Central venous catheters in premature babies: radiological evaluation, malpositioning and complications

Central venous catheters are important in the care for prematurely born children in the neonatal intensive care unit. The purpose of this pictorial essay is to illustrate correct positioning, malpositioning and possible complications of such devices.     

Congenital aggressive variant of Langerhans cells histiocytosis with CD56+/E‐Cadherin− phenotype

In children <2 years of age, cutaneous involvement is the most frequent presentation of Langerhans cell histiocytosis (LCH). Cutaneous LCH can be localized or associated with dissemination and organ dysfunction. The clinical course is variable, ranging from spontaneous regression to a fatal outcome. We describe a female newborn presenting with congenital cutaneous lesions who rapidly developed pulmonary infiltrates and multiple osteolytic lesions. Skin biopsy showed a dermal infiltrate of medium to large cells morphologically and phenotypically consistent with LCH. The clinical course was rapidly fatal in spite of chemotherapy. No strict correlation between morphology and prognosis has been documented in LCH, but, in our case, distinct morphological and immunohistochemical features (CD56 expression and no E‐Cadherin expression) may have contributed to an aggressive clinical course. Pediatr Blood Cancer 2009;53:1107–1110. © 2009 Wiley‐Liss, Inc.     

Anuria due to bilateral cystine urolithiasis in an infant

A 10-month-old female presented with anuria due to bilateral cystine urolithiasis. Although bilateral obstruction of the ureters by calculi is very rare in children, it may be the presenting feature of cystinuria even in the first year of life.     

Thalamic hemorrhage in a 4-year-old child induced by nephro-vascular hypertension

A child affected by cardiomyopathy from the age of 12 months suddenly manifested right hemiparesis and dysarthria at the age of 48/12 years. Emergency brain CT showed a hemorrhage in progress in the left thalamic area. A severe form of hypertension was concomitant and resisted all pharmacological treatment. Retrograde transfemoral aortography pointed out an atrophy of the right renal artery. This finding, together with the high renin and aldosterone values, indicated a nephrogenic hypertension causing both the cardiomyopathy found at 12 months of age and the endocranial hemorrhage. Right nephrectomy led to normalization of blood pressure.     

Hypertrophic stenosis of the pylorus. Ultrasound and traditional diagnosis. Comparison of methods

Hypertrophic pyloric stenosis (HPS) is the most frequent cause of abdominal surgery during the first months of life. A new diagnostic approach to this type of pathology is given by ultrasound examination which offers the opportunity to perform a precise study of pyloric muscle thickness, pyloric diameter width and pyloric muscle length. Ultrasound provides a quick diagnostic tool sparing radiation exposure to the patient. X-ray study is only to be reserved to the few cases in which clinical and ultrasound data are doubtful and--in all instances--to rule-out other possible causes of gastric outlet obstruction. We report 20 infants (14 males and 6 females) referred with clinical suspicion of HPS. This diagnosis has been confirmed by ultrasound in 12 cases, suspected in 1 and excluded in 7 cases. Upper gastrointestinal tract series confirmed the presence of HPS in 13 cases; discovered a huge gastroesophageal reflux in one and showed normal findings in 6 cases.     

Neonatal mucolipidosis 2. The spontaneous evolution of early bone lesions and the effect of vitamin D treatment

Evolution of the early bone lesions in two children with mucolipidosis 2 was followed from birth. The progression of the bone changes did not differ from healing of rickets. Low levels of 1,25-(OH)₂-D3 were found in one child and he was treated with vitamin D; resolution of the rachitic changes was more rapid than in the untreated child. It is suggested that in mucolipidosis 2 bone reacts to two independent factors, one controlling calcium metabolism, the other depending on the primary lysosomal enzyme defect. Since ricket-like features are not present in the other mucolipidoses or mucopolysaccharidoses, the defect of calcium metabolism seems to be related to the specific enzyme defect of mucolipidosis 2.