Clinical evaluation of 31 children with pituitary insufficiency in the course of the pituitary stalk interruption syndrome. The unexpected growth without growth hormone in 2 children.

INTRODUCTION: The pituitary stalk interruption syndrome (PSIS) is one of the complex -forms of congenital pituitary insufficiency. Symptoms resulting from insufficiency of the pituitary gland, in spite of the inborn character of the disease, may appear at various stages of life. The aim of this paper was to present clinical presentation in 31 patients with PSIS confirmed radiologically. RESULTS: In the whole study population during first examination 25.8% children were diagnosed with combined pituitary hormone deficiency (CPHD). During the endocrinological observation (median follow-up 5.1 years, range 0.513.2) of the above-mentioned group 74.2% subjects were diagnosed with CPHD, while 25.8% patients with isolated growth hormone deficiency (GHD). Two children with initially short stature were confirmed with GHD. As a result of the parents' decision, growth hormone therapy was either not started or discontinued. During further follow-up, however, the children achieved normal height. CONCLUSIONS: Children with PSIS present a diverse clinical picture and should be observed because of the risk of further pituitary disorders. In the differential diagnosis of hypoglycemia in the neonatal period and in infancy, hypopituitarism should be considered. The phenomenon of normal growth in patients with confirmed growth hormone deficiency has been observed, although is not fully understood.

Bone markers in craniofacial bone deformations and dysplasias.

Various forms of bony deformations and dysplasias are often present in the facial skeleton. Bone defects can be either localized or general. Quite often they are not only present in the skull but also can be found in other parts of the skeleton. In many cases the presence and levels of specific bone markers should be measured in order to fully describe their activity and presence in the skeleton. Fibrous dysplasia (FD) is the most common one in the facial skeleton; however, other bone deformations regarding bone growth and activity can also be present. Every clinician should be aware of all common, rare and uncommon bony diseases and conditions such as cherubism, Paget's disease, osteogenesis imperfecta and others related to genetic conditions. We present standard (calcium, parathyroid hormone, calcitonin, alkaline phosphatase, vitamin D) and specialized bone markers (pyridinium, deoxypyridinium, hydroxyproline, RANKL/RANK/OPG pathway, growth hormone, insulin-like growth hormone-1) that can be used to evaluate, measure or describe the processes occurring in craniofacial bones.

[Intracardiac thrombi in pulmonary embolism of a priori non high risk: therapeutic dilemma]. / Skrzepliny wewnatrzsercowe w zatorowosci plucnej a priori niewysokiego ryzyka: dylematy terapeutyczne.

Pulmonary embolism (PE) of a priori non high risk according to ESC guidelines, but coexisting with intracardiac thrombi is potentially a life threatening disease. The recommendations regarding therapy in such situations are not clear. We report two cases of PE with coexisting intracardiac thrombi. The 74 year-old woman was admitted after previous cardiac arrest in the course of PE with the presence of intracardiac thrombi in right ventricle. Due to lack of clinical improvement during heparin administration she was treated with thrombolysis. The 72 year-old obese woman with hypertension, diabetes and previous stroke with right-sided paresis was admitted after 2 episodes of loss of consciousness, with intracardiac thrombus in both right and left heart. Due to contraindications to both surgery and thrombolysis, she was treated with heparin. Both women recovered successfully. These cases illustrate the importance of individual treatment strategy.