Congenital Analgia: A Case Report

A case of congenital analgia in a 21/2 year old girl is described. In addition to the typical findings of a generalized indifference to potentially painful stimuli without any other significant neurological findings an EEG discloses a marked, bilateral epileptogenic abnormality. The girl has so far not had any signs of clinical epilepsy. The findings are discussed and a short review of the syndrome is presented.     

Spectrum of intracranial incidental findings on pediatric brain magnetic resonance imaging: What clinician should know?

Intracranial incidental findings on magnetic resonance imaging (MRI) of the brain continue to generate interest in healthy control, research, and clinical subjects. However, in clinical practice, the discovery of incidental findings acts as a “distractor”. This review is based on existing heterogeneous reports, their clinical implications, and how the results of incidental findings influence clinical management. This draws attention to the followings: (1) the prevalence of clinically significant incidental findings is low; (2) there is a lack of a systematic approach to classification; and discusses (3) how to deal with the detected incidental findings based a proposed common clinical profile. Individualized neurological care requires an active discussion regarding the need for neuroimaging. Clinical significance of incidental findings should be decided based on lesion’s neuroradiologic characteristics in the given clinical context. Available evidence suggests that the outcome of an incidentally found “serious lesion in children” is excellent. Future studies of intracranial incidental findings on pediatric brain MRI should be focused on a homogeneous population. The study should address this clinical knowledge based review powered by the statistical analyses.     

A spectrum of neuroradiological findings in children with haemophagocytic lymphohistiocytosis

Background Haemophagocytic lymphohistiocytosis (HLH) is a rare multisystem disorder. CNS involvement is a frequent and poor prognostic component. Better neuroradiological surveillance may be beneficial for patient management and outcome. Objective To describe various neuroradiological findings in nine patients with HLH with an emphasis on correlation with disease activity and treatment response. Materials and methods Between 1996 and 2007, nine children with HLH with CNS involvement were identified in a single centre. Neuroradiological findings from CT, MRI, and proton MR spectroscopy, and the clinical records of the nine children were retrospectively reviewed. The frequency, distribution, characteristics of abnormal neuroradiological findings and changes during follow-up were correlated with clinical findings. Results Initial abnormal findings included multiple nodular or ring-enhancing parenchymal lesions, a laminated pattern of nodular parenchymal lesions on T2-weighted images, leptomeningeal enhancement, confluent parenchymal lesions, mild ventriculomegaly, and diffuse brain oedema. On follow-up imaging studies, haemorrhagic transformation and atrophy were seen where brain parenchymal lesions had been previously. These abnormal neuroradiological findings showed good correlation with clinical findings. Proton MR spectroscopy also demonstrated typical changes of metabolites during the course of the disease. Conclusion A spectrum of neuroradiological findings in children with HLH is well matched with the clinical course of the disease and, therefore, a comprehensive analysis of the findings is useful to monitor disease activity and treatment responses.     

Serial prenatal and postnatal MRI of dystroglycanopathy in a patient with familial B3GALNT2 mutation

The dystroglycanopathies are a heterogeneous group of conditions, with mutations in B3GALNT2 described in association with congenital muscular dystrophy. The serial prenatal MRI findings in this disorder have not been well described. We present sequential prenatal and postnatal MRI findings in a boy with compound heterozygous mutations in B3GALNT2, as well as the MRI findings of his two siblings with similar mutations. These findings provide new insight into the molecular pathogenesis and neurodevelopment of congenital muscular dystrophy.     

