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Page 1
Brain MR Imaging Findings in Woodhouse-Sakati Syndrome.
Abusrair AH, Bohlega S, Al-Semari A, Al-Ajlan FS, Al-Ahmadi K, Mohamed B, AlDakheel A. Abusrair AH, et al. AJNR Am J Neuroradiol. 2018 Dec;39(12):2256-2262. doi: 10.3174/ajnr.A5879. Epub 2018 Nov 8. AJNR Am J Neuroradiol. 2018. PMID: 30409855 Free PMC article.
RESULTS: All patients had abnormal MR imaging findings. The most common abnormalities were a small pituitary gland (76.9%), pronounced basal ganglia iron deposition (73%), and white matter lesions in 69.2%. ...Older age was associated with a more severe degre …
RESULTS: All patients had abnormal MR imaging findings. The most common abnormalities were a small pituitary gland (76. …
A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy.
Yang H, Wu Z, Li X, Huang Y, Li J, He F, Feng L, Xiao B, Tang W. Yang H, et al. Neurol Sci. 2023 Sep;44(9):3363-3368. doi: 10.1007/s10072-023-06767-z. Epub 2023 Mar 29. Neurol Sci. 2023. PMID: 36988728
She revealed clumsy movements when examined for ataxia, with an SARA score of 9. FINDINGS: The laboratory data revealed a decreased level of estradiol, FSH, and LH, with a MoCA score of 7. ...Brain MRI showed bilateral cerebral hemisphere myelin dysplasia, brain atr …
She revealed clumsy movements when examined for ataxia, with an SARA score of 9. FINDINGS: The laboratory data revealed a decreased l …
Whole exome sequencing and transcript analysis discover a novel pathogenic splice site mutation in DCAF17 gene underlying Woodhouse-Sakati syndrome.
Kumari R, Holla VV, Phulpagar P, Sriram N, Hegde AG, Vengalil S, Kamble N, Saini J, Yadav R, Pal PK, Muthusamy B. Kumari R, et al. J Neuroendocrinol. 2022 Oct;34(10):e13185. doi: 10.1111/jne.13185. Epub 2022 Jul 25. J Neuroendocrinol. 2022. PMID: 35876063
It is characterized by hypogonadism, alopecia, diabetes mellitus, intellectual disability and progressive extrapyramidal syndrome along with radiological features of small pituitary gland, progressive frontoparietal white matter changes and abnormal accumulat …
It is characterized by hypogonadism, alopecia, diabetes mellitus, intellectual disability and progressive extrapyramidal syndrome along with …
MR imaging of the pituitary gland in infants and children: changes in size, shape, and MR signal with growth and development.
Tien RD, Kucharczyk J, Bessette J, Middleton M. Tien RD, et al. AJR Am J Roentgenol. 1992 May;158(5):1151-4. doi: 10.2214/ajr.158.5.1566682. AJR Am J Roentgenol. 1992. PMID: 1566682
It has been reported that on MR images of the brain in neonates the entire pituitary gland is hyperintense. This is quite different from the well-established observation that portion is isointense. To better understand the development of the neonatal pituitary gland, we st …
It has been reported that on MR images of the brain in neonates the entire pituitary gland is hyperintense. This is quite different from the …
Pituitary magnetic resonance imaging in 15 patients with Prop1 gene mutations: pituitary enlargement may originate from the intermediate lobe.
Voutetakis A, Argyropoulou M, Sertedaki A, Livadas S, Xekouki P, Maniati-Christidi M, Bossis I, Thalassinos N, Patronas N, Dacou-Voutetakis C. Voutetakis A, et al. J Clin Endocrinol Metab. 2004 May;89(5):2200-6. doi: 10.1210/jc.2003-031765. J Clin Endocrinol Metab. 2004. PMID: 15126542
Pituitary morphology in patients with Prop1 gene mutations varies. Most patients demonstrate a normal or small pituitary gland. Occasionally, pituitary enlargement of undetermined origin has also been detected. ...Spontaneous regression of the mass lesion wit …
Pituitary morphology in patients with Prop1 gene mutations varies. Most patients demonstrate a normal or small pituitary gl …
Pituitary size fluctuation in long-term MR studies of PROP1 deficient patients: A persistent pathophysiological mechanism?
Voutetakis A, Sertedaki A, Livadas S, Xekouki P, Bossis I, Dacou-Voutetakis C, Argyropoulou MI. Voutetakis A, et al. J Endocrinol Invest. 2006 May;29(5):462-6. doi: 10.1007/BF03344131. J Endocrinol Invest. 2006. PMID: 16794371
Patient A had enlarged pituitary gland (pituitary height: 9-10 mm), demonstrated by serial MRI carried out from age 5 to 8.5 yr, small pituitary gland (4 mm) at age 10 yr and pituitary enlargement (11 mm) at age 19 yr. ...It must be noted that current data fr …
Patient A had enlarged pituitary gland (pituitary height: 9-10 mm), demonstrated by serial MRI carried out from age 5 to 8.5 yr, small …
Growth hormone (GH) deficiency (GHD) of childhood onset: reassessment of GH status and evaluation of the predictive criteria for permanent GHD in young adults.
Maghnie M, Strigazzi C, Tinelli C, Autelli M, Cisternino M, Loche S, Severi F. Maghnie M, et al. J Clin Endocrinol Metab. 1999 Apr;84(4):1324-8. doi: 10.1210/jcem.84.4.5614. J Clin Endocrinol Metab. 1999. PMID: 10199773
The patients were subdivided into 4 groups according to their first pituitary magnetic resonance imaging (MRI) findings: group I, 11 patients with isolated GHD (IGHD) and normal pituitary volume (280 +/- 59.4 mm3); group II, 7 patients with IGHD and small pituitary …
The patients were subdivided into 4 groups according to their first pituitary magnetic resonance imaging (MRI) findings: group I, 11 patient …
A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype.
Pasca L, Politano D, Cavallini A, Panzeri E, Vigone MC, Baldoli C, Abbate M, Kullmann G, Marelli S, Pozzobon G, Vincenzi G, Nacinovich R, Bassi MT, Romaniello R. Pasca L, et al. Neuropediatrics. 2024 Jun;55(3):191-195. doi: 10.1055/a-2114-4387. Epub 2023 Jun 21. Neuropediatrics. 2024. PMID: 37343586
The neuroradiological examination showed partial segmental agenesis of the corpus callosum, agenesis of the septum pellucidum, optic nerve hypoplasia, and a small pituitary gland with a small median pituitary stalk. A whole-exome sequencing analysis detected …
The neuroradiological examination showed partial segmental agenesis of the corpus callosum, agenesis of the septum pellucidum, optic nerve h …