Congenital syphilis presenting with liver lesions.

Congenital syphilis is a prevalent infection in much of the world but rare in contexts where antenatal screening and treatment are available. In the UK in 2016, three cases of congenital syphilis were reported in babies born to women who were seronegative at the time of booking and hence a high degree of clinical vigilance is required in the unwell infant. We present the case of a seven-week-old baby girl with congenital syphilis with the unusual finding of discrete liver lesions. This baby was successfully treated with intravenous ceftriaxone.

Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.

We report the case of a male patient with Larsen syndrome found to be mosaic for a novel point mutation in FLNB in whom it was possible to provide evidence-based personalized counseling on transmission risk to future offspring. Using dideoxy sequencing, a low-level FLNB c.698A>G, encoding p.(Tyr233Cys) mutation was detected in buccal mucosa and fibroblast DNA. Mutation quantification was performed by deep next-generation sequencing (NGS) of DNA extracted from three somatic tissues (blood, fibroblasts, saliva) and a sperm sample. The mutation was detectable in all tissues tested, at levels ranging from 7% to 10% (mutation present in ∼20% of diploid somatic cells and 7% of haploid sperm), demonstrating the involvement of both somatic and gonadal lineages in this patient. This report illustrates the clinical utility of performing targeted NGS analysis on sperm from males with a mosaic condition in order to provide personalized transmission risk and offer evidence-based counseling on reproductive safety.

Further defining the phenotypic spectrum of B4GALT7 mutations.

Proteoglycans are components of the extracellular matrix with diverse biological functions. Defects in proteoglycan synthesis have been linked to several human diseases with common features of short stature, hypermobility, joint dislocations, and skeletal dysplasia. B4GALT7 encodes galactosyltransferase-I that catalyzes the addition of a galactose moiety to a xylosyl group in the tetrasaccharide linker of proteoglycans. Mutations in this gene have been associated with the rare progeroid form of Ehlers Danlos syndrome and in addition more recently found to underlie Larsen of Reunion Island syndrome. Nine individuals have been reported with a diagnosis of the progeroid form of Ehlers Danlos syndrome, four of whom have had molecular characterization showing homozygous or compound heterozygous mutations in B4GALT7. We report two newly described patients with compound heterozygous mutations in B4GALT7, and show that the six individuals with confirmed mutations do not have the progeroid features described in the original five patients with a clinical diagnosis of the progeroid form of Ehlers Danlos syndrome. We suggest that galactosyltransferase-I deficiency does not cause the progeroid form of Ehlers Danlos syndrome, but instead results in a clinically recognizable syndrome comprising short stature, joint hypermobility, radioulnar synostosis, and severe hypermetropia. This group of syndromic patients are on a phenotypic spectrum with individuals who have Larsen of Reunion Island syndrome, although the key features of osteopenia, fractures and hypermetropia have not been reported in patients from Reunion Island. © 2016 Wiley Periodicals, Inc.

Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199-214 cluster in the skeletal features of the condition.

Submicroscopic deletions within chromosome 1q24q25 are associated with a syndromic phenotype of short stature, brachydactyly, learning difficulties, and facial dysmorphism. The critical region for the deletion phenotype has previously been narrowed to a 1.9 Mb segment containing 13 genes. We describe two further patients with 1q24 microdeletions and the skeletal phenotype, the first of whom has normal intellect, whereas the second has only mild learning impairment. The deletion in the first patient is very small and further narrows the critical interval for the striking skeletal aspects of this condition to a region containing only Dynamin 3 (DNM3) and two microRNAs that are harbored within intron 14 of this gene: miR199 and miR214. Mouse studies raise the possibility that these microRNAs may be implicated in the short stature and skeletal abnormalities of this microdeletion condition. The deletion in the second patient spans the previously reported critical region and indicates that the cognitive impairment may not always be as severe as previous reports suggest.

Fracture through the apex of a delta tibia (minor tibial duplication) following minor injury.

Delta tibia (also known as minor tibial duplication) is a rare variant of congenital anterolateral tibial bowing. It is not associated with neurofibromatosis or pseudarthrosis in which there are characteristic changes on the lateral radiograph. This deformity is not thought to be prone to fracture. We describe a child with this deformity, who during a 4-year period sustained two separate fractures following relatively minor trauma. In both circumstances, the injury healed well with no evidence of pseudarthrosis formation.

Will the implementation of the 2007 National Institute for Health and Clinical Excellence (NICE) guidelines on childhood urinary tract infection (UTI) in the UK miss significant urinary tract pathology?

