Differential Diagnosis Of Infants Research Articles

Myopericytoma in an Infant-Imaging Characteristics of a Rare but Benign Entity.

Teaching point: Myopericytoma is a rare soft tissue tumor but should be considered in the differential diagnosis of infants with a fast-growing perivascular tumor.

Isolated intramuscular cysticercosis in an infant-a case report

Intramuscular cysticercosis is a rare entity and presents diagnostic dilemma due to uncommon presentation. We present a case report of an 8-month-old child with muscular cysticercosis who presented with fever and a swelling on the abdominal wall. Through thorough clinical examination, laboratory investigations, and imaging studies, the diagnosis of intramuscular cysticercosis was established. The patient received prompt treatment with anthelmintic drug, leading to successful management. This case emphasizes the importance of considering muscular cysticercosis as a differential diagnosis in infants presenting with atypical symptoms, expanding our understanding of the diverse clinical presentations of this uncommon condition in pediatric populations.

Ruptured giant fusiform aneurysm in an infant: Case report and review of the literature.

Background: Intracranial aneurysms are exceedingly rare in neonates, accounting for less than 2% of all relevant cases that occur during the first decade of life. More precisely, intracranial aneurysms in children (less than 18 years old) are rarely been recorded, and their epidemiology is poorly investigated. Details about this pathology in this specific population are lacking. Because of the scarcity of this entity along with the peculiar characteristics of this patient group, the treatment of aneurysms of the cerebral circulation of these patients is challenging. The prevalence of Intracranial aneurysms in children is much lower than in adults· apart from that, several differences exist, centered on their etiology, demographic variables, aneurysm location, aneurysm morphological characteristics, clinical presentation, and outcome in pediatric and adult intracranial aneurysms. We describe the case of aneurysmal subarachnoid hemorrhage and extra-axial hemorrhage in an infant, as well as the review of the relevant current literature. Case description: We report the case of a three months old infant who was admitted to our hospital due to episodes of vomiting, associated with loss of consciousness and an epileptic ictus. An MRI-MRA scan and a digital subtraction angiography were immediately performed, which revealed the presence of a giant fusiform aneurysm near the origin of the right anterior cerebral artery. Because of the location and shape of the aneurysmal sac, the ipsilateral internal carotid artery was totally occluded with detachable coils. At follow-up, the child experienced normal psychomotor development with no motor deficit. Conclusions: Intracranial aneurysms should be considered in the differential diagnosis of infants and neonates who present with acute raised intracranial pressure. Even though rupture of an intracranial aneurysm in this age group is rare, subarachnoid hemorrhage is the most common mode of presentation. Intracranial aneurysms are frequently larger than 10 mm and located on the middle cerebral artery. The treatment could be surgical or endovascular, depending on the characteristics of the aneurysm. Seizures and cranial nerve involvement are the most common presenting features in children. The most commonly encountered sites of origin for such aneurysms are the posterior circulation, along with the internal carotid artery bifurcation. Current literature and case series suggest that there is increased incidence of giant, posttraumatic, and mycotic aneurysms in children. Based on the most recently published data, the treatment of ruptured and unruptured pediatric aneurysms is related with an increased incidence of an uneventful outcome, which reaches 95% in the current series. Pediatric intracranial aneurysms are more commonly encountered in male patients and have a predilection for the terminal ICA bifurcation.

