Case Reports in Pediatrics The latest articles from Hindawi Publishing Corporation © 2017 , Hindawi Publishing Corporation . All rights reserved. A Case of Neonatal Marfan Syndrome: A Management Conundrum and the Role of a Multidisciplinary Team Wed, 11 Jan 2017 07:47:29 +0000 Neonatal Marfan syndrome (nMFS) is a rare condition with a poor prognosis. It is genotypically and phenotypically distinct from the typical Marfan syndrome and carries a poorer prognosis. This case report describes the progression of a 14-month-old girl diagnosed with nMFS at 5 months of age. Her diagnosis followed the identification of a fibrillin-1 mutation (FBN1 gene, exon 26, chromosome 15), which is a common locus of nMFS. This patient developed severe cardiac complications resulting in congestive cardiac failure in early life and required major cardiac surgery. Since surgical intervention, our patient is still reliant on a degree of ventilator support, but the patient has gained weight and echocardiography has demonstrated improved left ventricular function and improved tricuspid and mitral valve regurgitation. Therefore, we argue the importance of a cautious multidisciplinary approach to early surgical intervention in cases of nMFS. Elliott J. Carande, Samuel J. Bilton, and Satish Adwani Copyright © 2017 Elliott J. Carande et al. All rights reserved. Rectal Bleeding and Abdominal Pain Following Vaccination in a 4-Month-Old Infant Mon, 09 Jan 2017 11:31:43 +0000 Intussusception is one of the most frequent causes of intestinal obstruction in infants. Rotavirus vaccination has been associated with intussusception in the medical literature. We report a case of a 4-month-old female with intussusception requiring hemicolectomy one week following rotavirus vaccination. We review the pathophysiology, presentation, and management of intussusception with a distinct focus on the history of rotavirus vaccination and risks of intussusception associated with timing of rotavirus vaccine administration. The discussion makes a strong case for rotavirus vaccine counseling regarding signs of intestinal obstruction and the importance of early recognition. Jaclyn Otero, Molly R. Posa, and Maria N. Kelly Copyright © 2017 Jaclyn Otero et al. All rights reserved. Management Challenges in a Child with Chronic Hyponatremia: Use of V2 Receptor Antagonist Mon, 09 Jan 2017 00:00:00 +0000 Chronic hyponatremia is very rare in children and is often seen in the setting of congestive heart failure or liver failure in adults. Here, we report an 8-year-old child with hypothalamic glioma who presented with severe hyponatremia. Initial management consisted of fluid restriction. This was very difficult for the child to follow and the child developed bizarre drinking habits requiring intervention from child psychiatry. So therapy was initiated with low dose V2 receptor antagonist under close inpatient monitoring. While initial response was reassuring, her sodium levels tended to drift down with longer duration of treatment requiring us to increase the dose frequently. Her response to therapy and her stable clinical situation off therapy suggest that she may have reset osmostat. Sowmya Krishnan, Swapna Deshpande, Ashwini Mallappa, Gunda Divya, Pascale Lane, Anu Vishwanath, and Rene Y. McNall-Knapp Copyright © 2017 Sowmya Krishnan et al. All rights reserved. Antituberculosis Drug-Induced Liver Injury with Autoimmune Features: Facing Diagnostic and Treatment Challenges Mon, 02 Jan 2017 07:36:06 +0000 The authors present a case report of antituberculosis drug-induced liver injury that offered diagnostic challenges (namely, the possibility of drug-induced autoimmune hepatitis) and treatment difficulties. Maria Adriana Rangel, Isabel Pinto Pais, Raquel Duarte, and Isabel Carvalho Copyright © 2017 Maria Adriana Rangel et al. All rights reserved. Neonatal Sacrococcygeal Neuroblastoma Mimicking a Teratoma Sun, 01 Jan 2017 11:16:17 +0000 We reported the first case of a congenital intrapelvic presacral neuroblastoma in Puerto Rico managed in the early neonatal period. The preoperative diagnosis was a sacrococcygeal teratoma Altman stage IV classification. This case confirms the importance of a comprehensive physical examination and observation of low-risk newborn infants with a history of adequate prenatal care and an unremarkable fetal ultrasonogram during pregnancy. Leticia Gely, Humberto Lugo-Vicente, María Correa-Rivas, Kary Bouet, Zayhara