Contribution of fetal MRI to the diagnosis of inner ear abnormalities: report of two cases

We report two cases of fetal inner ear abnormalities diagnosed by MRI. Cerebral MRI was performed on two fetuses, at 32 and 30 weeks gestation, following US that demonstrated multiple malformations suggestive of CHARGE syndrome in one fetus and ventriculomegaly and poor visibility of the posterior fossa in the other. MRI revealed vestibular hypoplasia and agenesis of the semicircular canals in one fetus and cystic cochleas, partial vermian agenesis and an occipital meningocele in the second fetus. Both pregnancies were terminated and there was good correlation between fetal MRI, ex utero CT and fetopathological findings. The inner ears should be carefully examined when performing fetal cerebral MRI because abnormalities of the inner ear may be associated with cerebral anomalies.     

Prenatal diagnosis of horseshoe lung: contribution of MRI

Horseshoe lung is a very rare pulmonary anomaly that is characterized by an isthmus of lung parenchyma bridging the right and left lungs and extending through the mediastinum. We report on the prenatal diagnosis of such a malformation in a 33-week-gestation fetus. The diagnosis was initially suspected on antenatal ultrasonography performed at 33 weeks and confirmed by fetal MRI and subsequent pathological examination after termination of pregnancy. To our knowledge, this is the first reported case of antenatal diagnosis of horseshoe lung.     

History of the infantile hepatic hemangioma: From imaging to generating a differential diagnosis

We aim to provide an up-to-date summary of infantile hepatic hemangioma (IHH) and its misnomers and to dialectically present the differential diagnosis of these rare entities of the liver. Eligible peer-reviewed articles on hepatic infantile hemangiomas, published between 2000 and 2015, were reviewed for this study. IHH is the most common hepatic vascular tumor in children. Once a liver mass is identified in an infant, the differential diagnosis ranges from vascular malformations to benign and malignant tumors including mesenchymal hamartoma, hepatoblastoma, metastatic neuroblastoma, so careful physical examination, imaging studies, and, if indicated, tumor markers and biopsy, are of pivotal importance to ascertain the correct diagnosis. Despite the benign nature of IHHs, some of these lesions may demand medical and/or surgical intervention, especially for multiple and diffuse IHH. Complications can include hepatomegaly, hypothyroidism and cardiac failure. Therefore, a close follow-up is required until complete involution of the lesions. We propose an algorithm to guide the physicians towards the proper management of hepatic lesions.     

Lymphocytic femoral fasciitis in an infant with neuroblastoma: a possible paraneoplastic association

Known paraneoplastic effects of neuroblastoma are acute cerebellar ataxias, myasthenia gravis, and papilledema. Fasciitis as a paraneoplastic manifestation of neuroblastoma has not been described previously. An 11-month-old boy presented with a 3-month history of bilateral thigh swelling. Incisional biopsy showed intense lymphocytic infiltration of the fascia lata. A CT scan of the abdomen showed a paraspinal mass medial to the left kidney. Histologic examination of the resected tumor showed neuroblastoma. Removal of the tumor was followed by a dramatic reduction in the size of the thigh swelling.     

Symptomatic asymmetry in the first six months of life: differential diagnosis

Asymmetry in infancy is a clinical condition with a wide variation in appearances (shape, posture, and movement), etiology, localization, and severity. The prevalence of an asymmetric positional preference is 12% of all newborns during the first six months of life. The asymmetry is either idiopathic or symptomatic. Pediatricians and physiotherapists have to distinguish symptomatic asymmetry (SA) from idiopathic asymmetry (IA) when examining young infants with a positional preference to determine the prognosis and the intervention strategy. The majority of cases will be idiopathic, but the initial presentation of a positional preference might be a symptom of a more serious underlying disorder. The purpose of this review is to synthesize the current information on the incidence of SA, as well as the possible causes and the accompanying signs that differentiate SA from IA. This review presents an overview of the nine most prevalent disorders in infants in their first six months of life leading to SA. We have discovered that the literature does not provide a comprehensive analysis of the incidence, characteristics, signs, and symptoms of SA. Knowledge of the presented clues is important in the clinical decision making with regard to young infants with asymmetry. We recommend to design a valid and useful screening instrument.     

Left ventricular noncompaction in an infant: use of non-ECG-gated cardiac CT

We report an infant who had left ventricular dysfunction of unknown etiology and was diagnosed with left ventricular noncompaction by non-ECG-gated cardiac CT. This relatively rare diagnosis, an unclassified cardiomyopathy, was confirmed by retrospective review of echocardiography on which the diagnosis had initially been missed. As in echocardiography, CT was capable of delineating the characteristic two-layered myocardium of the left ventricle with the most severe involvement of the apical segment.     

Isolated Hemihyperplasia in an Infant: An Overlooked Sign for Wilms Tumor Development

Background

Children with overgrowth syndromes including isolated hemihyperplasia have an increased risk for developing embryonal tumors, particularly Wilms’ tumor and hepatoblastoma. Screening with sonography has been suggested as a method of identifying these tumors while they are still at an early stage.