Hypercalcemia and Nephrocalcinosis in an Infant with Subcutaneous Fat Necrosis: A Rare but Potential Serious Clinical Condition

Background: Subcutaneous fat necrosis of the newborn (SCFN) is a panniculitis characterized by the presence of violaceous subcutaneous nodules and indurated plaques on the back, buttocks, proximal extremities, or cheeks. It is a self-limiting benign condition sometimes associated with hypercalcemia that can lead to serious complications such as seizures, failure to thrive and renal failure. It usually develops in full term neonates who experienced some perinatal stress. The literature shows that hypercalcemia is found in nearly 51% of infants, with 95% of the infants developing it within 60 days of onset of skin lesions.
 Clinical Description: In this case, we describe a full-term female infant presented to us with failure to thrive at 2 months of age with a postnatal history of meconium aspiration syndrome. On further evaluation, child was found to have hypercalcemia, anemia and bilateral nephrocalcinosis.
 Management & Outcome: The clinical findings and lab investigations were consistent with subcutaneous fat necrosis with hypercalcemia as its main complication. Child was successfully treated with oral corticosteroids.
 Conclusion: Being a rare clinical condition, it is important to consider it as a differential diagnosis in infants with significant perinatal stress and hence this case report.

Pulmonary lymphangiectasia a rare cause of chylothorax: A case report

Background: Pulmonary lymphangiectasia (PL) is a rare disease characterized by dilation of the pulmonary lymphatic vessels. PL should be considered in the differential diagnosis in infants with pleural effusion, especially in the presence of chylothorax. Case Presentation: A 3-week-old neonate presented with tachypnea, cough, and reluctance to feed. Work-up found bilateral chylous pleural effusion. The patient was initially managed conservatively with bilateral tube thoracostomies and octreotide, however output from chest tubes did not subside. A left thoracotomy was performed with wedge biopsy of the apical segment of the left inferior lung lobe and multiple titanium clips were used to control thoracic duct. Postoperatively the patient continued to have high chest tube output, despite placement of clips. Histology of the biopsy confirmed the diagnosis of congenital pulmonary lymphangiectasia. Conclusion: Pulmonary lymphangiectasia is a rare cause of chylothorax. The treatment is often challenging as found in the index case.

Molecularly confirmed pontocerebellar hypoplasia in a large family from Slovakia with four severely affected children.

Pontocerebellar hypoplasia type 1 (PCH1) is characterized by a central and peripheral motor dysfunction associated with anterior horn cell degeneration, similar to spinal muscular atrophy (SMA). We analysed three probands (later discovered to be siblings) suspected to have severe SMA, however, not confirmed by genetic test. Clinical-exome analysis (Illumina) was performed to identify causative variants, followed by Sanger sequencing confirmation in probands and other 10 family members. Homozygous pathogenic variant c.92G>C (p.(Gly31Ala)) in the Exosome Component 3 (EXOSC3) gene was found in all 3 probands, thus confirming the diagnosis of a severe form of PCH1B. The parents and six siblings were carriers, while one sibling was homozygous for a reference allele. This variant is frequent in the Czech Roma population, where it is considered a founder mutation. Haplotype analysis in this largest reported PCH1B family showed that our patients inherited from their father (of Roma origin) a haplotype identical to that found in the Czech Roma population, thus indicating these alleles have a common origin. This EXOSC3 variant is rare among the general population but most likely frequent also among Roma people in Slovakia. PCH1B should be considered for a differential diagnosis in infants manifesting SMA-like phenotype, especially if of Roma origin (Tab. 1, Fig. 1, Ref. 22). Text in PDF www.elis.sk Keywords: pontocerebellar hypoplasia, PCH1B, EXOSC3, SMA plus syndromes, pathogenic sequence variant.

Pulmonary Infantile Hemangioma: Clinical and Histopathological Review of Eight Cases

