Additional value of advanced neurosonography and magnetic resonance imaging in fetuses at risk for brain damage.

OBJECTIVE: To assess the additional value of fetal multiplanar (axial, coronal and sagittal) neurosonography and magnetic resonance imaging (MRI) to that of the standard axial ultrasound planes in diagnosing brain damage in fetuses at high risk. METHODS: This was a prospective, multicenter, observational study. Women were eligible for participation if their fetus was at risk for acquired brain anomalies. Risk factors were congenital infection, alloimmune thrombocytopenia, fetal growth restriction, trauma during pregnancy, fetal hydrops, monochorionic twins and prior ultrasound finding suggestive of an acquired brain anomaly. Examinations of the fetal brain before birth comprised axial ultrasound and advanced neurosonography biweekly and MRI once. After birth, neonatal cranial ultrasound was performed at < 24 h and at term-equivalent age. Neonatal brain MRI was performed once at term-equivalent age. An expert panel blinded to medical information, including imaging findings by the other methods, evaluated the presence of periventricular echogenicity (PVE) changes, peri- and intraventricular hemorrhage (IVH) and changes in basal ganglia and/or thalami echogenicity (BGTE) on ultrasound, and the equivalent signal intensity (SI) changes on MRI. Conclusions on imaging findings were generated by consensus. The children were followed up with examinations for psychomotor development at 1 year of age, using the Touwen examination and Alberta Infant Motor Scale, and at 2 years of age using Bayley Scale of Infant Development-III (BSID-III) and behavioral, sensory profile and linguistic questionnaires; scores > 1 SD below the mean were considered suspicious for neurodevelopmental sequelae. RESULTS: Fifty-six fetuses were examined, and in 39/56 fetuses, all fetal-imaging modalities were available. PVE/SI changes were observed in 6/39, 21/39 and 2/39 fetuses on axial ultrasound planes, multiplanar neurosonography and MRI, respectively. IVH was found in 3/39, 11/39 and 1/39 fetuses, and BGTE/SI changes in 0/39, 12/39 and 0/39 fetuses, respectively. Outcome was suspicious for neurodevelopmental sequelae in 13/46 infants at 1 year, and at 2 years, 41/41 children had scores within 1 SD of the mean on BSID-III and 20 had scores > 1 SD below the mean on the behavioral (5/38), sensory profile (17/37) and/or linguistic (6/39) questionnaires. CONCLUSIONS: In this cohort of fetuses at risk for brain damage, the severity of acquired brain anomalies was limited. Nevertheless, multiplanar neurosonography detected more fetal PVE changes, IVH and/or BGTE changes compared to the standard axial ultrasound planes and MRI. Fetal MRI did not demonstrate any anomalies that were not seen on neurosonography. Neurodevelopmental outcome at 2 years of age showed no or mild impairment in most cases. © 2019 Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Diagnostic accuracy of preoperative ultrasonography in predicting contralateral inguinal hernia in children: a systematic review and meta-analysis.

OBJECTIVES: The incidence of children developing metachronous contralateral inguinal hernia (MCIH) is 7-15%. Contralateral groin exploration during unilateral hernia repair can prevent MCIH development and subsequent second surgery and anaesthesia. Preoperative ultrasonography is a less invasive strategy and potentially able to detect contralateral patent processus vaginalis (CPPV) prior to MCIH development. METHODS: We queried MEDLINE, Embase and Cochrane library to identify studies regarding children aged < 18 years diagnosed with unilateral inguinal hernia without clinical signs of contralateral hernia, who underwent preoperative ultrasonography of the contralateral groin. We assessed heterogeneity and used a random-effects model to obtain pooled estimates of sensitivity, specificity and area under the receiver operating characteristic curve (AUC). RESULTS: Fourteen studies (2120 patients) were included, seven (1013 patients) in the meta-analysis. In studies using surgical exploration as reference test (n = 4, 494 patients), pooled sensitivity and specificity were 93% and 88% respectively. In studies using contralateral exploration as reference test following positive and clinical follow-up after negative ultrasonographic test results (n = 3, 519 patients), pooled sensitivity was 86% and specificity 98%. The AUC (0.984) shows high diagnostic accuracy of preoperative ultrasonography for detecting CPPV, although diagnostic ultrasonographic criteria largely differ and large heterogeneity exists. Reported inguinal canal diameters in children with CPPV were 2.70 ± 1.17 mm, 6.8 ± 1.3 mm and 9.0 ± 1.9 mm. CONCLUSION: Diagnostic accuracy of preoperative ultrasonography to detect CPPV seems promising, though may result in an overestimation of MCIH prevalence, since CPPV does not invariably lead to MCIH. Unequivocal ultrasonographic criteria are mandatory for proper diagnosis of CPPV and subsequent prediction of MCIH. KEY POINTS: • Diagnostic accuracy of preoperative ultrasonography for detection of CPPV in children with unilateral inguinal hernia is high. • Preoperative ultrasonographic evaluation of the contralateral groin assumedly results in an overestimation of MCIH prevalence. • Unequivocal ultrasonographic criteria are mandatory for proper diagnosis of CPPV and risk factor identification is needed to predict whether CPPV develops into clinically apparent MCIH.