Reyes Bou, Mohammed Suleiman, and Inés García Copyright © 2017 Leticia Gely et al. All rights reserved. Mixed Botryoid and Spindle Cell Bladder Rhabdomyosarcoma: An Outstanding Pediatric Case Sun, 01 Jan 2017 10:00:49 +0000 We report a case of a 3-year-old North African child, initially assessed for nonspecific urinary symptoms such as haematuria and burning urination. The ultrasound evaluation showed a vegetating mass occupying the lumen with weak vascular signs at the Colour-Doppler evaluation. An explorative cystoscopy was performed and it revealed a nonbleeding lesion, white in colour, pedunculated, projecting into the lumen, and associated with a brown satellite formation. Histological examination showed a mixed Botryoid and Spindle Cell Rhabdomyosarcoma. This mixed histology has not been described before and no statistical data are reported in literature so far. Despite the Embryonal Rhabdomyosarcoma variant being the most common, the association characterized by two histological Rhabdomyosarcoma subtypes such as Botryoid and Spindle Cell is rarely observed and it is important to get an accurate histological diagnosis in order to immediately start the correct treatment protocol. Tommaso Alterio, Roberto Chimenz, Salvatore Arena, Giovanni Conti, Sabrina Cardile, Carmelo Romeo, Carmelo Salpietro, and Carmelo Fede Copyright © 2017 Tommaso Alterio et al. All rights reserved. Schwannoma Localized Retroperitoneally in a 14-Year-Old Boy Sun, 18 Dec 2016 09:55:39 +0000 Schwannomas usually occur in adults being between the second and fifth decades, and such neoplasms are extremely rare in a pediatric population. In addition, they are not normally found in the retroperitoneal region. Here, we present a pediatric case of a retroperitoneal schwannoma in an adrenal location where the tumor was not able to be preoperatively differentiated from other benign or malign adrenal gland tumors. In our opinion, this tumor can be included in the differential diagnosis of a nonfunctioning retroperitoneal adrenal mass in children. Hasan Cayirli, Halil Ibrahim Tanriverdi, Ali Aykan Ozguven, Cuneyt Gunsar, Betul Ersoy, and Ali Riza Kandiloglu Copyright © 2016 Hasan Cayirli et al. All rights reserved. The “Pearls” of Multidisciplinary Team: Conquering the Uncommon Rosette Rash Tue, 13 Dec 2016 09:34:47 +0000 Linear IgA disease of childhood (LAD) also known as chronic bullous disease of childhood is an autoimmune disease with IgA deposition at the basement membrane zone leading to a vesiculobullous rash. It has a clinical appearance which frequently is described as resembling “strings of pearls” or rosette-like. Diagnosis is usually clinical but sometimes biopsy is required. Dapsone is widely considered to be the first line therapy in the treatment of LAD. A 5-year-old girl presented with 4-day history of a widespread painful rash and pyrexia. The rash transformed into painful blisters. A recent contact with chickenpox was present. She remained apyrexial but hemodynamically stable and was treated as chickenpox patient with secondary infection. Due to persistent symptoms after repeated attendance she was reviewed by Dermatology team and diagnosed with linear IgA disease also known as chronic bullous disease of childhood. This was based on the presence of blistering rash with rosette appearance and string of pearl lesions. The clinical features of LAD can be difficult to distinguish from more common skin infections. Benefiting from the experience of other multidisciplinary teams can sometimes be a game changer and can lead to the correct diagnosis and treatment. Nitin Verma, Charles Pickles, and Muhammad Amjad Khan Copyright © 2016 Nitin Verma et al. All rights reserved. Enhancing Mass Lesion of the Sphenoid: Atypical Presentation of Ongoing Pneumatization Mon, 12 Dec 2016 07:06:24 +0000 Sinus pneumatization is a complex variable process that begins in early life and continues for many years. We present a case of a 6-year-old boy with progressive headaches and neurologic symptoms suggestive of intracranial pathology. The presence of enhancing tissue within the sphenoid sinus created a diagnostic dilemma which leads to a transsphenoidal biopsy. Knowledge of imaging characteristics associated with incomplete pneumatization can help differentiate it from more ominous skull base pathology and prevent unnecessary testing. We describe four-year imaging follow-up in a patient with incomplete pneumatization