IntroductionInfantile hemangioma (IH) is the most common benign vascular tumor of childhood. It typically appears as a single cutaneous mass in the head, neck, and trunk area. IH that does not arise in the skin most commonly presents in the liver. The lesion emerges shortly after birth, rapidly enlarges within the first six months of life, and then spontaneously involutes by 5-10 years of age. Risk factors associated with IH complications include lesional size, location, and growth characteristics. Pulmonary IH is rare with limited reports of clinical presentations and outcomes.MethodsAn IRB-approved, retrospective review of pediatric patients with a diagnosis of pulmonary IH was conducted. Cases were identified within the Department of Pathology at Boston Children's Hospital from surgical or autoptic specimens evaluated between 1918 and 2021. Analysis of histopathological slides confirmed pulmonary IH in eight infants. We describe the diagnostic workup, radiological, and histopathological findings of these eight patients.ResultsAll patients presented with symptoms of respiratory distress, including tachypnea, subcostal retractions, and hypoxia. The median age at initial symptoms was 1.5 months (range, birth to 12 months). Five patients had a single pulmonary hemangioma ranging in size from 0.2 to 8.0 cm; three patients had multiple pulmonary hemangiomas. Four patients had co-occurrence of multifocal hepatic IH. The median age at histologic diagnosis of pulmonary IH was 6.5 months (range, 5 weeks to 16 months). Glucose transporter-1 (GLUT-1) immunostaining was positive in seven cases. Chest radiography demonstrated nonhomogeneous, mass-like consolidative opacities or rounded nodules. Treatment was primarily supportive. Three patients received medical therapy; two were treated with interferon, and one received propranolol. The infant treated with propranolol responded well with decreased lesional size and resolution of respiratory symptoms. Half of the patients in the cohort died; causes of death included cardiac failure from hepatic involvement, sepsis, hemorrhage, and liver failure.ConclusionsAlthough IH is a common childhood tumor, IH of the lung is rare. Most (80%) IHs are focal, with hepatic co-involvement in 50-60% cases (Zavras et al. Eur J Pediatr, 2020; Hinen et al. Front Pediatr, 2020). Given that all patients who had concomitant hepatic hemangiomas died-albeit before the widespread availability of medical therapy-the presence of hepatic hemangiomas may confer high risk of complications. Patients with hepatic hemangiomas presented with pulmonary symptoms. Biopsy may be necessary to confirm the diagnosis of pulmonary IH and inform treatment. In this series, only treatment with propranolol or surgical resection was curative. Pulmonary IH should be considered in the differential diagnosis of infants with unexplained pulmonary masses, especially when accompanied by hepatic IH. Early recognition is critical for patients to receive proper and potentially life-saving treatment. DisclosuresNo relevant conflicts of interest to declare.

Severe Postnatal Cytomegalovirus Enterocolitis in Immunocompetent Term Infants Requiring Total Parenteral Nutrition.

Postnatal cytomegalovirus enterocolitis is uncommon in immunocompetent infants. We report a 10-week-old term boy with severe and prolonged secretory diarrhea, leading to dependence on total parenteral nutrition and a 10-week hospitalization. Cytomegalovirus enterocolitis was diagnosed based on duodenal biopsy in the context of marked viremia, and the child recovered promptly on initiation of ganciclovir. Collated case reports reveal delayed diagnoses as the norm but rapid improvement with antiviral treatment. Cytomegalovirus enterocolitis should be considered early as a differential diagnosis in infants with refractory diarrhea.

Case Report: White Colored Stool: An Early Sign of Cystic Fibrosis in Infants

A 2-month-old male infant presented with white colored stools 1 month after birth. There was no jaundice of the skin, mucous membrane, or sclera; his liver was enlarged (4 cm below the ribs), and his liver function tests showed slightly elevated total bilirubin (TB), direct bilirubin (DB), and total bile acid (TBA). An abdominal doppler ultrasound showed no signs of biliary atresia. Genetic testing revealed a CFTR hemizygous mutation site (c.223C>T) in exon 3 and exon 2–3 heterozygous deletion mutation. The infant's stool turned yellow after oral administration of pancreatic tablets. Finally, the infant was diagnosed with cystic fibrosis (CF). Review of literature revealed five children (including the infant in this case study) with CF who presented with white stool. All five children had anemia, four had edema and hypoproteinemia, five had changes in stool color (it was pistachio-green color in two patients, pale colored in one, acholic stool in one, and white stool in one), two had cholestasis, one infant had delayed meconium discharge, and three children had delayed growth and hepatomegaly. Two children had an abnormal sweat test, one had a F508del compound heterozygous mutation, and one had three mutation sites (C.214G>G/A, P.A72T; C.650A>A/G, P.E217G, and C.3406G>G/A, P. A1136T), which was a compound heterozygous mutation. So, CF could be included in the differential diagnosis of infants with white stool. Genetic testing could confirm an early diagnosis of CF. Pancreatic replacement therapy has been shown to be beneficial for improving the digestive function.

