Presentation
Hormonal imbalance, epilepsy with growth retardation. The patient's lab investigations show panhypopituitarism.
Patient Data
MRI shows the posterior pituitary gland's ectopic location visible as a high signal nodule to the median eminence level in the sagittal and coronal T1 sequences. Hypoplastic adenohypophysis with an interrupted stalk.
Case Discussion
Pituitary stalk interruption syndrome needs MRI for the diagnosis and shows absent or hypoplastic anterior pituitary gland, thin or absent infundibulum, and ectopic posterior pituitary.
Exome targeted for panhypopituitaryism: finding of variant in chromosic position / genotype chr1: 180199740 c / t; gen lhx4 (mim # 602146) nm_033343.3 c.76 c> t p. (gln26 *) exon 1 nonsense heterozygous (51%) / 189x. dbsnp id -; predicted in silico np. categorization of the variant: probably pathogenetic.
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