Agenesis of Internal Carotid Artery and Hypopituitarism: Case Report and Review of Literature (original) (raw)
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Congenital hypopituitarism: clinical, molecular and neuroradiological correlates
Clinical Endocrinology, 2009
Objective Recent studies have suggested that mutations in genes encoding several hypothalamo-pituitary (H-P) transcription factors result in hypopituitarism [isolated GH deficiency (IGHD) and combined pituitary hormone deficiency (CPHD)], which may in turn be related to the neuroanatomy revealed by magnetic resonance (MR) imaging. Although studies have focused on patients with either optic nerve hypoplasia (ONH) or isolated hypopituitarism with normal optic nerves, few studies have compared the two groups. We aimed to relate the clinical phenotype of a large cohort (n = 170) of children with congenital hypopituitarism including septo-optic dysplasia (SOD) attending a single centre to the neuroradiological and genetic findings. Design Clinical, biochemical, MR imaging and molecular data were analysed retrospectively in 170 patients with or 'at-risk' (with ONH) of hypopituitarism to determine predictors of hypopituitarism.
Diagnostic pitfalls in the assessment of congenital hypopituitarism
Journal of Endocrinological Investigation, 2014
Background The diagnosis of congenital hypopituitarism is difficult and often delayed because its symptoms are nonspecific. Aim To describe the different clinical presentations of children with congenital hypopituitarism to reduce the time for diagnosis and to begin a precocious and appropriate treatment. Study design We analyzed a cohort of five children with congenital hypopituitarism, describing their clinical, biochemical and radiological characteristics from the birth to diagnosis. Results As first sign of the disease, all of five patients presented a neonatal hypoglycemia, associated in four cases with jaundice. In all these four cases, the clinicians hypothesized a metabolic disease delaying the diagnosis, which was performed in only two cases within the neonatal period. In the other three cases, the diagnosis was formulated at 2, 5 and 8 years of life because there was severe and precocious growth impairment. Conclusions It is important to suspect congenital hypopituitarism in the presence of persistent neonatal hypoglycemia associated with jaundice and of a precocious and severe reduction of the growth velocity in childhood. In all these cases, it is necessary to undertake a hypothalamicpituitary magnetic resonance imaging scan as soon as possible, and to start appropriate treatment.
European Journal of Endocrinology, 1998
In this study, perinatal history, postnatal auxological and clinical evolution and endocrine features were retrospectively evaluated in 49 children, adolescents and young adults with apparently idiopathic hypopituitarism. They were divided into two groups according to magnetic resonance images: 32 patients with isolated pituitary hypoplasia (group A) and 17 with pituitary stalk interruption syndrome (group B). The aim of the study was to assess whether these neuroradiological pictures are associated with specific endocrine and clinical patterns. No significant difference in terms of gestational age, intrauterine growth and rates of adverse perinatal events was found between the two groups. Clinical signs documenting the existence of pituitary dysfunction in utero or shortly after birth were either slightly (micropenis, cryptorchidism, cholestatic jaundice) or significantly (hypoglycemia) more frequent in patients in group B. Although diagnosis of hypopituitarism was made significantly earlier in patients in group B, height deficiency at diagnosis was similar in both groups. Endocrine investigations revealed a more severe and widespread impairment of pituitary function among those in group B. The main conclusion is that the postnatal clinical course is more severe when growth hormone deficiency is associated with pituitary stalk interruption syndrome than when the pituitary is only reduced in height, probably because of the more severe and widespread impairment of pituitary function in the former cases.
Journal of Radiology Case Reports, 2017
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.
Bilateral hypoplasia of the internal carotid artery
Indian Journal of Radiology and Imaging, 2011
Agenesis and hypoplasia of the internal carotid artery (ICA) are rare congenital anomalies, occurring in less than 0.01% of the population. We report a rare case of bilateral hypoplasia of the ICA in a patient with post-traumatic subarachnoid hemorrhage. We describe the embryological development of the cerebral vasculature and present a review of literature.