Staphylococcal scalded skin syndrome: An epidemiological and clinical review of 84 cases.

Staphylococcal scalded skin syndrome (SSSS) is a toxin-mediated, blistering skin disorder that mainly affects infants and children. There is limited literature regarding pediatric SSSS. The purpose of this study was to describe the epidemiology, clinical features, and management of pediatric SSSS. Retrospective cohort study of pediatric patients with a clinical diagnosis of SSSS seen at the Hospital for Sick Children in Toronto, Ontario, Canada, from January 1994 to March 2016. We included 84 patients with a clinical diagnosis of SSSS; 49/84 (58%) were male. Mean age of diagnosis was 3.1±2.4years. All patients presented with erythema and exfoliation, while 64/84 (76%) presented with vesicles/ bullae. Skin tenderness was the most common symptom, present in 68/84 (81%) subjects. Staphylococcus aureus was more commonly isolated from periorificial cultures than from bullae. Mean hospitalization was 4.7±2.3days. No difference was found in admission duration between children receiving clindamycin and those that did not (3.6±2.2 vs 3.9±2.34days, P=.63). Skin debridement was the only risk factor leading to more complications and prolonged hospitalization (P=.03). Severe complications were seen in 4 (5%) cases, and no fatalities were observed. Healthcare providers should be aware of SSSS and consider it in the differential diagnosis of infants and children with new onset erythema, exfoliation, and/or vesiculation. Suspected culprit pathogens were more often obtained from periorificial swabs; however, these isolates were not tested for exfoliative toxin to confirm causality. Antibiotic treatment should be guided by sensitivity testing. Addition of clindamycin as an anti-toxin agent had no effect on the duration of hospitalization, and this should be further investigated. Surgical debridement of the skin in patients with SSSS should be discouraged.

Functional Confirmation of DNA Repair Defect in Ataxia Telangiectasia (AT) Infants Identified by Newborn Screening for Severe Combined Immunodeficiency (NBS SCID)

The introduction of newborn screening for severe combined immunodeficiencies (NBS SCID) in 2010 was a significant public health milestone. Although SCID was the primary target, several other conditions associated with severe T-cell lymphopenia have subsequently been identified as secondary targets. The differential diagnosis in infants with an abnormal T-cell receptor excision circle result on NBS SCID who do not meet criteria for typical SCID is often broad, and often the evaluation of these conditions requires immunological and functional testing, in conjunction with genetic analysis, to obtain an accurate diagnosis and develop an appropriate management and treatment plan. We describe here 3 infants identified by NBS SCID, who required additional workup as they did not have a typical SCID phenotype and meet the relevant diagnostic criteria. Genetic testing identified pathogenic variants in ATM in all 3 patients, and the pathogenicity of the variants was confirmed by a functional flow cytometry assay. The patients underwent immunological and genetic workup to identify an underlying cause of their abnormal NBS SCID. Ataxia telangiectasia (AT) was suspected based on clinical and family history, and immunological analyses. The diagnosis was confirmed in all patients with a rapid functional flow cytometric assay and genetic testing. A rapid functional flow cytometry assay was used as a diagnostic and confirmatory tool, in conjunction with genetic testing, to make a diagnosis of AT. Experimental validation of the causal relationship between genotype and phenotype allowed for expeditious diagnosis, which facilitated early discussions with families regarding prognosis, treatment, and management. Even with increased rapidity and access to genetic results, functional testing is required for clinical diagnosis in infants identified by NBS SCID who do not fit into the classic categories or have novel genetic variants to confirm the diagnosis. Consideration should be given to the use of functional assays as an essential component of an integrated evaluation to characterize the genetics and mechanisms of inborn errors of immunity.