Rectal biopsy in children with Down syndrome and chronic constipation: Hirschsprung disease vs non-hirschsprung disease

Hirschsprung disease (HD) is reported in patients with Down syndrome with a frequency between 2% and 10%. The incidence of HD is 2% in our community-based registry that contains >700 patients with Down syndrome. We reviewed rectal biopsy findings in 32 of these patients who had suction rectal biopsy performed between 1980 and 2009 to investigate the cause of chronic constipation. We confirmed that 15 patients had diagnostic histologic and histochemical features of HD. More challenging were findings in 5 of 17 patients, in whom ganglia coexisted with equivocal acetylcholinesterase reaction patterns and/or hypertrophic submucosal nerves. In this retrospective study, we were able to resolve most of these discrepant findings by demonstrating normal calretinin-positive nerve twigs in the lamina propria and muscularis mucosae. The clinical significance of these unexpected findings in suction rectal biopsy specimens that did not satisfy strict criteria for a tissue diagnosis of HD is unknown. We speculate that a minority of these patients have transition zone morphology or an incomplete/atypical form of HD. Further investigations may help resolve discrepancies that arise when suction rectal biopsy is used to investigate chronic constipation in Down syndrome.     

Pierson syndrome: a novel cause of congenital nephrotic syndrome

In this report, we describe a newborn infant who presented with congenital nephrotic syndrome and renal insufficiency, as well as bilateral microcoria. This constellation of findings is a hallmark of Pierson syndrome, a newly recognized genetic disorder that is caused by a deficiency of beta2 laminin in the basement membrane. Our patient demonstrated classic histopathologic findings of Pierson syndrome on renal biopsy, including absence of beta2 laminin on immunofluorescent staining, and genetic testing confirmed the diagnosis. We conclude that Pierson syndrome should be included in the differential diagnosis for congenital nephrotic syndrome, especially in patients with ocular abnormalities.     

Epstein-Barr virus encephalitis and encephalomyelitis: MR findings

The purpose of this project is to investigate the clinical and brain MR characteristics of Epstein-Barr virus (EBV) encephalitis and encephalomyelitis. Clinical and 30 MR findings of 29 patients with EBV encephalitis or encephalomyelitis were retrospectively reviewed. Patients included 24 with encephalitis, 3 with encephalomyelitis, and 2 with brain-stem encephalitis. Altered consciousness, seizures, visual hallucination, and acute psychotic reaction were the common presentations. Eight patients had positive MR findings. These included T2 prolongation over gray and white matter, periventricular leukomalacia, and brain atrophy. Transient T2 prolongation over gray and white matter was found in one patient. Our results indicate that EBV encephalitis and encephalomyelitis have a wide range of both clinical and MR findings. The MR lesions may disappear in a short period, so the timing for the MR scan may be critical.     

Presentation of Atrial Septal Defect in the Pediatric Population

Our recent experience indicates that patients with a hemodynamically significant atrial septal defect secundum (ASD²) do not necessarily present with classic physical and electrocardiographic (ECG) findings. The purpose of the study was to review the records of patients either receiving a catheter device or undergoing surgical repair for the closure of ASD² to determine their initial physical and ECG findings. Therefore, we did a retrospective review of 47 consecutive patients who had echocardiographic evidence of a hemodynamically significant isolated ASD² and who underwent ASD² closure. Of these 47 patients, the presenting complaints were murmur (n = 36), chest pain (n = 6), seizure (n = 1), stroke (n = 1), syncope (n = 1), Kawasaki’s disease (n = 1), and cardiomegaly (n = 1). Charts were reviewed for the evaluation of four abnormal physical findings: hyperactive right ventricular impulse, split fixed second heart sound, systolic and diastolic flow murmurs; and three ECG abnormalities: right axis deviation, right atrial enlargement, and evidence of right ventricular hypertrophy. In all, 30% of patients had either one or no typical physical findings, 18% had normal ECG findings, and 7% had no physical or ECG findings. On physical examination and ECG, the abnormalities due to ASD² may be too subtle to detect. Although it is well known that variations can occur in the clinical signs and symptoms typical of ASD², dependence on classical physical and or ECG findings may result in the underdiagnosis of a significant number of patients.     

