218 lines
20 KiB
Markdown
218 lines
20 KiB
Markdown
---
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title: "Absent/Thin Infundibular Stalk"
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docid: "28acc91f-2d29-40b9-8a91-b02f16fe1284"
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authors:
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- key: "d19354f3-7ff2-495a-ad3f-064122e45602"
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value: "Bernadette L. Koch, MD"
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- key: "f184750a-90b4-47a7-907b-23b05d70357a"
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value: "Chang Yueh Ho, MD"
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- key: "5cff4116-3654-4b3a-bb75-5ebe0b8c9850"
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value: "Anne G. Osborn, MD, FACR"
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breadcrumbs:
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-
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name: "Brain"
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slug: "brain"
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treeNodeId: "6d8829f1-14d7-45af-8675-255189aa526a"
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-
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name: "Differential Diagnosis"
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slug: "differential-diagnosis"
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treeNodeId: "a7fdd139-664e-4bb8-8d18-400e4733ff60"
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-
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name: "Sella/Juxtasellar, Pineal Region"
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slug: "sellajuxtasellar-pineal-region"
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treeNodeId: "5e38b9c1-3137-47e3-aa83-1fc82cb4099a"
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-
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name: "Anatomically Based Differentials"
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slug: "anatomically-based-differentials"
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treeNodeId: "7a51b2ca-8fee-4c16-aff3-b7189f68ea60"
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-
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name: "Absent/Thin Infundibular Stalk"
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slug: "absentthin-infundibular-stalk"
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treeNodeId: null
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category: "Brain"
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cmeTopicId: "de5d172c-08db-4868-91e2-2c4c5abb46f8"
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documentVersionId: "4bb611b8-7285-4280-8fd5-85245ba57fcb"
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imageCount: 19
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lastUpdated: "02/01/23"
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pageDescription: "Absent/Thin Infundibular Stalk"
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pageKeywords: "Brain, Differential Diagnosis, Sella/Juxtasellar, Pineal Region, Anatomically Based Differentials, Absent/Thin Infundibular Stalk"
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pageTitle: "Absent/Thin Infundibular Stalk | STATdx"
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enhancedTitle: "Absent/Thin Infundibular Stalk"
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type: "DDX"
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references: true
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breadcrumbs:
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- "Brain"
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- "Differential Diagnosis"
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- "Sella/Juxtasellar, Pineal Region"
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- "Anatomically Based Differentials"
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- "Absent/Thin Infundibular Stalk"
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---
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# ESSENTIAL INFORMATION
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- ## Key Differential Diagnosis Issues
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- Congenital or acquired
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- History of trauma or sellar/suprasellar surgery
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- ## Helpful Clues for Common Diagnoses
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- **Pituitary Stalk Transection, Posttraumatic**
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- Usually occurs following motor vehicle accident
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- Can occur with closed head injury
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- ± accompanying basilar skull fracture
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- **Pituitary Stalk Transection,****Postsurgical**
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- Children: Commonly after craniopharyngioma resection
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- Adults: Commonly after macroadenoma resection
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- ## Helpful Clues for Less Common Diagnoses
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- **Septo-Optic Dysplasia**
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- Optic nerve hypoplasia, often asymmetric
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- ± absent septum pellucidum, sometimes partial
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- ± ectopic posterior pituitary
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- Pituitary dysfunction in most patients, even if normal-appearing pituitary
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- ± polymicrogyria &/or schizencephaly
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- **Holoprosencephaly**
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- Failure of prosencephalon cleavage
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- 70% with diabetes insipidus from hypothalamic fusion
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- **Pituitary Stalk Anomalies**
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- **Ectopic posterior pituitary**
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- Posterior pituitary T1 "bright spot" in hypothalamus
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- Rarely partial ectopia: 1 bright spot in normal location & 1 ectopic
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- Stalk thin or absent, shallow sella, small pituitary