Pulmonary sequestration infant with unusual presentation, a case report

Introduction: Pulmonary sequestration (PS) is characterized by a separate segment of the lung that receives anomalous vascular supply separate from the pulmonary arteries. Here we are report a 4-year-old girl with dyspnea and recurrent pneumonia who was finally diagnosed as a case of PS.Case presentationA 4-year-old girl was admitted to Imam-Reza hospital, Mashhad city, Iran, with a history of coughing and dyspnea from two years ago. On the CXR, consolidation can be seen in the left lower lobe. As there was a high likely hood of aspiration or pneumonia following her past medical history, the patient underwent bronchoscopy. More investigation with HRCT; revealed vascular anomaly. CMRI showed no cardiac abnormality. More findings showed a large collateral artery originated from left lateral side of abdominal aorta. This collateral artery went upward to the LLLL and anastomosed directly with two large posterior segmental tributary of the left lung pulmonary veins. Hyper-vascular pattern of both lungs was also observed in the MRI.ConclusionThis condition should be suspected in any infant with recurrent respiratory distress, or in anyone with recurrent pneumonia. To avoid misdiagnosis, PS should be considered in differential diagnosis in infants with chronic cough and dyspnea.

Different Presentations of Patients with Transcobalamin II Deficiency: A Single-Center Experience from Turkey

Objective:Transcobalamin II deficiency is a rare autosomal recessive disease characterized by decreased cobalamin availability, which in turn causes accumulation of homocysteine and methylmalonic acid. The presenting clinical features are failure to thrive, diarrhea, megaloblastic anemia, pancytopenia, neurologic abnormalities, and also recurrent infections due to immune abnormalities in early infancy.Materials and Methods:Here, we report the clinical and laboratory features of six children with transcobalamin II deficiency who were all molecularly confirmed.Results:The patients were admitted between 1 and 7 months of age with anemia or pancytopenia. Unexpectedly, one patient had a serum vitamin B12 level lower than the normal range and another one had nonsignificantly elevated serum homocysteine levels. Four patients had lymphopenia, four had neutropenia and three also had hypogammaglobulinemia. Suggesting the consideration of transcobalamin II deficiency in the differential diagnosis of immune deficiency. Hemophagocytic lymphohistiocytosis was also detected in one patient. Furthermore, two patients had vacuolization in the myeloid lineage in bone marrow aspiration, which may be an additional finding of transcobalamin II deficiency. The hematological abnormalities in all patients resolved after parenteral cobalamin treatment. In follow-up, two patients showed neurological impairments such as impaired speech and walking. Among our six patients who were all molecularly confirmed, two had the mutation that was reported in transcobalamin II-deficient patients of Turkish ancestry. Also, a novel TCN2 gene mutation was detected in one of the remaining patients.Conclusion:Transcobalamin II deficiency should be considered in the differential diagnosis of infants with immunological abnormalities as well as cytopenia and neurological dysfunction. Early recognition of this rare condition and initiation of adequate treatment is critical for control of the disease and better prognosis.

Особливості перебігу та диференціальної діагностики хронічної діареї у дітей раннього віку

Особливості перебігу та диференціальної діагностики хронічної діареї у дітей раннього віку

Successful microsurgical treatment of intracranial aneurysms in infants: a retrospective study and literature review.

