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Introduction Lysinuric protein intolerance (LPI) is a form of inherited aminoaciduria caused by a deficiency in the cationic amino acid transport process on the basolateral membrane of enterocytes and renal tubular cells. Clinical signs include gastrointestinal symptoms, failure to thrive, hepatosplenomegaly, osteoporosis, episodes of coma, intellectual deficiency, lung and renal involvement, bone marrow abnormalities, as well as altered immune response. Moyamoya disease is a cerebrovascular disorder predisposing sufferers to stroke through progressive stenosis of the intracranial internal carotid arteries and their proximal branches. Patients with characteristic moyamoya vasculopathy who also exhibit well-recognized associated conditions, such as Down syndrome or sickle-cell disease, are diagnosed with moyamoya syndrome, whereas those with no known associated risk factors are said to suffer from moyamoya disease. Case study A 5-year-old girl exhibiting aversion to protein-rich food and splenomegaly presented with a history of recurrent ischemic strokes. Cerebral angiography confirmed moyamoya vasculopathy. Metabolic investigation revealed abnormalities characteristic of LPI. This diagnosis was confirmed by the detection of a mutation within the SLC7A7 gene upon molecular investigation. Conclusion To the best of our knowledge, this is the first reported case of an association between moyamoya vasculopathy and LPI. While the question of association or coincidence cannot yet be answered, several pathophysiological consequences of LPI can be defined as separate, such as links between the impact of low arginine levels on the function of vascular endothelium and brain nitric oxide metabolism, as well as hemophagocytic syndrome associated with the risk of vasculitis, thus accounting for the development of moyamoya vasculopathy. [ABSTRACT FROM AUTHOR]

Objective: The objective of this study was to evaluate the performance of ultrasound in detecting lung consolidation in children suspected of pneumonia, in comparison to the current gold standard, chest X-rays.Materials and Methods: From September 2013 to June 2014, a monocentric prospective study was performed on all children between 0 and 16 years-old, referred for chest X-ray for suspected pneumonia. Each child was examined by chest ultrasound by an examiner blinded to the chest X-ray. The presence or absence of areas of consolidation, their number and location were noted for each technique. The size of the consolidations identified only on ultrasound was compared with that of consolidations visible on both techniques.Results: 143 children (mean age 3 years; limits between 8days and 14 years) were included. Ultrasound detected at least one area of consolidation in 44 out of 45 patients with positive X-rays. Of the 59 areas of consolidation on X-ray, ultrasound identified 54. In the 8 patients with negative X-ray, ultrasound revealed 17 areas of consolidation. The mean size of consolidations visible only on ultrasound was 9.4mm; for consolidations visible on both techniques the mean size was 26mm (p<0.0001). The sensitivity and specificity of ultrasound were calculated at 98% and 92%. PPV and NPV were 85% and 99%, respectively.Conclusion: Chest ultrasound is a fast, non-ionizing and feasible technique. With its high negative predictive value, it can replace X-rays in order to exclude lung consolidation in children, thus reducing radiation exposure in this population. [ABSTRACT FROM AUTHOR]

Poretti-Boltshauser syndrome (PTBHS) is an autosomal recessive disorder characterized by cerebellar dysplasia with cysts and an abnormal shape of the fourth ventricle on neuroimaging, due to pathogenic variants in the LAMA1 gene. The clinical spectrum mainly consists of neurological and ophthalmological manifestations, including non-progressive cerebellar ataxia, oculomotor apraxia, language impairment, intellectual disability, high myopia, abnormal eye movements and retinal dystrophy. We report a patient presenting with ventriculomegaly on antenatal neuroimaging and a neonatal diagnosis of Type III esophageal atresia. She subsequently developed severe myopia and strabismus with retinal dystrophy, mild developmental delay, and cerebellar dysplasia. Genetic investigations confirmed PTBHS. This report confirms previous reports of antenatal ventriculomegaly in PTBHS patients and documents a so far unreported occurrence of esophageal atresia in PTBHS. We additionally gathered phenotype and genotype descriptions of published cases in an effort to better define the spectrum of PTBHS. [ABSTRACT FROM AUTHOR]