AI Article Synopsis
- Duplication of the pituitary gland is a rare condition, typically associated with various craniofacial malformations; this study reviewed ten patients to explore imaging features and potential causes of these anomalies.
- The imaging review focused on identifying the duplicated pituitary stalk and gland, along with noting distinct features of the hypothalamic region and associated abnormalities in the brain and spinal cord.
- The findings revealed normal imaging of the pituitary structures but several significant malformations and genetic mutations in the patients, indicating a complex interplay of developmental issues related to this anomaly.
Article Abstract
Background And Purpose: 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: 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: 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 and a gene variant of , two copies of 7. And 8. exon of gene, and 2.126 megabase duplication at bands q11.1 and q11.2 of one chromosome 15, respectively.
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: CFNS＝ Craniofrontonasal Syndrome; DPG＝ Duplication of the Pituitary Gland; SHH＝ Sonic Hedgehog.
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