Intracranial aneurysms are extremely rare in infants, especially less than 1year old. This study aimed to analyze the frequency of infantile intracranial aneurysm in our department and investigate the clinical characteristics, treatment strategies, and outcomes of this disease. Six infants under 1year old in 4350 patients with intracranial aneurysms were retrospectively analyzed from January 2010 to December 2016. The patients (5 females and 1 male) ranged in age from 2 to 11 (mean age, 4.67) months. Four patients presented with generalized seizure and vomiting, 3 showed lethargy, 1 presented eye deviation, and 1 had right-sided hemiparesis. Radiographically, two aneurysms were localized in the middle cerebral artery (MCA) of the M2 segment, two were located in the M3 segment of MCA, one was located at left MCA bifurcation, and one was located at the nonbranching site of the left supraclinoid internal carotid artery. All these lesions were successfully managed with aneurysm clipping or resection, and the improvement of neurological deficits was achieved in all patients. Intracranial aneurysms should be considered in the differential diagnosis of infants who present with acute raised intracranial pressure. An improvement of neurological deficits is noted in infants who are managed promptly with microsurgical techniques of clipping during the long-term follow-up.

Infantile hemangioendothelioma of the liver in a Nigerian newborn: A case report

Hepatic hemangioendothelioma is the most common benign vascular tumor of the liver in infancy and it is the most likely of all hepatic tumors to present with symptoms early in life, presenting in the first 6 months of life. It may present with life-threatening complications such as congestive cardiac failure and thrombocytopenia. As a way of creating awareness to the existence of this rare condition in our environment, we report a case of symptomatic hemangioendothelioma in a newborn and challenges that can be encountered during management in a resource poor-setting. Baby OA is a 22-day-old female neonate who presented with an abdominal mass noted at birth. Diagnosis was made based on clinical findings and results of abdominal ultrasound scan and computerized tomography scan which were in keeping with a hepatic hemangioendothelioma. She was treated with oral prednisolone, propranolol, and aggressive supportive treatment with blood and platelet concentrate transfusions. Her management was hampered by challenges in obtaining a histologic diagnosis, financial constraints, and unavailability of wider therapeutic options. She has been discharged and is being followed-up at the out-patient clinics. Hemangioendothelioma should be considered in the differential diagnosis of infants presenting with an abdominal mass in the newborn period as it could be associated with significant morbidity and mortality requiring aggressive treatment and meticulous supportive care.

Coccidioidomycosis in infants: A retrospective case series.

In contrast to adults, coccidioidomycosis is a rare disease in infants and the mechanisms of disease acquisition are not well described in infants. The purpose of this study was to describe the clinical presentation, treatment, and outcome of pulmonary coccidioidomycosis in infants in an endemic area. We performed a retrospective observational study of all patients less than 12 months of age admitted to a tertiary free standing children's hospital from 2003-2012 diagnosed with coccidioidomycosis. Thirteen infants were hospitalized during the study period. The majority of the patients presented with upper and/or lower respiratory tract infection. The most common presenting symptoms included fever (77%), cough (61%), and respiratory distress (38%). Disseminated disease, included pericardial effusion, neck abscess, and lesions in the cerebellum, basal ganglia and left temporoparietal skull. Fluconazole was the initial, antifungal agent used. Amphotericin B was reserved for significant lung disease and disseminated cases. Failed response to fluconazole and amphotericin B were treated with a combination of voriconazole and caspofungin. Average length of treatment was 4 years. All patients survived to hospital discharge. The majority of the patients had resolution of chest radiograph and coccidiodal complement fixing antibody titers. Infant coccidioidomycosis has a non-specific presentation and can mimic common infant respiratory illnesses. In endemic areas, coccidioidomycosis should be considered in the differential diagnosis of infants with pulmonary symptoms unresponsive to conventional treatment. Pediatr Pulmonol. 2016;51:858-862. © 2016 Wiley Periodicals, Inc.

Melanotic Neuroectodermal Tumor of Infancy Presenting with Fast Growing Scrotal Swelling: A Case Report and Literature Review

Testicular melanotic neuroectodermal tumor of infancy (MNTI) is extremely rare, with 2 cases reported in the literature. Its rarity, rapid and infiltrative growth pattern pose a diagnostic challenge. A previously healthy 3-month old male, presented with a history of worsening left hemiscrotal swelling for one week. An outside ultrasound was suggestive of testicular torsion. Left orchiectomy demonstrated a mass occupying almost entire testicle with a variegated cut surface, with areas of pigmentation, necrosis and hemorrhage. Histological examination confirmed MNTI of the testis and epididymis. MNTI should be included in differential diagnosis in infants presenting with fast growing scrotal swelling.