of the sphenoid sinus presenting as an enhancing mass lesion with subsequent follow-up imaging demonstrating gradual regression and increased aeration of the sphenoid sinus. Deepak Vallabhaneni, Anthony Mohamed, Zain Badar, and Rajiv Mangla Copyright © 2016 Deepak Vallabhaneni et al. All rights reserved. Infantile Cortical Hyperostosis: Report of a Case with Observations on Clinical Manifestations, Radiology, and Pathology with a Late Follow-Up of Eight Years Tue, 06 Dec 2016 11:00:33 +0000 Purpose. The purpose of our study was to investigate clinical manifestations, roentgen images, histopathological studies, and evolution of the disease in patient displaying infantile cortical hyperostosis. Methods. Roentgenograms were made to evaluate a neonatal patient presenting multiple soft-tissue swellings. The initial radiographs insinuated that the disease had been present for some time in utero. Bone puncture biopsy of the tibia for histopathological observation and diagnosis conclusions was performed. Results. The disease was demonstrated radiographically by massive cortical diaphyseal thickening and also extensive periosteal new bone formation surrounding several bones. Results in blood count were as follows: discrete anemia, moderate leukocytosis, and elevated sedimentation rate. Histological pattern of tissue removed from tibia showed lamellar cortical bones and hyperplasia. Biopsy studies disclosed no evidence of neoplasia as well as of bacterial infection. Comments. Clinical manifestations in a neonatal patient displaying infantile cortical hyperostosis have gradually decreased. Radiograph findings have demonstrated complete recovery of bones manifested by the disease. The pathologic findings are in accordance with previous microscopic examination summarized by the literature. Total patient cure, without sequels, could be demonstrated. Pedro Carlos M. Sarmento Pinheiro, Ierecê Lins Aymore, Armando Rocha Amoedo, and Paulo Miguel Hemais Copyright © 2016 Pedro Carlos M. Sarmento Pinheiro et al. All rights reserved. A Rare Case of Clavicle Osteomyelitis in a Child and Literature Review Mon, 05 Dec 2016 13:47:16 +0000 Acute clavicle osteomyelitis in children is rare representing <3% of osteomyelitis cases. We treated a 12-year-old boy who presented with acute pain in the right clavicle and high fever for 4 days. MRI showed abnormal signal in the right clavicle with periosteal reaction. Staphylococcus aureus isolated from blood was susceptible to methicillin, clindamycin, and macrolides. Clindamycin was given intravenously for 3 wks and orally for another 3 wks with no recurrence. We reviewed clavicle osteomyelitis cases in children searching PubMed English literature. From a total of 89 studies retrieved, only 6 fulfilled the criteria and were analyzed. Sixteen patients (56% female) were included with a median age of 9 yrs (range 2 wks–16 yrs). Osteomyelitis was hematogenous in most cases, with S. aureus being the most frequent cause, isolated from either blood or tissue. Symptoms included fever, swelling, and localized bone tenderness. Antimicrobial therapy lasted for 4–12 weeks (median 7.5). Three patients required drainage or curettage. Recurrence occurred in 1/16 cases (6.2%) and persistence of symptoms occurred to 2/16 cases (12.5%) reported before 90s with unknown antimicrobial susceptibility of the pathogen. Acute clavicle osteomyelitis mainly affects older children and has generally good prognosis. Staphylococcus aureus is most commonly implicated and surgery may be needed. Elisavet-Anna Chrysochoou, Charalampos Antachopoulos, Konstantinos Badekas, and Emmanuel Roilides Copyright © 2016 Elisavet-Anna Chrysochoou et al. All rights reserved. A 14-Year-Old Boy with Unusual Presentation of Respiratory Distress Thu, 01 Dec 2016 09:32:57 +0000 There are multiple cardiac etiologies for wheezing and respiratory distress which require a high degree of suspicion for the pediatrician to diagnose. We present a case of a patient with a history of long-standing mild persistent asthma with minimal improvement on controller and bronchodilator therapies who presented to the emergency room with acute respiratory distress. When he demonstrated a lack of improvement with traditional respiratory therapies, additional etiologies of respiratory distress were considered. Ultimately an echocardiogram was performed, which revealed the diagnosis of cor triatriatum. He underwent surgical