Pituitary Stalk Interruption Syndrome: Presentation of a Rare Case

Abstract

Pituitary stalk interruption syndrome is a congenital anomaly characterized by interrupted or thin pituitary stalk, hypoplastic or absent anterior pituitary, and an absent or ectopic posterior pituitary gland. The exact incidence rate of this syndrome is not known. However, the estimated incidence rate is 0.5/1,000,000 births. In this case report, we wanted to present a case of interrupted pituitary stalk syndrome, which presented with seizures and thyroid hormone deficiency. A 5-year-old female patient was admitted to our emergency department with vomiting, fever, and seizures with new onset. She had a twin who was ex-utero intrapartum in taken history. She was diagnosed with hypothyroidism and started on levothyroxine. Her height was in 25 to 50th percentile and her weight was in 10 to 25th percentile. She had mild mental retardation. On contrast-enhanced cranial magnetic resonance imaging scan, the pituitary stalk was absent, posterior pituitary was ectopic, and anterior pituitary was hypoplastic. The patient was diagnosed with interrupted pituitary stalk syndrome. After the symptoms were relieved, patient started on carbamazepine for epileptic seizures and hormone replacement therapy with levothyroxine and hydrocortisone. She was routinely followed up after the proper diagnosis. Leuprolide (gonadotropin-releasing hormone) and Norditropin (biosynthetic growth hormone) were added to medical therapy. Her height and weight were in 25th percentile after the long-term follow-up of approximately 10 years. On neurological examination, situation of mild mental retardation persisted. Pituitary stalk interruption syndrome is a very rare entity. However, radiologists should keep this syndrome in mind for patients who present with hypoglycemia, seizures, jaundice, cryptorchidism, and hypothyroidism in neonatal period and growth retardation with pituitary hormone deficiencies in childhood.

Keywords

pituitary stalk transection syndrome - pituitary stalk interruption syndrome - growth retardation

Learning Points

1. To keep the pituitary stalk interruption syndrome in mind, in the differential diagnosis of neonatal hypoglycemia, hypothyroidism, and convulsions.

2. To remind pituitary stalk interruption syndrome in cases of multiple pituitary hormone deficiencies in childhood.

3. To distinguish between imaging findings of pituitary stalk interruption syndrome, ectopic posterior pituitary gland, and pituitary lipomas.

• References

• 1 Lee SS, Han AL, Ahn MB. , et al. Growth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome. Ann Pediatr Endocrinol Metab 2017; 22 (01) 55-59
• 2 Ioachimescu AG, Hamrahian AH, Stevens M, Zimmerman RS. The pituitary stalk transection syndrome: multifaceted presentation in adulthood. Pituitary 2012; 15 (03) 405-411
• 3 Gutch M, Kumar S, Razi SM, Saran S, Gupta KK. Pituitary stalk interruption syndrome: case report of three cases with review of literature. J Pediatr Neurosci 2014; 9 (02) 188-191
• 4 El Chehadeh-Djebbar S, Callier P, Masurel-Paulet A. , et al. 17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome. Eur J Med Genet 2011; 54 (03) 369-373
• 5 Pituitary stalk interruption syndrome. Orphanet. 2010 ; Available at: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=95496 . Accessed March 20, 2018.
• 6 Bar C, Zadro C, Diene G. , et al. Pituitary stalk interruption syndrome from infancy to adulthood: clinical, hormonal, and radiological assessment according to the initial presentation. PLoS One 2015; 10 (11) e0142354
• 7 Karaca E, Buyukkaya R, Pehlivan D. , et al. Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. J Clin Endocrinol Metab 2015; 100 (01) E140-E147
• 8 Triulzi F, Scotti G, di Natale B. , et al. Evidence of a congenital midline brain anomaly in pituitary dwarfs: a magnetic resonance imaging study in 101 patients. Pediatrics 1994; 93 (03) 409-416
• 9 Kelly WM, Kucharczyk W, Kucharczyk J. , et al. Posterior pituitary ectopia: an MR feature of pituitary dwarfism. Am J Neuroradiol 1988; 9 (03) 453-460
• 10 Fujisawa I, Kikuchi K, Nishimura K. , et al. Transection of the pituitary stalk: development of an ectopic posterior lobe assessed with MR imaging. Radiology 1987; 165 (02) 487-489
• 11 Jang KM, Ko CW. Delayed diagnosis of pituitary stalk interruption syndrome with severe recurrent hyponatremia caused by adrenal insufficiency. Ann Pediatr Endocrinol Metab 2017; 22 (03) 208-212
• 12 Tauber M, Chevrel J, Diene G. , et al. Long-term evolution of endocrine disorders and effect of GH therapy in 35 patients with pituitary stalk interruption syndrome. Horm Res 2005; 64 (06) 266-273
• 13 Guo Q, Yang Y, Mu Y. , et al. Pituitary stalk interruption syndrome in Chinese people: clinical characteristic analysis of 55 cases. PLoS One 2013; 8 (01) e53579