Post-Vaccination Disseminated Bacillus Calmette Guerin Infection Among Children in Southern Iran.

Background:Disseminated bacillus calmette guerin (BCG) infection is a rare but life threatening complication of BCG vaccination. It has been mainly seen in severe immune deficiency. A precise and rapid diagnosis is crucial for prompt initiation of an aggressive anti-mycobacterial treatment. Polymerase chain reaction (PCR) is directly applicable to smear-positive clinical specimens, proven to be a rapid and specific diagnostic test.Objectives:The aim of this study was to investigate disseminated BCG infection among 34 children in southern Iran, mainly confirmed by PCR.Patients and Methods:We included all the patients hospitalized with disseminated BCG infection at a referral teaching hospital in southern Iran between years 1990 and 2007. The clinical and laboratory data including the immunological workups were obtained through a review of the medical files. We recalled all pathology samples from pathology specimen banks and used an in-house PCR specific for Mycobacterium bovis BCG substrain to confirm the diagnosis.Results:From the total of 34 children hospitalized with disseminated BCG infection, 21 were categorized as definite and 13 probable. Thirty-one patients (91%) were under two years of age and 41% were male. The most common clinical findings were fever in 31 (91.2%), axillary’s lymphadenopathy in 26 (76.5%), hepatosplenomegaly in 25 (73.5%), stunted growth in 21 (61.8%), and distant lymphadenopathy in 16 (47.1%). Polymerase Chain Reaction positivity rate was 100% (9 of 9) in bone marrow smear slides and 84.2% (16 of 19) for formalin-fixed and paraffin-embedded tissue specimens. Immunodeficiency state was detected in 50% and the overall mortality rate was 58.8% (20 of 34).Conclusions:Disseminated BCG infection should be considered in the differential diagnosis of infants and young children with fever, hepatosplenomegaly, lymphadenopathy, and history of BCG vaccination. The PCR method has a high positivity rate and can serve as a useful tool for the rapid and specific identification of M. bovis BCG substrain infection.

Pitfalls in Echocardiography: Coarctation of the Aorta Presenting as Dilated Cardiomyopathy (DCM).

Purpose: The morphologic spectrum of aortic coarctation extends from discrete isthmic obstruction to tubular hypoplasia of the entire aortic arch. Neonates with coarctation frequently present with congestive heart failure and critically reduced perfusion of the descending aorta following ductal closure. During the recent years we observed several infants with coarctation who presented beyond the neonatal period with dilated cardiomyopathy (DCM). We reviewed our patients with coarctation to determine whether this presentation represents an exception or is relevant for the differential diagnosis of children with DCM. Materials and Methods: From 1/2001 to 12/2013 74 babies with isolated coarctation were diagnosed in our institution. 50 patients presented in the neonatal period and 24 patients beyond the first month. Results: 5/74 infants presented after the neonatal period with poorly contractile, dilated left ventricles. Echocardiographic detection of the coarctation was facilitated by application of the ductal view and by Doppler interrogation of the celiac artery revealing a significantly diminished systolic flow velocity. All patients underwent resection of the coarctation and end-to-end anastomosis ofthe aorta. Postoperative normalization of left ventricular function was observed within a median interval of 2 months. Conclusion: Coarctation of the aorta presenting as DCM accounted for 21 % of our infants with coarctation who presented beyond the neonatal period and 7 % of those in the first year of life. The stenosis was difficult to detect because of its distal location and normal configuration of the aortic arch. Isthmic coarctation should be included in the differential diagnosis of infants with DCM and requires careful examination of the isthmic region in these children.