resection of his accessory membrane and has had no additional symptoms of asthma since repair. Adam W. Powell, Samuel Hanke, James S. Tweddell, and Nicolas Madsen Copyright © 2016 Adam W. Powell et al. All rights reserved. Childhood Hypopigmented Mycosis Fungoides: A Rare Diagnosis Tue, 29 Nov 2016 07:32:07 +0000 Primary cutaneous lymphomas (PCL) are rare in pediatrics. Mycosis fungoides (MF) is the most frequent PCL diagnosed in childhood. There are various clinical variants of MF, including the hypopigmented MF (HMF). We present a 5-year-old boy with an 18-month history of progressive, generalized, nonpruritic hypopigmented lesions with central lacy erythema. He had no improvement with emollients. Skin biopsy showed typical features of HMF. He was treated with topical corticosteroids and tacrolimus and narrow-band ultraviolet B (NBUVB) phototherapy, with good response. HMF may mimic multiple skin disorders. Unusual hypopigmented skin lesions should be biopsied. Though phototherapy is effective, recurrence is common. Cláudia Patraquim, Maria Miguel Gomes, Carla Garcez, Filipa Leite, Tereza Oliva, António Santos, and Armando Pinto Copyright © 2016 Cláudia Patraquim et al. All rights reserved. Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations Mon, 28 Nov 2016 14:23:48 +0000 Stickler syndrome or hereditary progressive arthroophthalmopathy is a heterogeneous group of collagen tissue disorders, characterized by orofacial features, ophthalmological features (high myopia, vitreoretinal degeneration, retinal detachment, and presenile cataracts), hearing impairment, mild spondyloepiphyseal dysplasia, and/or early onset arthritis. Stickler syndrome type I (ocular form) is caused by mutation in the COL2A1 gene. Ptosis and uveitis are relatively rare ophthalmological manifestations of this syndrome. We report an Indian boy having 2710C>T mutation in COL2A1 gene demonstrating short stature, ptosis, and uveitis with Stickler syndrome. Manisha Goyal, Seema Kapoor, Shiro Ikegawa, and Gen Nishimura Copyright © 2016 Manisha Goyal et al. All rights reserved. Anterior Hypopituitarism and Treatment Response in Hunter Syndrome: A Comparison of Two Patients Mon, 28 Nov 2016 11:48:20 +0000 Hypopituitarism is a clinically important diagnosis and has not previously been reported in Hunter syndrome. We contrast two cases with anatomic pituitary anomalies: one with anterior panhypopituitarism and the other with intact pituitary function. Patient 1, a 10-year-old boy with Hunter syndrome, was evaluated for poor growth and an ectopic posterior pituitary gland. Endocrine testing revealed growth hormone (GH) deficiency, secondary adrenal insufficiency, and tertiary hypothyroidism. An improvement in growth velocity with hormone replacement (GH, thyroxine, and corticosteroid) was seen; however, final adult height remained compromised. Patient 2, a 13-year-old male with Hunter syndrome, was evaluated for growth failure. He had a large empty sella turcica with posteriorly displaced pituitary. Functional endocrine testing was normal and a trial of GH-treatment yielded no significant effect. Panhypopituitarism associated with pituitary anomalies has not been previously reported in Hunter syndrome and was an incidental finding of significant clinical importance. In the setting of documented anterior hypopituitarism, while hormone replacement improved growth velocity, final height remained impaired. In patient 2 with equivocal GH-testing results, treatment had no effect on linear growth. These cases highlight the importance of careful clinical assessment in Hunter syndrome and that judicious hormone replacement may be indicated in individual cases. Munier A. Nour, Paola Luca, David Stephure, Xing-Chang Wei, and Aneal Khan Copyright © 2016 Munier A. Nour et al. All rights reserved. From Benign to Malign in a Case of Cervical Adenopathy in a 17-Year-Old Adolescent: Diagnostic Traps Sun, 27 Nov 2016 10:03:37 +0000 Distinguishing between benign and malign adenopathies remains a challenge and could represent a source of error in a diagnosis. We report a case of right laterocervical adenopathy in a 17-year-old teenager admitted to hospital with an episode of fever associated with dysphagia, congested pharynx, and pultaceous deposits. Initially the adenopathy was considered to be secondary to a coinfection with Streptococcus B-hemolytic and Epstein-Barr virus, as suggested by the positive bacteriological and