The online version of this article (doi:10.1186/s12902-015-0037-y) contains supplementary material, which is available to authorized users.
Stefano Stagi (SStagi), Giovanna Traficante (GT), Elisabetta Lapi (EL), Marilena Pantaleo (MP), Sabrina Becciani (SB), Marzia Mortilla (MM), Salvatore Seminara (SSeminara) and Maurizio de Martino (MdM) have no financial interests to disclose and no conflict of interest to declare.
SStagi carried out the endocrinological evaluation, conceived of the study, and participated in its design. GT performed the clinical genetic evaluation, conceived of the study, and participated in its design. EL performed the clinical genetic evaluation, and revised critically the manuscript. MP performed the molecular genetic studies, participated in the acquisition of data, and was involved in drafting the manuscript. SB performed the endocrinological evaluation, participated in the acquisition of data, and was involved in drafting the manuscript. MM performed the neuroradiological evaluation, was involved in drafting, and revised critically the manuscript. SSeminara performed the endocrinological evaluation and revised critically the manuscript. MdM participated in the endocrinological evaluation and participated in its coordination. All authors read and approved the final manuscript.
Agenesis of the internal carotid artery (ICA) is a rare congenital abnormality, sporadically reported to be associated with a combined congenital hypopituitarism. Nevertheless, only a few cases have been extensively described, and none of these have been characterized by an isolated growth hormone (GH) deficiency.
Here, we describe a 17-year old boy referred to our hospital for fatigue, decreased muscle strength and severe headache reported after the cessation of rhGH treatment for a GH deficiency diagnosed at the age of 2 years and 3 months. Magnetic resonance imaging (MRI) showed an adenohypophyseal hypoplasia with a lack of posterior pituitary hyperintensity, whereas MRI angiography indicated the absence of a normal flow void in the left ICA. Endocrinological tests confirmed the GH deficiency (GH peak after growth-hormone-releasing hormone (GHRH) + arginine: 2.42 ng/mL) with a very low IGF-I value (31 ng/mL) and normal function of other pituitary axes.
To the best of our knowledge this is the first confirmed case of an isolated GH deficiency in a patient with ICA agenesis. The presence of an isolated pituitary deficit is unlike to be considered only as an effect of hemodynamic mechanism, suggesting a role for genetic factor(s) as a common cause of these two rare birth defects. Further studies could clarify this issue and the underlying mechanisms to better understand the etiopathogenetic characteristics of this disorder.
Additional file 1: CARE guidelines checklist of our Case Report. (DOCX 14 kb)12902_2015_37_MOESM1_ESM.docx
Lee JH, Oh CW, Lee SH, Han DH. Aplasia of the internal carotid artery. Acta Neurochir (Wien). 2003;145:117–25. CrossRef
Blustajn J, Netchine I, Frédy D, Bakouche P, Piekarski JD, Meder JF. Dysgenesis of the internal carotid artery associated with transsphenoidal encephalocele: a neural crest syndrome? AJNR Am J Neuroradiol. 1999;20:1154–7. PubMed
Lamine F, Kanoun F, Chihaoui M, Saveanu A, Menif E, Barlier A, et al. Unilateral agenesis of internal carotid artery associated with congenital combined pituitary hormone deficiency and pituitary stalk interruption without HESX1, LHX4 or OTX2 mutation: a case report. Pituitary. 2012;15 Suppl 1:S81–6. CrossRefPubMed
Tanaka R, Tokuda M, Shinakawa S, Okasora K, Suzuki S, Konishi K. A multiple pituitary hormone deficiency patient with anomaly of internal carotid artery, Proc 21st International Symposium on Growth Hormone and Growth Factors in Endocrinology and Metabolism, Venice. 1996.
Triulzi F, Scotti G, di Natale B, Pellini C, Lukezic M, Scognamiglio M, et al. Evidence of a congenital midline brain anomaly in pituitary dwarfs: a magnetic resonance imaging study in 101 patients. Pediatrics. 1994;93:409–16. PubMed
Greulich WW, Pyle SI. Radiographic Atlas of Skeletal Development of the Hand and Wrist. Stanford, CA: Stanford University Press; 1959.
Aimaretti G, Baffoni C, Bellone S, Di Vito L, Corneli G, Arvat E, et al. Retesting young adults with childhood-onset growth hormone (GH) deficiency with GH-releasing-hormone-plus-arginine test. J Clin Endocrinol Metab. 2000;85:3693–9. PubMed
Quint DJ, Boulos RS, Spera TD. Congenital absence of the cervical and petrous internal carotid artery with intercavernous anastomosis. AJNR Am J Neuroradiol. 1989;10:435–9. PubMed
Midkiff RB, Boykin MW, McFarland DR, Bauman JA. Agenesis of the internal carotid artery with intercavernous anastomosis. AJNR Am J Neuroradiol. 1995;16:1356–9. PubMed
Mayer PL, Leon Kier E. The ontogenetic and phylogenetic basis of cerebrovascular anomalies and variants. In: Apuzzo MLJ, editor. Brain Surgery: Complications, avoidance and management. 1st ed. New York: Churchill and Livingstone; 1993. p. 741–7.
Padget DH. The development of the cranial arteries in the human embryo. Contrib Embryol Carnegie Inst. 1948;32:205–61.
Chen S, Léger J, Garel C, Hassan M, Czernichow P. Growth hormone deficiency with ectopic neurohypophysis: anatomical variations and relationship between the visibility of the pituitary stalk asserted by magnetic resonance imaging and anterior pituitary function. J Clin Endocrinol Metab. 1999;84:2408–13. CrossRefPubMed
di Iorgi N, Secco A, Napoli F, Calandra E, Rossi A, Maghnie M. Developmental abnormalities of the posterior pituitary gland. Endocr Dev. 2009;14:83–94. PubMed
Stagi S, Lapi E, Pantaleo M, Traficante G, Giglio S, Seminara S, et al. A SOX3 (Xq26.3-27.3) duplication in a boy with growth hormone deficiency, ocular dyspraxia, and intellectual disability: a long-term follow-up and literature review. Hormones (Athens). 2014;13:552–60.
de Onis M, Onyango AW, Borghi E, Garza C, Yang H, WHO Multicentre Growth Reference Study Group. Comparison of the World Health Organization (WHO) Child Growth Standards and the National Center for Health Statistics/WHO international growth reference: implications for child health programmes. Public Health Nutr. 2006;9:942–7. PubMed
- Agenesis of internal carotid artery associated with isolated growth hormone deficiency: a case report and literature review
Maurizio de Martino
- BioMed Central
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