Posttraumatic diaphragmatic herniation: CT findings in two children

Traumatic diaphragmatic hernia is a rare injury in children. The diagnosis is often delayed because of nonspecific clinical and radiologic findings. We report the CT findings in two children with visceral herniations, one hepatic and one gastric, resulting from traumatic rupture of the diaphragm.Motor-vehicle accidents are the most common cause of acquired diaphragmatic hernia in children [1]. Because it is rare and often overshadowed by associated injuries, the diagnosis of posttraumatic diaphragmatic rupture is often delayed [1, 2]. We show how CT can aid visualization of the diaphragm or reveal associated findings leading to the diagnosis of diaphragmatic rupture.     

Children of methadone-maintained mothers: follow-up to 18 months of age

Limited information is available on the long-term effects of in utero methadone exposure. This report describes the somatic and neurobehavioral findings of children in the first 18 months of life born to methadone-maintained mothers and to a matched drug-free comparison group of mothers. Findings during the neonatal period were (1) a 75% incidence of moderate-to-severe narcotic abstinence syndrome, (2) a significant incidence of head circumferences below the third percentile, and (3) elevated systolic blood pressure. In follow-up, the methadone children had (1) a significantly higher incidence of otitis media; (2) a significant incidence of head circumferences below the third percentile; (3) neurologic findings of tone discrepancies, developmental delays, and poor fine motor coordination; (4) a high incidence of abnormal eye findings; and (5) significantly lower scores on the Bayley mental and motor developmental indices. These neurobehavioral findings in children of methadone-treated mothers at 18 months of age may be predictors of later learning and behavioral problems.     

MR imaging of symptomatic neurocutaneous melanosis in children

Neurocutaneous melanosis is a syndrome consisting of cutaneous nevi and melanocytosis of the leptomeninges. Over a 5-year period (1989–1994) we evaluated with MR imaging the central nervous system of five children with a confirmed histologic diagnosis of neurocutaneous melanosis. The children ranged in age from 7 to 10 years and consisted of two girls and three boys. They all had multiple pigmented skin lesions (cutaneous nevi) and presented with seizures, signs of raised intracranial pressure, cranial nerve palsies and/or myelopathy. The MR studies were performed with T1-weighted, T2-weighted and T1-weighted post-gadolinium images of the brain in addition to T1-weighted post-gadolinium images of the entire spine. The MR findings in all the children consisted of marked, diffuse enhancement of thickened leptomeninges surrounding the brain and spinal cord which was only demonstrated on the post-gadolinium T1-weighted images and mild to moderate hydrocephalus. We present our MR findings and compare these findings with other imaging findings in the literature. Our findings represent part of a spectrum of imaging abnormalities seen in patients with neurocutaneous melanosis. Received: 2 October 1995 Accepted: 19 January 1996     

Hemolytic uremic syndrome: MR findings of CNS complications

MR findings of a patient with hemolytic uremic syndrome involving the CNS are described. Abnormal high signal intensity on T2-weighted images combined with swelling in the lentiform nucleus, posterior limb of internal capsule, external capsule bilaterally, and left extreme capsule was shown on initial MR; a small low signal intensity in the left putamen on T1-and T2-weighted images and generalized atrophy in the area of high signal intensity on previous T2-weighted images was shown on follow-up MR. These findings indicate infarct with focal hemorrhage, which is one of the histopathological features of CNS complication in hemolytic uremic syndrome.     

The radiologist says malrotation: does the surgeon operate?