serological tests. The onset of the adenopathy before the episode and the ultrasound modifications raised the suspicion of a malignancy, later confirmed by the histopathologic examination of the lymph node excision. The final diagnosis was nodal metastasis of an undifferentiated lymphoepithelial carcinoma with an ENT starting point. Currently, the adolescent is hospitalised in the ENT ward, where the pharynx carcinoma with nodal metastasis was confirmed. Sometimes the infectious context can mask or unmask a malign chronic disease with insidious evolution. Simona Dumitra, Maria Trailescu, Amelia Burlea, Claudia Covaci, Ozana Balan, Adrian Pavel, and Carmen Crișan Copyright © 2016 Simona Dumitra et al. All rights reserved. Fetal Valproate Syndrome with Limb Defects: An Indian Case Report Thu, 24 Nov 2016 14:10:39 +0000 Epilepsy is a common disorder and exposure to antiepileptic drugs during pregnancy increases the risk of teratogenicity. Older AEDs such as valproate and phenobarbital are associated with a higher risk of major malformations in the fetus than newer AEDs like lamotrigine and levetiracetam. Exposure to valproic acid during first trimester can result in fetal valproate syndrome (FVS), comprising typical facial features, developmental delay, and a variety of malformations such as neural tube defects, cardiac and genitourinary malformations, and limb defects. We are presenting an Indian case of FVS with major limb defects. Manisha Goyal, Ashok Gupta, Manish Sharma, Priyanshu Mathur, and Naresh Bansal Copyright © 2016 Manisha Goyal et al. All rights reserved. Torsion of a Communicating Hydrocele Presented as Acute Scrotum: A Case Report and Literature Review Thu, 24 Nov 2016 13:24:26 +0000 Torsion of a communicating hydrocele is extremely rare, and the cause is unclear. We report the case of a 3-year-old boy referred to us with acute scrotum. Operative findings revealed torsion of a communicating hydrocele with a 360-degree rotation of the distal end. We performed surgical excision of the necrotic cystic mass and high ligation of the peritoneal communication. A high index of suspicion is required for the correct diagnosis and treatment of this condition, which should be included among the causes of acute scrotum in childhood. Ivonete Siviero, Ivens Baker Méio, Saulo Marcos Rebello Ferrante, Danielle Nunes Forny, and André Lima da Cunha Copyright © 2016 Ivonete Siviero et al. All rights reserved. Congenital Hypothyroidism: An Unusual Combination of Biochemical Abnormalities Tue, 22 Nov 2016 13:31:15 +0000 A forty-five-day-old female infant presented with prolonged jaundice with clinical features suggestive of congenital hypothyroidism (CHT). On investigations, the infant was noted to have indirect hyperbilirubinemia (13.8 mg/dl) with increased levels of AST (298 IU/dl) and ALT (174 IU/dl) in the serum. The child had low levels of free T3 (<1 pg/ml) and free T4 (0.4 ng/dl) secondary to thyroid agenesis detected on radionuclide scan and ultrasonography of the neck and raised levels of TSH (>500 microIU/ml) in the serum. The combination of indirect hyperbilirubinemia and raised levels of hepatic transaminases has not been reported in babies with CHT. Following institution of oral thyroxin therapy, the serum bilirubin levels ameliorated (2.9 mg/dl) considerably by 15 days of therapy and the serum levels of AST (40 IU/dl) and ALT (20 IU/dl) got normalized. The case demonstrates that raised levels of hepatic transaminases can occur in infants with CHT and these can resolve just with thyroxin therapy, obviating the need for extensive investigative laboratory work-up. Ruchi Mantri, S. B. Bavdekar, and Sushma U. Save Copyright © 2016 Ruchi Mantri et al. All rights reserved. Dilated Cardiomyopathy Induced by Chronic Starvation and Selenium Deficiency Tue, 22 Nov 2016 13:31:01 +0000 Protein energy malnutrition (PEM) has been rarely documented as a cause of cardiovascular abnormalities, including dilated cardiomyopathy. Selenium is responsible for antioxidant defense mechanisms in cardiomyocytes, and its deficiency in the setting of PEM and disease related malnutrition (DRM) may lead to exacerbation of the dilated cardiomyopathy. We report a rare case of a fourteen-year-old boy who presented with symptoms of congestive heart failure due to DRM and PEM (secondary to chronic starvation) along with severe selenium deficiency. An initial echocardiogram showed severely depressed systolic