHODS METHODS
Inclusion criteria for this retrospective imaging review were the presence of a pituitary stalk and gland duplication and the characteristic appearance of the hypothalamic ventral midline. In addition to the clinical presentation, we recorded the imaging findings of ten patients (9 female) through onsite and online reviews. Genetic analysis was available for six patients.
RESULTS RESULTS
The duplicated pituitary stalk and gland showed normal imaging appearances in all patients. Mammillary bodies were clearly identified lateral to the characteristic prominence of the hypothalamic ventral midline. Strands of tissue extending to the anterior dura ("limited ventral myeloschisis") were noted at the medulla oblongata in 10, and at the cervical spinal cord in 7 patients. The medulla oblongata showed a "butterfly" appearance on axial images in 9 patients. Ten patients had cervical segmentation anomalies ("zipper"-like), 9 anterior-posterior brainstem patterning defects (small pons, elongated medulla), and corpus callosum measurements were abnormal in all patients. Three patients each presented with diencephalic-mesencephalic junction abnormalities and 4 with an anterior mesencephalic "cap". An oropharyngeal teratoma was present in four patients. Genetics was normal in three of the six patients studied; the remainder were found to have mutations in
CONCLUSIONS CONCLUSIONS
Duplication of the pituitary gland presents as well-defined craniofacial and cervical spine malformation phenotype. Axial mesoderm duplication generating an excess of Sonic Hedgehog may be the primary embryological driver leading to this condition.
ABBREVIATIONS BACKGROUND
CFNS＝ Craniofrontonasal Syndrome; DPG＝ Duplication of the Pituitary Gland; SHH＝ Sonic Hedgehog.

Identifiants

DOI: 10.3174/ajnr.A8534 PMID: 39393841
pubmed: 39393841
pii: ajnr.A8534
doi: 10.3174/ajnr.A8534
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© 2024 by American Journal of Neuroradiology.

Déclaration de conflit d'intérêts

The authors have no conflicts of interest to disclose regarding the subject of this article.

Auteurs

Ulrike Löbel (U)

From the Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, UK (U.L.,F.D.), Laboratory of Developmental Biology, CNRS, Sorbonne-University, IPBS, Paris, France (M.C.), Department of Radiology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, United States (M.H.L.), Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy (R.P.), Department of Radiology, Tartu University Hospital, Tartu, Estonia (P.I., D.L., A.T.), Department of Radiology, The University of Tartu, Tartu, Estonia (P.I.), UOC Neuroradiologia, ASST Papa Giovanni XXIII, Bergamo, Italy (G.P.), Department of Radiology, Leeds Teaching Hospitals NHS Trust, Leeds, UK (I.C.), Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.S., A.R.) and Department of Health Sciences (DISSAL), University of Genoa, Genoa, Italy (A.R.).

Martin Catala (M)

From the Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, UK (U.L.,F.D.), Laboratory of Developmental Biology, CNRS, Sorbonne-University, IPBS, Paris, France (M.C.), Department of Radiology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, United States (M.H.L.), Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy (R.P.), Department of Radiology, Tartu University Hospital, Tartu, Estonia (P.I., D.L., A.T.), Department of Radiology, The University of Tartu, Tartu, Estonia (P.I.), UOC Neuroradiologia, ASST Papa Giovanni XXIII, Bergamo, Italy (G.P.), Department of Radiology, Leeds Teaching Hospitals NHS Trust, Leeds, UK (I.C.), Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.S., A.R.) and Department of Health Sciences (DISSAL), University of Genoa, Genoa, Italy (A.R.).

Felice D'Arco (F)

From the Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, UK (U.L.,F.D.), Laboratory of Developmental Biology, CNRS, Sorbonne-University, IPBS, Paris, France (M.C.), Department of Radiology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, United States (M.H.L.), Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy (R.P.), Department of Radiology, Tartu University Hospital, Tartu, Estonia (P.I., D.L., A.T.), Department of Radiology, The University of Tartu, Tartu, Estonia (P.I.), UOC Neuroradiologia, ASST Papa Giovanni XXIII, Bergamo, Italy (G.P.), Department of Radiology, Leeds Teaching Hospitals NHS Trust, Leeds, UK (I.C.), Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.S., A.R.) and Department of Health Sciences (DISSAL), University of Genoa, Genoa, Italy (A.R.).

Maarten H Lequin (MH)

From the Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, UK (U.L.,F.D.), Laboratory of Developmental Biology, CNRS, Sorbonne-University, IPBS, Paris, France (M.C.), Department of Radiology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, United States (M.H.L.), Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy (R.P.), Department of Radiology, Tartu University Hospital, Tartu, Estonia (P.I., D.L., A.T.), Department of Radiology, The University of Tartu, Tartu, Estonia (P.I.), UOC Neuroradiologia, ASST Papa Giovanni XXIII, Bergamo, Italy (G.P.), Department of Radiology, Leeds Teaching Hospitals NHS Trust, Leeds, UK (I.C.), Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.S., A.R.) and Department of Health Sciences (DISSAL), University of Genoa, Genoa, Italy (A.R.).

Rossella Pasquariello (R)

From the Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, UK (U.L.,F.D.), Laboratory of Developmental Biology, CNRS, Sorbonne-University, IPBS, Paris, France (M.C.), Department of Radiology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, United States (M.H.L.), Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy (R.P.), Department of Radiology, Tartu University Hospital, Tartu, Estonia (P.I., D.L., A.T.), Department of Radiology, The University of Tartu, Tartu, Estonia (P.I.), UOC Neuroradiologia, ASST Papa Giovanni XXIII, Bergamo, Italy (G.P.), Department of Radiology, Leeds Teaching Hospitals NHS Trust, Leeds, UK (I.C.), Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.S., A.R.) and Department of Health Sciences (DISSAL), University of Genoa, Genoa, Italy (A.R.).