The management of malrotation when it is an incidental finding is unclear. This retrospective study reports an analysis of radiological and operative findings in a series of 71 patients. There were no deaths. We report a false-positive rate of 15% for upper gastrointestinal contrast studies reported as showing malrotation. Our findings and a review of the literature demonstrate that in the asymptomatic child over 2 years of age, the evidence supporting mandatory correction of malrotation is weak. Accepted: 7 June 1999     

CT and MRI in haemolytic uraemic syndrome with central nervous system involvement: distribution of lesions and prognostic value of imaging findings

Background: Central nervous system (CNS) involvement is a common complication in haemolytic uraemic syndrome (HUS). Various imaging findings have been described, mostly as case reports. Although there are a few retrospective studies on larger patient groups there is no report that focuses on MRI. Objective: To analyse the CT and MRI studies of patients with neurological complications of HUS, to describe the typical imaging findings, and to evaluate their predictive character with regard to follow-up examinations and clinical outcome. Materials and methods: Of 57 patients with clinically proven HUS who were referred to our hospital between 1995 and 2003, 17 had signs of serious CNS involvement and 10 underwent neuroimaging. Nine MRI and seven CT studies were performed in the acute phase and five MRI and two CT studies were done for follow-up. Results: In six patients, pathological imaging findings were seen on CT or MRI performed in the acute phase of the disease whereas CT and MRI scans were completely normal in four patients. All patients with positive imaging findings had pathological changes within the basal ganglia. Additional findings were seen in the thalami (n=2), cerebellum (n=2) and brain stem (n=1). On follow-up imaging performed in five cases, the pathological imaging findings had resolved completely in two and partially in three patients. All patients had a good neurological outcome. Comparing the various MRI findings, a haemorrhagic component within an acute lesion was the most reliable parameter predicting residual pathologic findings on follow-up imaging. Conclusions: Basal ganglia involvement is a typical finding in patients with neurological complications of HUS. Even in patients with severe CNS involvement on acute imaging studies, prognosis was favourable for clinical outcome and resolution of pathological imaging findings.     

Pneumatic rupture of the esophagus caused by carbonated drinks

Pneumatic rupture of the esophagus occurs when gas under pressure is accidentally delivered into the oral cavity. To the 4 cases previously described we add 2 pediatric patients and in both the source of the offending gas was a bottle of carbonated drink. The mild initial symptoms were followed in both by physical and radiographic findings suggesting pharyngoesophageal perforation. Early radiologic findings included free subcutaneous and mediastinal air, followed later by hydropneumothorax and mediastinal widening as well as leak of contrast material on gastrografin swallow. CT findings contributed to patient evaluation and management.     

MR findings of complicated multifetal gestations

This paper presents a review of various complications of multifetal gestations identified on MR imaging and highlights findings of those complications unique to monochorionic twinning. The goal is to illustrate the potential of MR as a useful application in these clinical circumstances. A total of 32 women with multifetal gestations and suspected complication detected initially by US underwent T2-weighted MR imaging. Additional T1-weighted images were obtained when intracranial hemorrhage was suspected. MR and US findings were compared in all cases. Of 32 cases, six demonstrated fetal complications specific to monochorionic twinning; the findings consisted of conjoined twins (n=2), twin-twin transfusion syndrome (n=1), co-twin demise with embolic disease (n=2), and twin-reversed arterial perfusion. (TRAP) syndrome (n=1). MR imaging confirmed US findings in all cases and was particularly helpful in delineating the extent of intracranial complications of monochorionic twins. The technique also showed improved anatomical detail in cases of conjoined twins. MR imaging provided additional information in cases of complicated monochorionic twinning, making it a useful complementary technique when combined with initial sonographic assessment.     

Pathology of the appendix in children: an institutional experience and review of the literature

Background The appendix can be affected by a variety of congenital and acquired diseases, but acute appendicitis is the most common pathology found in the pediatric population. Objective This is a retrospective review of all appendectomies performed during a 2-year period at a major children’s hospital with a review of the literature regarding the most common pathologic findings. Materials and methods The pathology database was reviewed for appendectomy specimens, and patient medical records were evaluated to determine the age, gender, race and operative diagnosis. All slides were reviewed and the histologic findings were recorded. Results A total of 392 appendectomies were performed, including 68 incidental appendectomies and 324 performed for clinical suspicion of acute appendicitis. In 247 of the latter, acute appendicitis was confirmed histologically, and of the remainder 14 were interval appendectomies, 2 had findings suspicious for Crohn disease, 1 confirmed diverticulitis and 60 were histologically negative for appendicitis. Conclusion Acute appendicitis is the most common pathologic cause of appendectomy, but various other pathologic entities are found in children. Examination of the appendix is warranted even when it appears normal on exploration.     