Case Presentation

We describe an infant diagnosed with Wilms tumor in whom isolated hemihyperplasia had been overlooked by several physicians prior to the tumor diagnosis.

Conclusion

We recommend tumor surveillance for all patients with Beckwith-Wiedemann syndrome and isolated hemihyperplasia at least for the first six years of life since full molecular characterization of every patient is not readily available.     

Osteochondritis dissecans of the subtalar articular facet: an unusual diagnosis

Osteochondritis dissecans of the talus is classically characterized by an abnormality of the articular cartilage of the talar dome. We report a rare case of a lesion of the subtalar facet in a 10-year-old boy. The lesion was responsible for a painful ankle with secondary instability. The diagnosis was made using plain radiographs and CT, which showed a well-circumscribed osteochondral fragment demarcated from the adjacent bone by a radiolucent line. The clinical outcome was favourable after a 6-week period with a non-weight-bearing short-leg cast.     

MDCT evaluation of congenital mitral-aortic intervalvular fibrosa aneurysm: implications for the aetiology and differential diagnosis

Mitral-aortic intervalvular fibrosa aneurysm is a rare disease whose aetiology remains a matter of debate. Here we present the youngest reported patient with the disease, a 6-month-old boy, without a history of infection, which supports a congenital origin as initially proposed. Multidetector-row CT (MDCT) surpassed echocardiography in delineating the intracardiac anatomical details with high spatial resolution, confirming the important problem-solving role of MDCT in the diagnosis of congenital heart disease. Electronic supplementary material  The online version of this article (doi:) contains supplementary material, which is available to authorized users.     

Incarcerated femoral hernia with ovary and fallopian tube torsion in an infant: a rare occurrence

Incarcerated femoral hernia with ovary and fallopian tube torsion is very rare in children. We herein report a case of incarcerated femoral hernia with ovary and fallopian tube torsion in a 7-month-old female who was diagnosed on the basis of operative findings. We released the torsion of the left fallopian tube. However, the ovary remained discolored. Left salpingo-oophorectomy and McVay repair for femoral hernia were performed. She has experienced no recurrence of femoral hernia for 3 years. We must consider incarcerated femoral hernia in the differential diagnosis for infants with groin redness and swelling.     

Ciliated hepatic foregut cyst: from antenatal diagnosis to surgery

Ciliated hepatic foregut cyst is the only ciliated cystic lesion known to occur in the liver. It is an extremely rare, benign and solitary cyst that probably arises from remnants of the embryonic foregut in the liver. We report a 16-month-old girl who underwent surgical excision of a hepatic cyst discovered during antenatal ultrasonography. Surgical exploration and excision were performed because of the uncertain aetiology of the cyst and because on postnatal follow-up US the size of the mass had increased causing extrinsic biliary obstruction. Pathology revealed a ciliated hepatic foregut cyst. This is the fourth child affected by this lesion reported in the literature, the second undergoing surgical excision, and the second with antenatal diagnosis.     

Acute rib fracture diagnosis in an infant by US: a matter of child protection

Rib fractures in infants and children are highly specific for inflicted injury in the absence of a major accidental injury or underlying bone disorder. We present a 9-week-old infant diagnosed with an acute rib fracture by US at the site where physicians palpated chest wall crepitus when no rib fractures had been visualized on the skeletal survey, including oblique views of the ribs. Based on the US diagnosis of the acute rib fracture the infant was taken into protective custody. Follow-up skeletal survey 2 weeks later revealed healing fractures of the left 6th and 7th posterolateral ribs and right 7th, 8th and 9th anterolateral ribs. We were unable to locate previous reports describing the diagnosis of rib fractures in infants by US.     

Squalene aspiration pneumonia in children: radiographic and CT findings as the first clue to diagnosis

Background: The diagnosis of squalene aspiration pneumonia in children is often difficult because of minimal non-specific symptoms. Objective: To investigate the radiological findings of squalene aspiration pneumonia in children. Materials and methods: We reviewed the chest radiographs (n = 8) and CT scans (n = 7), including high-resolution CT (n = 3), of eight patients (four boys, four girls; age 3 months to 6 years) with squalene aspiration pneumonia. All patients presented minimal symptoms. Results: Chest radiographs showed right-sided predominantly parahilar infiltrations. The extent and the opacity of the lesions decreased slowly during the follow-up period (mean 5.4 months) after halting the exposure. On CT, affected areas appeared as dense consolidations surrounded by ground-glass opacities showing a crazy-paving pattern in a geographic lobular distribution in all patients. The lesions were predominantly in the right lung and dependent areas in all patients and extensively involved all pulmonary lobes in five patients. Conclusions: These radiological findings, although non-specific, can lead to an appropriate diagnosis, particularly when patients present few symptoms.     