function consistent with dilated cardiomyopathy. Aggressive nutritional support and replacement of selenium and congestive heart failure medications that included diuretics and ACE inhibitors with the addition of carvedilol led to normalization of the cardiac function within four weeks. He continues to have significant weight gain and is currently completely asymptomatic from a cardiovascular standpoint. Soham Dasgupta and Ashraf M. Aly Copyright © 2016 Soham Dasgupta and Ashraf M. Aly. All rights reserved. Bronchial Foreign Body Alerting of a Bronchial Tumor: The Need of a Follow-Up Radiography Tue, 22 Nov 2016 11:15:34 +0000 Lung tumors are extremely rare in the pediatric population, comprising only 0.2% of all malignancies in children. Among them, mucoepidermoid carcinoma (MEC) is even rarer with a reported frequency of 0.1% to 0.2%. MEC is defined by the World Health Organization as a tumor characterized by a combination of mucus-secreting, squamous, and intermediate cell types. We describe the case of a 4-year-old girl who presented with a history of intermittent fever and nonproductive cough of 1-month duration after foreign body aspiration. The chest X-ray showed complete collapse of the left lung. After removal of the foreign body, the lung expanded well after. However, the control chest X-ray done after 5 days showed again complete collapse of the left lung. The biopsy specimen taken during bronchoscopy confirmed the diagnosis of low-grade MEC. Fluorescence in situ hybridization (FISH) confirmed the presence of MAML2 rearrangement. Complete surgical resection with preservation of lung parenchyma was performed. No adjuvant therapy was needed. Repeat bronchoscopy was performed 2 months after surgery and showed no recurrence of the tumor. In conclusion, a remote chest X-ray after removal of a foreign body is necessary to avoid missing a rare serious underlying disease such as MEC. According to the size and the location of the tumor, complete surgical removal is sufficient without additional treatment in case of low-grade tumor. The presence of MAML2 rearrangement confers a favorable outcome and may have long-term implications for the clinical management. Nahida El-Rifai, Samar Shahine, Hassan Sidani, Ali Sabeh Aion, Antoine Deschildre, and Marie-Christine Copin Copyright © 2016 Nahida El-Rifai et al. All rights reserved. Human Herpesvirus 6 Infection Presenting as an Acute Febrile Illness Associated with Thrombocytopenia and Leukopenia Thu, 17 Nov 2016 09:17:21 +0000 We present an infant with acute fever, thrombocytopenia, and leukopenia, coming from an endemic region for tick-borne encephalitis, human granulocytic anaplasmosis, and hantavirus infection. The primary human herpesvirus 6 infection was diagnosed by seroconversion of specific IgM and IgG and by identification of viral DNA in the acute patient’s serum. The patient did not show skin rash suggestive of exanthema subitum during the course of illness. Maja Arnež, Tatjana Avšič-Županc, Tina Uršič, and Miroslav Petrovec Copyright © 2016 Maja Arnež et al. All rights reserved. Anomalous Origin of the Left Common Carotid Artery from the Main Pulmonary Artery: A Rare Association in an Infant with CHARGE Syndrome Wed, 16 Nov 2016 08:43:02 +0000 Case Report. Isolated carotid artery originating from the pulmonary trunk is an exceedingly rare anomalous origin of head and neck vessels. We present this finding, along with a persistent embryonic trigeminal artery, in a male infant with multiple cardiac defects and other congenital anomalies associated with CHARGE syndrome. After extensive investigations, cardiac catheterization revealed the anomalous left common carotid artery arising from the cranial aspect of the main pulmonary artery. There was retrograde flow in this vessel, resulting from the lower pulmonary pressure, essentially stealing arterial supply from the left anterior cerebral circulation. The persistent left-sided trigeminal artery provided collateral flow from the posterior circulation to the left internal carotid artery territory, allowing for safe ligation of the anomalous origin of the left common carotid artery, thereby reversing the steal of arterial blood flow into the pulmonary circulation and resulting in a net improvement of cerebral perfusion. Conclusion. The possibility of this vascular anomaly should be considered in all infants with CHARGE syndrome. Surgical repair or ligation should be tailored