Pathogenesis of extrahepatic bile duct atresia (EHBA): comprehension from a surgical point of view.

INTRODUCTION: The aim of the study is to establish a complete comprehension of the pathogenesis of Biliary Atresia, and to explain both the variable and redundant pathomorphological, as well as, histological findings. MATERIALS AND METHODS: The pathomorphological and histological findings in 223 patients with histologically evident EHBA were recorded retrospectively (72 patients) or prospectively (151 patients), according to a projected ascending study. These findings were compared with histological findings in human and rat embryos. RESULTS: 1) The pathomorphological findings recorded in patients with EHBA were also found in stages of normal embryogenesis of the bile duct system in human and rat embryos. 2) Each histological finding in Biliary Atresia corresponds to a finding in an interrupted stage of the normal development in human and rat embryos. 3) The findings in patients and embryos can be explained completely by a disturbed intrinsic epithelium/mesoderm interaction. 4) Some findings in Biliary Atresia cannot be explained easily by the assumption of an extrinsic factor. CONCLUSION: There is no finding in Biliary Atresia which cannot be completely explained as the result of an intrinsic developmental error, probably due to disturbances or interruption of epithelium/mesoderm interaction during embryogenesis.     

Clinical and radiological variability of influenza-related encephalopathy or encephalitis

Abstract Background : Influenza-related encephalopathy or encephalitis is not rare in children. However, it is not well understood why the brain lesion develops from influenza infection. The purpose of this study was to clarify its pathogenesis by analyzing the clinical and neuroradiological findings in patients having influenza-related brain lesions.
Methods : The clinical findings in 10 children with influenza-related brain lesions were analyzed. Eight patients had findings consistent with the diagnosis of acute encephalopathy and two had postinfectious focal encephalitis.
Results : The results from magnetic resonance imaging (MRI) or computed tomography were divided into five categories', normal (category 1); diffuse involvement of the cerebral cortex (category 2); diffuse brain edema (category 3); symmetrical involvement of the thalamus (category 4); and postinfectious focal encephalitis (category 5). Patients in categories2–4 had symmetrical or diffuse brain lesions without leukocytosis in their cerebrospinal fluid, and there were no inflammatory reactions in the brains of two autopsied patients. Furthermore, serum concentrations of GOT were high in all, and disseminated intervascular coagulation was present in 4 of 5.
Conclusions : These findings suggested that the pathogenesis of the brain lesions in these cases was toxic or metabolic damage due to multisystemic organ diseases induced by the influenza virus. The MRI findings in patients in category 2 suggested diffuse cortical cell necrosis. On the other hand, the thalamic lesions in category 4 patients reflected hyperpermeability of the blood vessels followed by severe edema with or without microhemorrhages. The pathogenesis of lesions of category 5 included allergic angitis of a self-limiting nature. These findings indicated that the pathogenesis of brain damage induced by influenza infection was very variable.     

Multiple arterial ischemic strokes in a child with moyamoya disease and Mycoplasma pneumoniae infection

Moyamoya disease is a rare disorder characterised by a progressive occlusion or stenosis of the distal portions of bilateral internal carotid arteries with the development of a network of collateral vessels. Pediatric patients show transient ischemic attacks or strokes; diagnosis is made on the basis of clinical and radiographic findings. The case of a 2-year-old female, which after a Mycoplasma pneumoniae infection presented multiple cerebral strokes is reported. A diagnosis of moyamoya disease was made on the basis of neuroradiological findings; neurological complications due to Mycoplasma infection are reported and the relationship between disease and infection are discussed.