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- Associated with septo-optic dysplasia
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- **Duplicated stalk**
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- 2 separate, thinned stalks seen on coronal view
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- Associated with 2 pituitary glands and basilar arteries
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- Tuber cinereum thickened, often fused with mammary bodies
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- Craniofacial anomalies
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- Theorized from splitting of rostral notochord during blastogenesis
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- **Persistent embryonic infundibular recess**
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- Proposed from failure of closure of embryonal infundibular recess
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- Tubular cyst of stalk connecting 3rd ventricle and sella
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- Best seen on sagittal views
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- **Pituitary Stalk Interruption Syndrome**
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- Pickardt-Fahlbusch syndrome
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- Most likely multigenic origin and inheritance pattern
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- Whole exome sequencing potential genes related to the Wnt, Notch, & sonic hedgehog signaling pathways that regulate pituitary embryogenesis
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- Thin, interrupted, attenuated or absent pituitary stalk
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- Aplasia or hypoplasia of anterior pituitary
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- Absent or ectopic posterior pituitary
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- Hormonal deficiencies except for hyperprolactinemia
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- Most patients referred later in childhood for growth retardation
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- Viewed as mild form of holoprosencephaly spectrum
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- ## Helpful Clues for Rare Diagnoses
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- **Meningitis**
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- Children with group B streptococcus
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- Diencephalic infarction
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- Secondary atrophy of optic chiasm, pituitary stalk
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- **Neurocysticercosis**
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- Racemose neurocysticercosis cysts stretch infundibular stalk
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## References
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# Selected References
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1. [Huang J et al: Noncontrast MRI protocol for selected pediatric pituitary endocrinopathies: a procedure with high diagnostic yield and potential to reduce anesthesia and gadolinium-based contrast exposure. AJNR Am J Neuroradiol. 42(10):1884-90, 2021](http://www.ncbi.nlm.nih.gov/pubmed/?term=34475192%5Bpmid%5D)
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1. [Voutetakis A: Pituitary stalk interruption syndrome. Handb Clin Neurol. 181:9-27, 2021](http://www.ncbi.nlm.nih.gov/pubmed/?term=34238482%5Bpmid%5D)
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1. [Brauner R et al: Pituitary stalk interruption syndrome is characterized by genetic heterogeneity. PLoS One. 15(12):e0242358, 2020](http://www.ncbi.nlm.nih.gov/pubmed/?term=33270637%5Bpmid%5D)
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1. [Ybarra M et al: A new imaging entity consistent with partial ectopic posterior pituitary gland: report of six cases. Pediatr Radiol. 50(1):107-15, 2020](http://www.ncbi.nlm.nih.gov/pubmed/?term=31468085%5Bpmid%5D)
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1. [Sen D et al: Duplication of the pituitary gland - plus syndrome. Indian J Radiol Imaging. 26(1):126-30, 2016](http://www.ncbi.nlm.nih.gov/pubmed/?term=27081236%5Bpmid%5D)
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1. [Voutetakis A et al: Pituitary stalk interruption syndrome: cause, clinical manifestations, diagnosis, and management. Curr Opin Pediatr. 28(4):545-50, 2016](http://www.ncbi.nlm.nih.gov/pubmed/?term=27386973%5Bpmid%5D)
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1. [Glastonbury CM et al: Masses and malformations of the third ventricle: normal anatomic relationships and differential diagnoses. Radiographics. 31(7):1889-905, 2011](http://www.ncbi.nlm.nih.gov/pubmed/?term=22084178%5Bpmid%5D)
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1. [Reynaud R et al: Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms. Eur J Endocrinol. 164(4):457-65, 2011](http://www.ncbi.nlm.nih.gov/pubmed/?term=21270112%5Bpmid%5D)
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1. [Steno A et al: Persisting embryonal infundibular recess. J Neurosurg 110: 359-62, 2009](http://www.ncbi.nlm.nih.gov/pubmed/?term=18950267%5Bpmid%5D)
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## Images
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### Selected Images
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**Pituitary Stalk Transection, Posttraumatic**
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*Sagittal T1 C+ MR shows surgical absence of the pituitary stalk and hypothalamus <img src='img/arrows/WS.png'/> from a transsphenoidal approach. Postsurgical changes are seen in the sphenoid sinus and nasal cavity <img src='img/arrows/WO.png'/>.*
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**Pituitary Stalk Transection, Posttraumatic**
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*Sagittal T1 C+ MR shows surgical absence of the pituitary stalk and hypothalamus <img src='img/arrows/WS.png'/> from a transsphenoidal approach. Postsurgical changes are seen in the sphenoid sinus and nasal cavity <img src='img/arrows/WO.png'/>.*
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**Septo-Optic Dysplasia**
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*Coronal T2 MR shows absence of the septum pellucidum <img src='img/arrows/WS.png'/> and thinning of the pituitary infundibulum <img src='img/arrows/WO.png'/>. Other midline defects of septo-optic dysplasia not shown here include optic nerve hypoplasia and ectopic posterior pituitary.*
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**Septo-Optic Dysplasia**