Pilvi Ilves (P)

From the Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, UK (U.L.,F.D.), Laboratory of Developmental Biology, CNRS, Sorbonne-University, IPBS, Paris, France (M.C.), Department of Radiology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, United States (M.H.L.), Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy (R.P.), Department of Radiology, Tartu University Hospital, Tartu, Estonia (P.I., D.L., A.T.), Department of Radiology, The University of Tartu, Tartu, Estonia (P.I.), UOC Neuroradiologia, ASST Papa Giovanni XXIII, Bergamo, Italy (G.P.), Department of Radiology, Leeds Teaching Hospitals NHS Trust, Leeds, UK (I.C.), Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.S., A.R.) and Department of Health Sciences (DISSAL), University of Genoa, Genoa, Italy (A.R.).

Dagmar Loorits (D)

From the Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, UK (U.L.,F.D.), Laboratory of Developmental Biology, CNRS, Sorbonne-University, IPBS, Paris, France (M.C.), Department of Radiology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, United States (M.H.L.), Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy (R.P.), Department of Radiology, Tartu University Hospital, Tartu, Estonia (P.I., D.L., A.T.), Department of Radiology, The University of Tartu, Tartu, Estonia (P.I.), UOC Neuroradiologia, ASST Papa Giovanni XXIII, Bergamo, Italy (G.P.), Department of Radiology, Leeds Teaching Hospitals NHS Trust, Leeds, UK (I.C.), Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.S., A.R.) and Department of Health Sciences (DISSAL), University of Genoa, Genoa, Italy (A.R.).

Annika Tähepõld (A)

From the Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, UK (U.L.,F.D.), Laboratory of Developmental Biology, CNRS, Sorbonne-University, IPBS, Paris, France (M.C.), Department of Radiology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, United States (M.H.L.), Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy (R.P.), Department of Radiology, Tartu University Hospital, Tartu, Estonia (P.I., D.L., A.T.), Department of Radiology, The University of Tartu, Tartu, Estonia (P.I.), UOC Neuroradiologia, ASST Papa Giovanni XXIII, Bergamo, Italy (G.P.), Department of Radiology, Leeds Teaching Hospitals NHS Trust, Leeds, UK (I.C.), Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.S., A.R.) and Department of Health Sciences (DISSAL), University of Genoa, Genoa, Italy (A.R.).

Giulio Pezzetti (G)

From the Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, UK (U.L.,F.D.), Laboratory of Developmental Biology, CNRS, Sorbonne-University, IPBS, Paris, France (M.C.), Department of Radiology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, United States (M.H.L.), Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy (R.P.), Department of Radiology, Tartu University Hospital, Tartu, Estonia (P.I., D.L., A.T.), Department of Radiology, The University of Tartu, Tartu, Estonia (P.I.), UOC Neuroradiologia, ASST Papa Giovanni XXIII, Bergamo, Italy (G.P.), Department of Radiology, Leeds Teaching Hospitals NHS Trust, Leeds, UK (I.C.), Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.S., A.R.) and Department of Health Sciences (DISSAL), University of Genoa, Genoa, Italy (A.R.).

Ian Craven (I)

From the Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, UK (U.L.,F.D.), Laboratory of Developmental Biology, CNRS, Sorbonne-University, IPBS, Paris, France (M.C.), Department of Radiology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, United States (M.H.L.), Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy (R.P.), Department of Radiology, Tartu University Hospital, Tartu, Estonia (P.I., D.L., A.T.), Department of Radiology, The University of Tartu, Tartu, Estonia (P.I.), UOC Neuroradiologia, ASST Papa Giovanni XXIII, Bergamo, Italy (G.P.), Department of Radiology, Leeds Teaching Hospitals NHS Trust, Leeds, UK (I.C.), Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.S., A.R.) and Department of Health Sciences (DISSAL), University of Genoa, Genoa, Italy (A.R.).

Mariasavina Severino (M)

From the Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, UK (U.L.,F.D.), Laboratory of Developmental Biology, CNRS, Sorbonne-University, IPBS, Paris, France (M.C.), Department of Radiology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, United States (M.H.L.), Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy (R.P.), Department of Radiology, Tartu University Hospital, Tartu, Estonia (P.I., D.L., A.T.), Department of Radiology, The University of Tartu, Tartu, Estonia (P.I.), UOC Neuroradiologia, ASST Papa Giovanni XXIII, Bergamo, Italy (G.P.), Department of Radiology, Leeds Teaching Hospitals NHS Trust, Leeds, UK (I.C.), Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.S., A.R.) and Department of Health Sciences (DISSAL), University of Genoa, Genoa, Italy (A.R.).

Andrea Rossi (A)

From the Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, UK (U.L.,F.D.), Laboratory of Developmental Biology, CNRS, Sorbonne-University, IPBS, Paris, France (M.C.), Department of Radiology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, United States (M.H.L.), Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy (R.P.), Department of Radiology, Tartu University Hospital, Tartu, Estonia (P.I., D.L., A.T.), Department of Radiology, The University of Tartu, Tartu, Estonia (P.I.), UOC Neuroradiologia, ASST Papa Giovanni XXIII, Bergamo, Italy (G.P.), Department of Radiology, Leeds Teaching Hospitals NHS Trust, Leeds, UK (I.C.), Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.S., A.R.) and Department of Health Sciences (DISSAL), University of Genoa, Genoa, Italy (A.R.).

Classifications MeSH