Introduction: Septo-optic dysplasia (SOD) is a rare congenital heterogeneous malformation with postulated genetic and environmental etiology. Septo-optic dysplasia is characterized by classic triad: optic nerve hypoplasia, midline brain malformation and hypothalamic-pituitary endocrine deficiencies. The most common hormonal deficiencies affect growth hormone and gonadotropin but it can also be lower levels of the other hormones. The rarest form of hormone deficiency is the deficiency of the antidiuretic hormone. Case report: The boy was born in 39 th week of pregnancy in general good condition. Weakened suction reflex and spitting resulted in substantial difficulties with breastfeeding. After transfontanelle ultrasonography central nervous system defect was suspected. In the 5 th month of life MRI confirmed septo-optic dysplasia on the basis of anterior genu of corpus callosum and septum pellucidum agenesis, both optic nerves and optic chiasm hypoplasia, pachygyria and polimicrogyria of the right frontoparietal cortex. Neurological examination revealed axial laxity, psychomotor development delay, difficulties in keeping eyes fixed as well as rotary and horizontal nystagmus. At the age of 3 years he underwent the endocrinological consultation due to polydipsia and polyuria. The tests revealed lower urine specific gravity tests results, therefore diabetes insipidus was diagnosed. The boy still receives desmopressin and there are no signs of central diabetes insipidus. Currently, the boy is under a multi-disciplinary medical care. Conclusions: The attention should be focussed on early diagnosis, mutli-specialized care and treatment SOD. Hypopituitarism ranges from isolated to multiple hormone deficits, with diabetes insipidus in a minority. Although rare, SOD is an important cause of congenital hypopituitarism and should be considered in all children with midline defects and optic nerve hyploplasia. StreszczenieWstęp: Dysplazja przegrodowo-oczna (septo-optic dysplasia -SOD) jest rzadkim wrodzonym zaburzeniem z prawdopodobnym podłożem genetycznym i środowiskowym. Charakteryzuje się klasyczną triadą objawów: niedorozwojem nerwu ocznego, zaburzeniami rozwojowymi mózgu oraz niedoborami endokrynologicznymi pochodzenia podwzgórzowo-przysadkowego. Najczęściej spotykany jest niedobór hormonu wzrostu i gonadotropin, ale mogą występować także inne niedobory. Najrzadziej występuje niedobór hormonu antydiuretycznego. Opis przypadku: Chłopiec urodzony w 39. tygodniu ciąży w stanie ogólnym dobrym. Wystąpiły trudności w karmieniu piersią z powodu osłabionego odruchu ssania i połykania. Na podstawie badania ultrasonograficznego przezciemieniowego głowy wysnuto podejrzenia wad rozwojowych ośrodkowego układu nerwowego. Wykonane w 5. miesiącu życia badanie rezonansem magnetycznym potwierdziło SOD u podstawy przedniego rogu ciała modzelowatego, niedorozwój międzykomorowej, obustronnie nerwów wzrokowych, a także skrzyżowania, pachygyria, niedorozwój kory czołowo-skroniowej. W badaniu neurologicznym wykazano zwichnięcie osiowe, opóźniony...
Cardiorenal syndrome (CRS) is a complex, heterogeneous spectrum of symptoms that has kept cardiologists awake for decades. The heart failure (HF) population being burdened with multimorbidity poses diagnostic and therapeutic challenges even for experienced clinicians. Adding deteriorated renal function to the equation, which is one of the strongest predictors of adverse outcome, we measure ourselves against possibly the biggest problem in modern cardiology. With the rapid development of new renal assessment methods, we can treat CRS more effectively than ever. The presented review focuses on explaining the pathophysiology, recent advances and current practices of monitoring renal function in patients with acute CRS. Understanding the dynamic interaction between the heart and the kidney may improve patient care and support the selection of an effective and nephroprotective treatment strategy.
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