Learning Tables







Learning Tables






Bookmark and Share

From the manuscript

The Missing Link: A Case of Absent Pituitary Infundibulum and Ectopic Neurohypophysis in a Pediatric Patient with Heterotaxy Syndrome

Free full text article: The Missing Link: A Case of Absent Pituitary Infundibulum and Ectopic Neurohypophysis in a Pediatric Patient with Heterotaxy Syndrome

Abstract
We report a case of absent pituitary infundibulum and ectopic neurohypophysis in a 4-year-old patient presenting clinically with hypopituitarism as well as heterotaxy syndrome complicated by global developmental delay and growth retardation. The clinical and laboratory workup of our patient suggested underlying hypopituitarism related to either congenital or acquired pathology, necessitating MRI to distinguish between them. We explain the various structural causes of hypopituitarism and detail how to predict the MRI findings and treatment, based on a fundamental understanding of the anatomy and pathophysiology of the hypothalamic pituitary axis and distinguishing anterior versus posterior pituitary hormone derangements. We also discuss two important theories widely acknowledged in the literature to explain congenital hypopituitarism: 1. Head trauma typically during birth resulting in a stretch injury to the infundibulum. 2. Congenital fetal maldevelopment of midline structures.






References



1. Kelly W, Kucharczyk W, Kucharczyk J. Posterior pituitary ectopia: an MR feature of pituitary dwarfism. AJNR Am J Neuroradiol 1988 May-Jun; 9(3):453-460
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


2. Varsha S, Shrikrishna A, Vijaya S. Ectopic posterior pituitary and stalk abnormality predicts severity and coexisting hormone deficiencies in patients with congenital growth hormone deficiency. Pituitary 2012; 15:243-250
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


3. Henegar MM, Koby MB, Silbergeld DL, Rich KM, Moran CJ. Intrasellar abscess following transsphenoidal surgery. Surg Neurol 1996 Feb; 45(2): 183-188
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


4. Taher G, Betty B, William H. MR Imaging of the Ectopic Bright Signal of Posterior Pituitary Regeneration. AJNR AM J Neuroradiol 1989 Mar-Apr; 10(2): 323-328
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


5. Beck E, Daniel P, Prichard M. Regeneration of hypothalamic nerve fibers in the goat. Neuroendocrinology 1969; 5(3): 161-182
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


6. Regal M, Paramo C, Sierra SM, Garcia-Mayor RV. Prevalence and incidence of hypopituitarism in an adult Caucasian population in northwestern Spain. Clin endocrinol (Oxf) 2001 Dec; 55(6):735-740
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


7. Choi SH, Kwon BJ, Na DG, Kim JH, Han MH, Chang KH. Pituitary adenoma, Craniopharyngioma, and Rathke cleft cyst involving both intrasellar and suprasellar regions: differentiation using MRI. Clin Radiol 2007 May; 62(5): 453-462
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


8. Peng J, Qi S, Pan J. Preliminary study on composition and microstructure of calcification in craniopharyngiomas. J Craniofac Surg 2016 Jun;27(4): e409-13.
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


9. Goodman RH, Post KD, Molitch ME, Adelman LS, Altemus LR, Johnston H. Eosinophilic granuloma mimicking a pituitary tumor. Neurosurgery 1979 Dec;5(6): 723-5
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


10. Dalili H, Dalili Kajan Z. Eosinophilic granuloma of the skull base: patient with unique clinical moreover, radiographic presentation. Acta Med Iran 2015; 53(1):69-73
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


11. Shimizu K, Mineharu Y, Imamura H, Asai K, Imai Y, Ichimura K, Sakai N. Intracranial germinomas in a father and his son. Childs Nerv Syst 2014 Dec; 30(12):2143-6
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


12. Wang Y, Zou L,Gao B. Intracranial germinoma: clinical and MRI findings in 56 patients. Childs Nerv Syst 2010Dec; 26(12): 1773-7
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


13. Valdueza JM, Cristante L, Dammann O. Hypothalamic hamartomas: with special reference to gelastic epilepsy and surgery. Neurosurgery 1994 Jun; 34(6):949-58
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


14. Schneider HJ, Aimaretti G, Kreitschmann-Andermahr I, Stalla GK, Ghigo E. Hypopituitarism. Lancet 2007 Apr 28; 369(9571):1461-1470
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


15. Van Aken MO, Lamberts SW. Diagnosis and treatment of hypopituitarism: an update. Pituitary 2005; 8(3-4):183-191
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


16. Prabhakar VK, Shalet SM. Aetiology, diagnosis, and management of hypopituitarism in adult life. Postgrad Med J 2006 Apr; 82(966):259-266
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


17. Kikuchi K, Fujisawa I, Momoi T. Hypothalamic-pituitary function in growth hormone-deficient patients with pituitary stalk transection. J Clin endocrinol Metab 1988 Oct; 67(4): 817-823
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


18. Jagtap S, Acharya V, Sarathi V. Ectopic posterior pituitary and stalk abnormality predicts severity and coexisting hormone deficiencies in patients with congenital growth hormone deficiency. Pituitary 2010 Jun; 15(2): 243-250
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


19. Ram N, Ali A, Hussain Z. Pituitary stalk interruption syndrome presenting as short stature: a case report. J Med Case Rep 2014 Dec; 8:445
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


20. Machinis K, Pantel J, Netchine I. Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. AM J Hum Genet 2001 Nov; 69(5): 961-968
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


21. Carvalho R, Woods S, Mendonca B. A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction. J Clin Invest 2003 Oct; 112(8): 1192-1201
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


22. Geffner ME. Hypopituitarism in childhood. Cancer control 2002 May-Jun; 9(3):212-222
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


23. Cheng-Zhi W, Ling-Ling G, Bai-Yu H. Pituitary stalk interruption syndrome: From clinical findings to pathogenesis. J Neuroendocrinol 2017 Jan; 29(1)
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


24. Kothari S. Non-cardiac issues in patients with heterotaxy syndrome. Ann Pediatr Cardiol 2014 Sep; 7(3): 187-192
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


25. Tsai EA, Grochowski CM, Falsey AM. Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia. Hum Mutat 2015 Jun; 36(6): 631-7
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


26. Kevelam SH, Van Harssel JJ, van der Zwaag B. A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 MB deletion encompassing GLI2. Am J Med Genet A 2012 Jan; 158A(1): 166-73
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


27. Clayton RN. Mortality, cardiovascular events and risk factors in hypopituitarism. Growth Horm IGF Res 1998 Feb; 8: 69-76
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine




Search for articles with similar topics

Keyword search:

1. MR imaging

2. absent infundibulum

3. ectopic posterior pituitary

4. heterotaxy syndrome

5. panhypopituitarism

6. tumors

7. infections


This article belongs to the Pediatric section.


Search for more in the Internet

Peer-reviewed Radiology Search




Discuss it!

Bookmark and Share




© Journal of Radiology Case Reports - The Interactive Radiology Journal
Affiliated journal of Radiolopolis - The International Radiology Community


The Journal of Radiology Case Reports