A rare case of bladder diverticulosis.

The incidence of bladder diverticula in the pediatric population is unknown as they are often asymptomatic. A minority of cases are a manifestation of a genetic syndrome. Primary diverticula have different features compared to secondary diverticula, which are generally caused by an obstructive or iatrogenic mechanism. This clinical case deals with a rare neonatal finding of bladder diverticulosis with alteration of the bladder, first detected with ultrasound. Voiding cystography and magnetic resonance allowed us to delineate their heterogeneity in size, their distribution in the bladder and to rule out other malformations of the urinary tract. The features of these diverticula focused the diagnosis of cutis laxa syndrome, a rare disease where bladder diverticulosis is only one sign of a more complex disease.

Recurrent Bleedings in Newborn: A Factor VII Deficiency Case Report.

Background: Major hemorrhages in newborns can be caused by several conditions, and knowledge of the differential diagnosis is essential in order to ensure prompt recognition and appropriate treatment. Case Report: We describe the case of a male newborn experiencing recurrent hemorrhages from the first days of life. Laboratory findings showed normal platelet count, hepatic function, and C-reactive protein. Coagulation tests detected an isolated prothrombin time (PT) prolongation and severe factor VII (FVII) deficiency. Conclusion: Inherited FVII deficiency is a rare autosomal recessive bleeding disorder. Clinical presentation is heterogeneous, and bleeding severity is not directly related to FVII levels. Acute bleeding episodes can be treated with human plasma-derived FVII (pdFVII) or recombinant activated FVII (rFVIIa). In case of severe deficiency, prophylaxis must be evaluated. Awareness of this condition is crucial in order to establish prompt diagnosis and treatment.

Ultrasound follow-up of an unusual giant urinoma in a newborn.

Urinoma, defined as an encapsulation of urine caused by urine extravasation into the perirenal space either through rupture of a calyceal fornix or a tear in the renal parenchyma, is an uncommon finding in prenatal diagnosis and the neonatal period. Urinoma can be associated with any urinary tract obstruction, or, as reported in several published cases, related to vesicoureteral reflux, kidney dysplasia, or complication arising during amniocentesis. We report on a newborn with a perinatal urinoma, with initial slight corpusculated fluid associated with nonobstructive and nonrefluxing megaureter, and no signs of kidney dysplasia. Close sonography follow-up of the urinoma allowed complex differential diagnoses, including cystic, septated, and solid perirenal masses, due to dissimilar and peculiar ultrasound images during urinoma evolution stages.

A case of neonatal Jeune syndrome expanding the phenotype.

KEY CLINICAL MESSAGE: We report the case of a premature, very low birth weight, newborn with stigmata of Jeune syndrome, a rare skeletal dysplasia, and marked renal involvement (i.e. remarkable prenatal oligohydramnios, histologic nephronophthisis-like pattern, macroscopic renal cysts, and renal failure), expanding the phenotype consistent with the continuum of syndromic ciliopathies.

New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion.

OBJECTIVE: Canavan disease (OMIM 271900) is a severe autosomal recessive neurodegenerative disorder characterized by spongy degeneration of the brain and caused by mutations in the gene encoding for aspartoacylase (ASPA). The enzyme is responsible for the catalyses of the brain-specific compound N-acetylaspartate (NAA). DESIGN AND METHODS: We report the case of two Egyptian sibling patients suspected of Canavan disease (CD) showing clinical deterioration, white matter degeneration, megalencephaly and severe intellectual impairment. The patients underwent magnetic resonance imaging (MRI) and biochemical analysis of NAA in biological fluid samples (serum and urine). Subsequently, in order to determine the mutation responsible for CD in these two sibs, a molecular biological examination was performed. RESULTS: MRI findings and quantification of high NAA excretion (1378.5 and 680.1µmolNAA/mmolcreatinine in urine of 4months and 4years old patients, respectively) confirmed the diagnosis of CD and prompted a search for the responsible mutation. The molecular biological analysis revealed homozygosity for the substitution T530C (Ile177Thr) in the exon 4 of the ASPA gene in both sibs. A total loss of enzymatic activity was also recorded. CONCLUSIONS: The substitution T530C (Ile177Thr) results in a novel missense mutation causing a CD phenotype with severe clinical characteristics. This mutation was not previously described in the literature. In these two sibs, urinary concentration of NAA appears to correlate inversely to symptom severity and CD progression.

Effects of inositol supplementation in a cohort of mothers at risk of producing an NTD pregnancy.

Neural tube defects (NTDs), most commonly spina bifida and anencephaly, can be prevented with periconceptional intake of folic acid in about 70% of cases. Recurrence of NTDs despite supplementation of high dose of folic acid further suggests that a proportion of NTD cases might be resistant to folic acid. Moreover, heterogeneity of NTDs has been suggested in animal studies, indicating that only some sub-type of NTDs should be considered sensitive to folate intake. Inositol isomers (particularly myo- and chiro-inositol) can prevent folate-resistant NTDs in the curly-tail mutant mouse, suggesting that some cases of human NTDs might benefit from inositol supplementation. In humans, lower inositol blood concentration was found in pregnant women carrying NTD fetuses, whereas a periconceptional combination therapy with folic acid associated with inositol has been linked to normal live births, despite high NTD recurrence risk. Fifteen pregnancies from 12 Caucasian women from different parts of Italy with at least one previous NTD-affected pregnancy underwent periconceptional combined myo-inositol and folic acid supplementation. Maternal serum α-feto-protein levels were found in the normal range, and normal results on ultrasound examination were found in all the pregnancies that followed. No collateral effects or intense uterine contractions were demonstrated in this pilot study in any of the pregnancies after inositol supplementation, and seventeen babies were born without any type of NTD.

Subependymal periventricular heterotopias in a patient with ehlers-danlos syndrome: a new case.

Ehlers-Danlos syndrome is a complex hereditary connective tissue disorder that is characterized by abnormalities of the skin and joints and visceral and neurological manifestations. At present, at least 11 forms are recognized on the basis of their clinical characteristics, methods of transmission, and biochemical defect. The neurologic manifestations include cerebrovascular disease, peripheral neuropathy, plexopathy, periventricular subependymal heterotopias, and epilepsy. Previously, 2 females were reported to be affected with subependimal periventricular heterotopias and Ehlers-Danlos syndrome type 1. The authors report a new case of a 12-year-old girl with similar clinical and neuroradiological features.

Lower gastrointestinal bleeding in a newborn caused by isolated intestinal vascular malformation.

We report a 3-week-old neonate with an intestinal vascular malformation. The usual investigations performed for the examination of lower gastrointestinal bleeding had negative results, but ultrasound revealed bowel loops of abnormal calibre and altered flow in the superior mesenteric artery. Ultrasound should be considered a diagnostic study of primary importance when assessing a neonate with gastrointestinal bleeding.