Congenital absence or hypoplasia of the carotid artery: Radioclinical issues
American Journal of Otolaryngology, 2004
Purpose: Congenital anomaly of the carotid artery is a rare abnormality. It is usually discovered incidentally by color Doppler carotid sonography, angiography, computed tomography (CT), or magnetic resonance imaging (MRI) of the head and neck taken for some other reason. Most patients are not symptomatic because of sufficient cerebral circulation supplied to the defective area by the communicating arteries of the circle of Willis, intercavernous anastomosis, communicating arteries from external carotid artery, and by persistent embryologic arteries to the carotid artery territory. However, sometimes, this anatomic variation may eventually lead to some clinical signs and symptoms in particular circumstances in the head and neck of which surgeons are unaware. A retrospective study was designed to emphasize the characteristic radiologic and clinical picture in patients with the congenital absence (agenesis and aplasia) or hypoplasia of the carotid artery, to delineate the associated abnormalities and existing collateral vessels, and to find out its incidence. Material and Methods: Five thousand one hundred cerebral MRI and/or catheter angiograms performed between February 1988 and March 2002 were reviewed for carotid artery abnormality. Results: Seven patients with congenital absence or hypoplasia (4 of these patients were presented with hypoplasia of internal carotid artery [ICA], 3 with absence of ICA) of ICA were identified (0.13%). The radiologic and clinical study of 5 patients with unilateral (3 of these patients were presented with hypoplasia and 2 with absence of ICA) and 2 patients with bilateral (1 was presented with absence of ICA, whereas the other was hypoplasia) congenital abnormality with absence or hypoplasia of ICA demonstrate that those patients are usually asymptomatic and they are diagnosed incidentally. Conclusion: It has been concluded that the combined use of magnetic resonance angiography and CT scanning of the skull base may disclose small but patent ICA. Collateral vessels seem to be usual in such cases, but they may be prominent in cases of acquired vascular occlusion, or increased hemodynamic pressure in dysplastic changes in collateral arteries are known causes of aneurysms. The main vascular supply for the brain in patients with congenitally small (hypoplasia) or absent (agenesis or aplasia) ICA is the vertebrobasilar system in bilateral cases. However, contralateral carotid vessel is the dominant arterial supply for unilateral cases, which has to be borne in mind in surgical interventions to the involved side. (Am J Otolaryngol 2004;25:339-349.
Pituitary apoplexy as a cause of internal carotid artery occlusion
Journal of Clinical Neuroscience, 2008
Occlusion of intracranial arteries by pituitary apoplexy with resulting infarction is a rare occurrence. A 50-year-old man who presented with a history of sudden onset of frontal headache and visual impairment was admitted to another medical centre and MRI revealed a non-enhancing sellar lesion with suprasellar and infrasellar extension. Thereafter, the patient's consciousness deteriorated progressively and he showed signs of herniation; he was then referred to our centre for further evaluation. CT scanning revealed infarction of the left internal carotid artery territory. Transcranial resection of the tumour followed by a large decompressive craniotomy restored the blood flow in the internal carotid artery. Histological examination revealed the tumour to be a pituitary adenoma that contained formed blood elements. The patient's neurological status did not improve and he died on the ninth postoperative day despite vigorous treatment for controlling intracranial pressure. This case study documents a rare presentation of pituitary apoplexy that caused signs of raised intracranial pressure due to mechanical obstruction of an internal carotid artery with resulting infarction.
Journal of clinical imaging science, 2017
Ectopic neurohypophysis (EN) refers to an interrupted, nonvisualized, and thinned out pituitary stalk with ectopic location of the posterior pituitary gland. Concurrent extra-pituitary cerebral and extra-cranial anomalies have been rarely reported in patients of EN. The aim of this study was to evaluate the magnetic resonance imaging (MRI) findings of extra-pituitary cerebral anomalies in pediatric patients of EN. A hospital-based cross-sectional study was conducted in a tertiary care center. The study group comprised eight pediatric patients of EN associated with extra-pituitary cerebral or vascular anomalies. Clinical and biochemical assessment was done in all patients. Out of the total eight patients with EN, MRI showed interrupted pituitary stalk in five patients (62.5%) and nonvisible pituitary stalk in three patients (37.5%). Ectopic posterior pituitary bright spot was demonstrated in median eminence in six patients (75%), faintly visualized in one patient (12.5%) and nonvisua...