Brain abnormalities on MR imaging in patients with retinoblastoma.

BACKGROUND AND PURPOSE: Although pineoblastoma is the main brain abnormality associated with hereditary retinoblastoma, recent studies suggest an association with pineal cysts. This association is important because some pineoblastomas mimic pineal cysts. If there is a relationship, then radiologists should be aware of it because diagnostic confusion is possible. Mental retardation and congenital brain anomalies are also reported in patients with retinoblastoma, mostly in combination with 13q deletion syndrome. In this retrospective study, the presence of brain abnormalities on MR images in a large group of consecutive patients with retinoblastoma is evaluated. MATERIALS AND METHODS: Brain MR images of 168 patients with retinoblastoma from 1989 to 2009 were evaluated by 2 radiologists for tumors, structural anomalies, myelinization, and coincidental findings. Clinical records were reviewed for laterality, heredity, and the presence of the 13q deletion syndrome. RESULTS: The hereditary group (patients with bilateral and unilateral proved RB1-germline mutation) included 90 (54%) of 168 patients. Seven patients had 13q deletion syndrome. Normal findings on brain MR images were seen in 150 (89%) patients. Five pineoblastomas were detected, all in patients with hereditary retinoblastoma (5.5% in the hereditary subgroup). Nine pineal cysts were detected (2.2% in the hereditary subgroup). Corpus callosum agenesis was found in 1 patient and a Dandy-Walker variant in 1 patient, both in combination with 13q deletion syndrome. CONCLUSIONS: Pineoblastoma is associated with hereditary retinoblastoma, and structural brain abnormalities are restricted to patients with the 13q deletion syndrome. The incidence of pineal cysts in patients with retinoblastomas is similar to that in healthy children and is not associated with hereditary retinoblastoma.

Prolonged treatment with the Pavlik harness in infants with developmental dysplasia of the hip.

We prospectively studied the benefits and risks of prolonged treatment with the Pavlik harness in infants with idiopathic developmental dysplasia of the hip. Bracing was continued as long as abduction improved. It was started at a mean age of four months (1 to 6.9). Outcome measures were the number of successful reductions, the time to reduction, the acetabular index and evidence of avascular necrosis at follow-up at one year. In 50 infants with 62 subluxated and dislocated hips (42 Graf type III and 20 type IV), 37 were reduced successfully with a mean time to reduction of 13.4 weeks (sd 6.8). Bracing was successful in 31 type-III (73.8%) and in only six type-IV hips (20%, p = 0.002). Avascular necrosis was seen in ten hips. Prolonged treatment with the Pavlik harness for developmental dysplasia of the hip over the age of one month can be beneficial in type-III hips, but it is unclear as to whether this is the optimal treatment, since it may postpone the need for closed or open reduction to a more unfavourable age. The use of the Pavlik harness in type-IV hips in this age group is questionable, but if used, prolonged bracing is not advised.

Paraneoplastic gastro-intestinal anti-Hu syndrome in neuroblastoma.

The anti-Hu syndrome is a well-known paraneoplastic syndrome and may be rarely seen in patients with neuroblastoma. However, it is relatively unknown that anti-Hu antibodies can cause gastro-intestinal signs and symptoms. We report on a child with neuroblastoma who presented with gastro-intestinal disturbances as a result of the anti-Hu syndrome and summaries two similar case reports reported in literature. Neuroblastoma patients with gastro-intestinal disturbances, ranging from constipation to a paralytic ileus, might suffer from the gastro-intestinal anti-Hu syndrome. The causative antibodies can be determined to diagnose or exclude this syndrome, and successful treatment is possible.

Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype.

Spondyloepiphyseal dysplasia (SED), Omani type (OMIM 608637) is a recessively inherited skeletal dysplasia previously described in two distantly related families from the Republic of Oman. The phenotype consists of short stature, severe kyphoscoliosis, arthritic joints (elbows, wrists, knees), secondary large joint dislocations, rhizomelia, fusion of carpal bones and mild brachydactyly. Affected individuals were homozygous for a missense mutation, R304Q in CHST3 that encodes the enzyme chondroitin 6-O-sulfotransferase-1 (C6ST-1). This enzyme mediates the sulfation of proteoglycans, particularly chondroitin sulfate (CS), in the extracellular matrix of cartilage. Here we describe the identification of a mutation (857T > C predicting the substitution L286P) in CHST3 in a Turkish family and extend the clinical phenotype of SED-Omani type to include congenital joint dislocation, club feet, ventricular septal defect, deafness, metacarpal shortening and accessory carpal ossification centers. Fibroblasts and urine obtained from affected patients demonstrated negligible levels of 6-O-sulfated GalNAc residue in CS. Furthermore, the 6-O-sulfotransferase activity of cloned C6ST-1 into which the L286P mutation had been introduced was dramatically reduced, confirming the pathogenicity of this substitution. These results indicate that the clinical consequences of a deficiency of 6-O-sulfation in CS can be varied and that a clinical spectrum may exist similar to that seen in other skeletal dysplasias characterized by disorders of proteoglycan sulfation.