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*Coronal T1 MR shows absence of the septum pellucidum <img src='img/arrows/WS.png'/> and nodular T1 hyperintensity in the hypothalamus <img src='img/arrows/WO.png'/>, consistent with ectopic posterior pituitary. The infundibulum is not visualized.*
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**Holoprosencephaly**
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*Sagittal T1 MR shows ectopic posterior pituitary <img src='img/arrows/WS.png'/>, absent infundibulum, and shallow sella with hypoplastic pituitary gland <img src='img/arrows/WO.png'/>. Additionally, there is dysplasia of the callosal genu <img src='img/arrows/WC.png'/> with thickening around the anterior commissure from fusion of the caudate nuclei <img src='img/arrows/BS.png'/> in this case of semilobar holoprosencephaly.*
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**Pituitary Stalk Anomalies**
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*Sagittal T1 MR in a child with short stature and growth hormone deficiency shows a lack of normal posterior pituitary bright spot in the dorsal aspect of the sella. Instead, there is an ectopic posterior pituitary bright spot <img src='img/arrows/WS.png'/> and absent pituitary stalk <img src='img/arrows/WO.png'/>.*
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**Pituitary Stalk Interruption Syndrome**
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*T1 C+ MR shows a T1-hyperintense mass of the hypothalamus <img src='img/arrows/WS.png'/>, which was hyperintense prior to contrast. There is a lack of normal enhancing infundibulum. Ectopic posterior pituitary and absent stalk is a potential radiographic finding for stalk interruption syndrome.*
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**Pituitary Stalk Anomalies**
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*Coronal T1 C+ FS MR in an 8-year-old child with multiple congenital anomalies demonstrates duplicated infundibular stalks <img src='img/arrows/WS.png'/> and adenohypophyses <img src='img/arrows/WO.png'/> and thickening of the hypothalamus <img src='img/arrows/WC.png'/>.*
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**Pituitary Stalk Anomalies**
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*Axial T2 MR shows a persistent infundibular recess <img src='img/arrows/WS.png'/>. There is additional cleft lip <img src='img/arrows/WO.png'/> and hydrocephalus with medial atrial diverticulum <img src='img/arrows/WC.png'/>.*
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### Additional Images
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**Pituitary Stalk Anomalies**
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*Sagittal T1 MR shows enlarged CSF space communicating from a displaced 3rd ventricle into a persistent infundibular recess <img src='img/arrows/WS.png'/>. Note fat within a persistent craniopharyngeal canal <img src='img/arrows/WO.png'/>, cleft palate <img src='img/arrows/WC.png'/>, and downward herniation of the cerebellum <img src='img/arrows/BS.png'/> due to hydrocephalus from aqueductal stenosis.*
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**Pituitary Stalk Anomalies**
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*.Coronal T1 MR shows thinned, duplicated infundibular stalks <img src='img/arrows/WS.png'/> and thickening of the tuber cinereum <img src='img/arrows/WO.png'/>.*
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**Pituitary Stalk Transection, Posttraumatic**
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*Sagittal T1 MR in a patient with hypopituitarism following transsphenoidal hypophysectomy <img src='img/arrows/WS.png'/> shows an empty sella <img src='img/arrows/WO.png'/> and a very thin, attenuated infundibular stalk <img src='img/arrows/WC.png'/>.*
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**Pituitary Stalk Transection, Postsurgical**
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*Sagittal T1 C+ FS MR following transsphenoidal hypophysectomy shows that the thinned stalk <img src='img/arrows/WS.png'/> is stretched and retracted inferiorly into the partially empty sella <img src='img/arrows/BO.png'/>.*
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**Pituitary Stalk Transection, Posttraumatic**
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*Coronal T1 MR in a child with remote head trauma who subsequently developed pituitary insufficiency shows traumatic cephalocele <img src='img/arrows/WS.png'/> and absent/inapparent pituitary stalk <img src='img/arrows/WO.png'/>.*
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**Pituitary Stalk Transection, Postsurgical**
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*Sagittal T1WI MR after transsphenoidal hypophysectomy shows a very thin infundibular stalk <img src='img/arrows/WS.png'/> along with secondary empty sella <img src='img/arrows/WO.png'/>.*
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**Pituitary Stalk Anomalies**
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*Sagittal T1 MR in a 2-year-old child with short stature and abnormally low bone age shows an absent infundibular stalk <img src='img/arrows/WS.png'/>, ectopic posterior pituitary bright spot <img src='img/arrows/WO.png'/>, and small pituitary gland <img src='img/arrows/WC.png'/>.*
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**Pituitary Stalk Anomalies**
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*Coronal T1 MR shows absent stalk <img src='img/arrows/WS.png'/> and ectopic posterior pituitary bright spot in the hypothalamus <img src='img/arrows/WO.png'/>.*
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**Pituitary Stalk Anomalies**
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*Sagittal T1 MR shows 2 small-sized pituitary stalks <img src='img/arrows/WS.png'/> in this case of duplicated pituitary stalks. Note abnormal configuration of posterior pituitary <img src='img/arrows/WO.png'/>.*
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**Septo-Optic Dysplasia**
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*Coronal T2 MR shows classic SOD with thin stalk <img src='img/arrows/BC.png'/>, inferiorly "pointed" frontal horns <img src='img/arrows/WS.png'/> , and absent septum pellucidum with squared-off appearance of lateral ventricles <img src='img/arrows/WO.png'/>.*
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**Neurocysticercosis**
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*Sagittal T1 C+ MR shows racemose neurocysticercosis cysts <img src='img/arrows/WS.png'/> surrounding and stretching the infundibular stalk <img src='img/arrows/WO.png'/>, extending into the sella and flattening the pituitary gland against the floor <img src='img/arrows/WC.png'/>.*
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