Magnetic resonance imaging of posterior pituitary for evaluation of the neurohypophyseal function in idiopathic and autosomal dominant neurohypophyseal diabetes insipidus

Özata, Metịn; Tayfun, Cem; Kurtaran, K.; Yetkin, İlhan; Beyhan, Zeynel; Çorakçı, Ahmet; Çağlayan, Suat; Alemdaroğlu, Alper; Gundogan, M. Ali

doi:10.1007/s003300050261

Cited by 23 publications

(14 citation statements)

References 16 publications

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“…Consistent with the results of Rutishauser et al [8] and others [25,26,27], all 3 investigated patients of the two families did not show the ‘bright spot’ in T 1 -weighted pituitary images. Signal intensity is discussed to correlate closely with posterior lobe function as it is suspected to result from neurovesicles in axon endings of AVP-producing neurons [8, 28].…”

Section: Discussionsupporting

confidence: 81%

Autosomal Dominant Neurohypophyseal Diabetes Insipidus in Two Families

Hedrich

Zachurzok²,

Gawlik³

et al. 2009

Horm Res Paediatr

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Background: Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is a rare disease with symptoms of polydipsia, polyuria and dehydration caused by arginine vasopressin deficiency. Disease onset is within infancy or adolescence. A variety of disease-causing mutations of the arginine vasopressin neurophysin II gene (AVP) on chromosome 20p13 have been described. Methods: Two Polish families with adFNDI were screened for mutations. Processing of wild-type (WT) and mutant AVP was monitored using immunocytochemical methods in stably transfected Neuro2A cells. AVP secretion into the cell culture supernatant was investigated with an enzyme immunoassay. Results: In the first family a heterozygous p.G96D mutation was identified. Some patients additionally carried a novel heterozygous mutation p.A159T. The second family presented with a heterozygous mutation p.C98G. Confocal laser microscopy unveiled accumulation of p.G96D and p.C98G prohormones in the cellular bodies, whereas WT and p.A159T prohormones and/or processed products were located in the tips of cellular processes. Reduced levels of AVP in supernatant culture medium of p.G96D and p.C98G transfected cells in comparison to p.A159T and WT cells were found. Conclusions: We conclude that the p.G96D and p.C98G mutations cause adFNDI in the two reported families. The sequence variant p.A159T does not seem to have disease-causing effects.

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Section: Discussionsupporting

confidence: 81%

Autosomal Dominant Neurohypophyseal Diabetes Insipidus in Two Families

Hedrich

Zachurzok²,

Gawlik³

et al. 2009

Horm Res Paediatr

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“…The signal returned from the posterior pituitary gland by T1-weighted MRI is related to its functional integrity [1] and loss of the normal posterior pituitary bright spot (PPS) is described in primary diabetes insipidus [2,3] and in water intoxication [4]; however, this absence of PPS has not yet been reported in children with TBM but occurs frequently in our clinical experience and may be related to the serum sodium and SIADH levels in these patients.…”

Section: Introductionmentioning

confidence: 85%

“…The signal can change (loss of the bright spot) in conditions where there is no ADH production, such as primary diabetes insipidus [2,3]. A transient reduction in posterior pituitary bright signal has also been described in a child with water intoxication [4].…”

Section: Mr Appearance Of the Pituitary Gland In Childrenmentioning

confidence: 95%

MR imaging of the posterior hypophysis in children with tuberculous meningitis

2009

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The syndrome of inappropriate antidiuretic hormone secretion (SIADH) contributes to the morbidity and mortality in children with tuberculous meningitis (TBM). MRI assists in the early diagnosis of TBM and absence of the normal posterior pituitary bright spot (PPS) on T1-weighted MRI in TBM may indicate the functional integrity of the posterior hypophysis. The objective of this retrospective descriptive study of 22 children with TBM was to determine the prevalence of an absent PPS on T1-weighted MRI in children with TBM and its correlation with serum sodium levels (hyponatremia), severity of disease at presentation, and developmental outcome after 6 months. The prevalence of absent PPS in children with TBM was 55%. No significant correlation was found between the PPS and serum sodium status (p = 0.41) or severity of disease at presentation (p = 0.104). There was however a correlation between absent PPS and poorer developmental outcome at 6-month follow-up (p = 0.027).

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“…The accumulation of this preprohormone might account for the persistentposterior pituitary bright spot and for the variable appearance of MRI scans of members of the same family [40, 43, 44]. It has been suggested that these patients are able to store small amounts of AVP, but cannot release it normally [45]. …”

Section: Posterior Pituitary Deficiencymentioning

confidence: 99%

Contribution of Magnetic Resonance Imaging in Non-Tumoral Hypopituitarism in Children

Garel¹,

Léger

2006

Horm Res Paediatr

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Background: Magnetic resonance imaging (MRI) is of paramount importance for evaluating the hypothalamo-pituitary axis in children. Methods: We summarize the main points of the MRI technique, and describe the normal appearance of the hypothalamo-pituitary axis as a function of age and pubertal status. The most frequent causes of non-tumoral hypopituitarism include anterior pituitary deficiency (growth hormone deficiency may be isolated or associated with other anterior pituitary hormone deficiencies, with or without other malformations, and related to a known genetic abnormality in some cases), isolated hypogonadotropic hypogonadism and posterior pituitary deficiency with or without anterior pituitary hormone deficiency (central diabetes insipidus may be observed without tumor development). Results: We describe in detail the appearance of the adenohypophysis, the pituitary stalk and the neurohypophysis, correlations with hormone deficiencies, the abnormalities that may be associated and progression over time for each condition. Conclusion: An accurate description of hypothalamo-pituitary axis abnormalities is necessary for accurate diagnosis and prognosis evaluation, with certain features suggestive of particular diseases and some prognostic data correlated with phenotype.

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Magnetic resonance imaging of posterior pituitary for evaluation of the neurohypophyseal function in idiopathic and autosomal dominant neurohypophyseal diabetes insipidus

Cited by 23 publications

References 16 publications

Autosomal Dominant Neurohypophyseal Diabetes Insipidus in Two Families

Autosomal Dominant Neurohypophyseal Diabetes Insipidus in Two Families

MR imaging of the posterior hypophysis in children with tuberculous meningitis

Contribution of Magnetic Resonance Imaging in Non-Tumoral Hypopituitarism in Children

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