[Post-mortem MRI in newborns when autopsy is not permitted]. / MRI post mortem bij pasgeborenen bij wie obductie niet wordt toegestaan.

2 newborns, boys weighing 1400 and 950 g, died 2 and 8 hours after birth respectively. Autopsy was not permitted but MRI was possible. In the first newborn, characteristic abnormalities ofa Potter's sequence were found: pulmonary hypoplasia, missing kidneys and ureters and a rudimentary bladder. Clinically, a small chest, low-positioned ears, a flattened nose, a retracted chin, contractures of both knees and a talipes equinus of both feet had already been observed. In the second newborn, an MRI scan of the skull revealed a torn cerebellar tentorium with intracranial bleeding. The cause of death in newborns is often unknown. Autopsy is the gold standard for determining the cause of death. However for a variety of reasons, many parents do not give informed consent for autopsy. In such cases, post-mortem MRI may be an alternative. Abnormalities ofthe central nervous system, muscles and internal organs can usually be clearly visualized using MRI. However, the diagnosis of cardiac abnormalities using this technique is more difficult.

Ultrasonographically measured testicular volumes in 0- to 6-year-old boys.

BACKGROUND: Aside from converted data from orchidometer measurements, there are no referential values for testicular volume ultrasound measurements in children available. Therefore, the aim of this study was to obtain ultrasonographically measured normative data for testicular volumes in 0- to 6-year-old boys. METHODS: A total of 344 boys from different ethnic backgrounds were studied. For the ultrasound measurements, an Aloka SSD-900 was used with a 7.5 mHz linear transducer. Testicular volume was calculated using the formula: length x width x height x (pi/6). RESULTS: No differences were found either between the various ethnic groups or between the left and right testicle. Mean testicular volume was compared between the different age categories. Mean testicular volume increases significantly in the first 5 months from 0.27 to 0.44 cm(3) after which the volume decreases to 0.31 cm(3) at approximately 9 months. During the following years, testicular volume remains stable. CONCLUSIONS: This study provides normal values for ultrasonographically measured testicular volumes in 0- to 6-year-old boys. Ultrasound is a valid method to measure small pre-pubertal testicles as it is able to detect minor changes in volume in relation to established physiological changes in the first year of life.

[Fever, coughing and/or wheezing in young children: consider the possibility of foreign body aspiration]. / Koorts, hoesten en/of piepen bij jonge kinderen: vergeet het corpus alienum niet.

Three children, 2 girls aged 1.5 and 3 years and a 2-year-old boy, experienced coughing, wheezing and/or fever for several days or weeks. The first girl was treated for asthma, the other two children for pneumonia. Because the symptoms persisted in all three children after treatment was started, the diagnosis of foreign body aspiration was suggested and confirmed by bronchoscopy. The foreign body was removed during the bronchoscopy and in the boy, a mucosal lesion in the piriform fossa was sutured. Thereafter, all the children recovered completely. In children with persistent coughing, wheezing or fever despite treatment for pneumonia or asthma and in absence of a characteristic acute incident, foreign body aspiration should be considered.

[Diagnostic image (182). A neonate with a bend in one lower leg. Posteromedial bowing of tibia and fibula]. / Diagnose in beeld (182). Een zuigeling met een knik in het onderbeen. Posterior bowing van tibia en fibula.

A preterm girl was born with posteromedial bowing of the left lower leg, and dorsiflexion and calcaneovalgus position of the left foot. The bend reduced spontaneously.

Neonatal pneumatocele as a complication of nasal continuous positive airway pressure.

A preterm infant with mild respiratory insufficiency resulting from respiratory distress syndrome developed a pneumatocele after the start of nasal continuous positive airway pressure. Pneumonia was excluded by sputum and blood cultures. Treatment with high frequency oscillation ventilation resulted in complete recovery.

Inflammatory myofibroblastic tumour of the lung manifesting as progressive atelectasis.

A 6-year-old girl with an inflammatory myofibroblastic tumour of the lung is presented. The radiological features of this lesion are often atypical, as in this case, presenting as progressive atelectasis. The differential diagnosis is extensive and can be difficult, despite modern imaging techniques.