Hypoplastic left heart syndrome: from in-utero diagnosis to school age

HLHS can be treated with successful survival outcome. Prenatal diagnosis of the anomaly is now quite common. Our understanding of the developmental aspects of HLHS during the second and third trimesters of gestation is advancing. Survivors of surgery are being closely followed and studied as they proceed forwards in time. A number of morbidities are identified. Many questions concerning the pathophysiological mechanisms of these morbidities exist. New therapies and treatments will certainly arise to meet the challenges these children face as they enter into adulthood, and as our understanding of this unique cardiovascular state progresses.     

Atresia of the submandibular duct orifices: an unusual cause of feeding problems and failure to thrive in an infant

Atresia of the submandibular duct orifice is a rare developmental anomaly, which causes swelling of the duct by accumulation of saliva. The cystic mass in the floor of the mouth can cause feeding problems, which can be treated by surgical opening of the duct. We report the first Swedish case in a male infant, who had severe difficulties to feed because of bilateral swellings of the submandibular ducts caused by orifice atresia. Conclusion:  This is the first case that has described failure to thrive because of this condition and catch up after treatment. It is important to remember that evaluation of feeding problem in an infant must include inspection of the oral cavity.     

Congenital lactic acidosis due to pyruvate carboxylase deficiency: Absence of an inhibitor of TPP-ATP phosphoryl transferase

Two children are described who suffered from episodes of metabolic acidosis and progressive mental and motor deterioration. The patients showed periodic elevation of blood lactate, pyruvate and alanine, which was accompanied by vomiting, hypotonia or convulsions. The concentrations of lactate and pyruvate in cerebrospinal fluid were found to be increased. Liver biopsies revealed a decrease in pyruvate carboxylase activity and normal pyruvate decarboxylase activity. No inhibitor of TPP-ATP phosphoryl transferase was detected in urine from the patients.These findings suggest that congenital lactic acidosis due to pyruvate carboxylase deficiency is probably a different disease entity from Leigh's encephalomyelopathy. A possible mechanism of brain damage caused by a defect in pyruvate carboxylase is postulated.Supported by Grant from the Ministry of Education and the Ministry of Public Welfare, Japan     

Doppler and 2D echocardiographic diagnosis of congenital coronary artery fistulae to the right cardiac chambers: Report of 3 cases

We present three cases of coronary artery fistulae to the right cardiac chambers. The first was a 2-day-old neonate in congestive heart failure: 2D and Doppler echocardiography revealed a dilated proximal left coronary artery and a fistulous connection to the right atrium. The other two patients, respectively 4 and 3 years old, were asymptomatic and presented with a continuous heart murmur: a left coronary artery fistula into the right ventricle was detected by ultrasound in one, and a dilated proximal right coronary artery in the other. The diagnosis was confirmed in all three patients. The first patient was operated upon at 18 months of age; the second patient is awaiting surgery, and in the third patient the fistula was ligated at the age of 3 years. The possibility of ultrasound diagnosis without invasive procedures is suggested.     

Cystic fibrosis-related diabetes: an approach to diagnosis and management

Diabetes is a common complication of cystic fibrosis (CF). Because of evidence that it is associated with increased morbidity and mortality, prompt diagnosis and aggressive management of CF-related diabetes (CFRD) is important. The Cystic Fibrosis Foundation held a consensus conference in 1998 to define the current standards for the diagnosis and care of this disease [Moran A, Hardin D, Rodman D et al. Diagnosis, screening, and management of CFRD: a consensus conference report. J Diabetes Res Clin Pract 1999: 45: 61–73]. This article reviews those recommendations, and presents the practical approach to the management of CFRD used at the University of Minnesota.     

Magnetic Resonance Imaging of a Distorted Left Subclavian Artery Course: An Important Clue to an Unusual Type of Double Aortic Arch

The objective of this study was to determine if distortion of the left subclavian artery course distinguishes double aortic arch with atretic left dorsal aorta from right aortic arch with mirror image branching. We performed a retrospective case series at a tertiary care center. Twenty-six patients undergoing magnetic resonance imaging for suspicion of a vascular ring were identified, 6 of whom had an atretic left dorsal aorta confirmed by surgical inspection. Six patients with the diagnosis of right aortic arch with mirror image branching were identified for comparison. The course of the left subclavian artery was assessed using surface-rendered magnetic resonance angiography (MRA) and axial fast spin echo images. All patients with double aortic arch had clinical symptoms suggestive of esophageal or tracheal compression. Six patients had double aortic arch, 3 of whom had an atretic left dorsal aorta. In these 3 patients, the branching patterns on MRA mimicked right aortic arch mirror image branching except for the distortion of the initial course of the left subclavian artery. Surgical observation confirmed the presence of an atretic left dorsal aorta that resulted in tension on the left subclavian artery pulling it posteriorly and inferiorly and completing the vascular ring. Patients with right aortic arch mirror image branching demonstrated no such subclavian artery distortion, and these patients did not have clinical symptoms suggestive of a vascular ring. Our results demonstrate that left subclavian artery distortion due to traction by an atretic left arch is an important diagnostic finding in the evaluation 6 patients with suspected vascular rings.