OBJECTIVE: • To investigate whether the implementation of the August 2007 National Institute for Health and Clinical Excellence (NICE) guidelines would miss significant urinary tract pathology in children with urinary tract infection (UTI). PATIENTS AND METHODS: • All ultrasound (US) performed in children aged >6 months, during the year 1 August 2006 to 31 July 2007 for UTI, were retrospectively studied. • Each US scan in the study population of 346 was categorised dependent on whether it was appropriate or inappropriate to have been performed under the new guidelines and whether the US scan was normal or abnormal. • The records of each patient with an inappropriate abnormal US scan were re-analysed to see if patient management was affected by the US scan. • In 2011 patients with an original inappropriate abnormal US scan were re-evaluated to identify if any had presented with further urinary pathology. RESULTS: • In accordance with the NICE guidelines patients were divided by age. • Children aged 0.5-3 years: 78/95 (82%) US scans were inappropriate of which 12 (15%) were abnormal and four of these had a further documented UTI. After careful assessment of the US abnormalities it was judged that only one would have benefited from the initial US scan. • Children aged >3 years: 146/251 (58%) US scans were inappropriate of which 21(14%) were abnormal and six of these (29%) had a further documented UTI. After careful assessment of the US abnormalities it was judged that only three of 21 (14%) would have benefited from the initial US scan. CONCLUSIONS: • The vast majority of anomalies detected on the inappropriate US scans were of little clinical significance. • It is difficult to identify any patient who would have been truly disadvantaged if the US scan had not been performed after the initial UTI. • The NICE guidelines are safe to follow.

Bilateral acromial fractures in a neonate with epileptic encephalopathy.

We present a case of a newborn male with seizures who on subsequent radiographs was shown to have bilateral acromial fractures. These are uncommon fractures and are described in association with nonaccidental injury (NAI). However, in this case NAI was thought unlikely due to continuous hospitalisation of the boy. The possible aetiologies are discussed.

Sonographic evaluation of inflammatory bowel disease: a prospective, blinded, comparative study.

BACKGROUND: Children with inflammatory bowel disease (IBD) undergo invasive and repeated investigations, including contrast radiology and endoscopy. OBJECTIVE: To assess transabdominal sonography of the colon and distal ileum compared to colonoscopy and barium radiology in known or suspected IBD. MATERIALS AND METHODS: A prospectively recruited cohort of 44 children (median age 12 years, range 3.5-16.5 years; 24 males) underwent transabdominal sonography prior to colonoscopy (n=33) or barium follow-through (n=25). Diagnoses were: Crohn disease (n=25), ulcerative colitis (n=12), indeterminate colitis (n=1), normal (n=6). RESULTS: Bowel wall thickness (BWT) and endoscopic severity were compared in 153 colonic segments. No difference was found between normal and mildly affected segments. BWT was less in normal bowel than moderate (P<0.001) or severe (P<0.001) lesions. Where BWT was >2.9 mm, sensitivity for moderate/severe disease was 48%, specificity 93%, positive predictive value 83% (likelihood ratio 7). Barium radiology showed terminal ileum abnormality in ten patients (40%). Where ileal BWT was >2.5 mm, comparative sensitivity was 75%, specificity 92%, positive predictive value 88% (likelihood ratio 9). Superior mesenteric artery Doppler did not correlate with disease severity. CONCLUSION: Increased BWT has good positive predictive value for moderate/severe disease in the colon proximal to the rectum (>3 mm), and terminal ileum (>2.5 mm). BWT below this cannot exclude moderate/severe mucosal lesions.

Crohn's disease post-cardiac transplantation presenting with severe growth failure and delayed onset of puberty.

We report a 15 yr-old girl who 10 yr post-cardiac transplantation presented with severe growth failure and delayed onset of puberty. She was found to have pan-enteric Crohn's disease and has done remarkably well on principally nutritional therapy with a significant growth spurt and the onset of menarche. The development of bowel disease whilst on immunosuppression is rare and the literature is reviewed.

Renal calculus at presentation in a child with Crohn's disease.

Genitourinary complications are relatively common in inflammatory bowel disease, with a reported incidence of 4-23%, although they more frequently occur in established disease. We present the case of a 12-year-old boy, already under investigation for short stature, who only developed florid symptoms of colitis after removal of a large staghorn calculus. In all cases of childhood nephrolithiasis, the possibility of underlying inflammatory bowel disease needs to be considered.

Bilateral multicystic kidneys--an unusual case.

Multicystic dysplasia of the kidneys is a condition whose prognosis is good as it usually presents unilaterally. Bilateral cases are usually fatal in utero. We report a case of bilateral multicystic dysplasia of the kidneys where the lower moiety of the right kidney was spared cystic change. The patient had normal renal function and, following conservative management, remains alive and well 6 months later.

Radiograph evaluation in children with acute hip pain.

Acute hip pain is relatively common in children. The etiology varies according to age and sex. Conventional radiography is commonly used to evaluate the painful hip. The views obtained depend on local departmental protocol, and there is no scientific basis for the choice of preferred projection. The authors' aim was to evaluate the role of anteroposterior (AP) and frog lateral (FL) radiographs in children younger than 14 years of age with hip pain to develop rational, evidence-based investigation guidelines. Four investigators retrospectively reviewed AP and FL radiographs of 96 children. The results were analyzed using the chi-square statistic. Overall results showed a reduction in sensitivity to about 70% and specificity to 90% when using a single view instead of combined views. These results indicate that despite the potential risks of increased radiation exposure with more than one view, combined AP and FL radiographs improve the diagnostic accuracy compared with single views alone. The authors believe that the additional radiation burden is therefore justified.