to the specific patient circumstances, following a careful delineation of all sources of cerebral perfusion. Onyekachukwu Osakwe, Blaise Jones, and Russel Hirsch Copyright © 2016 Onyekachukwu Osakwe et al. All rights reserved. Hemorrhagic Lacrimation and Epistaxis in Acute Hemorrhagic Edema of Infancy Mon, 14 Nov 2016 08:54:47 +0000 Acute hemorrhagic edema of infancy is an uncommon benign cutaneous vasculitis. Despite its worrisome presentation, it carries good prognosis with rarely reported systemic involvement. Management of these cases has been an area of debate with majority of physicians adopting conservative modalities. We report a case that presented with classic triad of rash, low grade fever, and peripheral edema along with two rarely reported manifestations in literature: hemorrhagic lacrimation and epistaxis. Shireen Mreish and Hossam Al-Tatari Copyright © 2016 Shireen Mreish and Hossam Al-Tatari. All rights reserved. Two Different Life-Threatening Cases: Presenting with Torticollis Sun, 13 Nov 2016 08:23:32 +0000 Acquired torticollis can be the result of several different pathological mechanisms. It is generally related to trauma, tumors, and inflammatory processes of the cervical muscles, nerves, and vertebral synovia. Although upper respiratory tract and neck inflammation are common causes of acute febrile torticollis in children, diseases with as yet undefined relationships may also result in torticollis. This is the case of spinal arachnoid cyst and pneumonia. Gülsüm Alkan, Melike Emiroğlu, and Ayşe Kartal Copyright © 2016 Gülsüm Alkan et al. All rights reserved. Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports Thu, 10 Nov 2016 12:09:56 +0000 Both CHARGE syndrome and DiGeorge anomaly are frequently accompanied by cardiovascular malformations. Some specific cardiovascular malformations such as interrupted aortic arch type B and truncus arteriosus are frequently associated with 22q11.2 deletion syndrome, while conotruncal defects and atrioventricular septal defects are overrepresented in patients with CHARGE syndrome. CHD7 gene mutation is identified in approximately two-thirds of patients with CHARGE syndrome, and chromosomal microdeletion at 22q11.2 is found in more than 95% of patients with 22q11.2 deletion syndrome. CHARGE syndrome is occasionally accompanied by DiGeorge phenotype. We report two patients with dysmorphic features of both CHARGE syndrome and 22q11.2 deletion syndrome. Although both of the two cases did not have 22q11.2 deletion, they had typical dysmorphic features of 22q11.2 deletion syndrome including cardiovascular malformations such as interrupted aortic arch type B. They also had characteristic features of CHARGE syndrome including ear malformation, genital hypoplasia, limb malformation, and endocrinological disorders. CHD7 gene mutation was confirmed in one of the two cases. When a patient with cardiovascular malformations frequently associated with 22q11.2 deletion syndrome does not have 22q11.2 deletion, we suggest that associated malformations characteristic of CHARGE syndrome should be searched for. Kazushi Yasuda, Eiji Morihana, Naoki Fusazaki, and Shiro Ishikawa Copyright © 2016 Kazushi Yasuda et al. All rights reserved. Case Report of a Child after Hematopoietic Cell Transplantation with Acute Aspergillus Tracheobronchitis as a Cause for Respiratory Failure Wed, 09 Nov 2016 13:09:41 +0000 Rapid respiratory failure due to invasive mycosis of the airways is an uncommon presentation of Aspergillus infection, even in immunocompromised patients, and very few pediatric cases have been reported. Patients with Aspergillus tracheobronchitis present with nonspecific symptoms, and radiologic studies are often noninformative, leading to a delay in diagnosis. Prompt initiation of adequate antifungal therapies is of utmost importance to improve outcome. We report the case of a 9-year-old girl with chronic myelogenous leukemia who developed respiratory distress 41 days after hematopoietic cell transplantation and rapidly deteriorated despite multiple interventions and treatment modalities. Stefanie Gauguet, Kate Madden, Jennifer Wu, Christine Duncan, Gi Soo Lee, Tonya Miller, William C. Klingensmith IV, Sandra K. Burchett, and Meredith van der Velden Copyright © 2016 Stefanie Gauguet et al. All rights reserved. A Rare Case Report of Thoracic Ectopia Cordis: An Obstetrician’s Point of View in Multidisciplinary Approach Wed, 09 Nov 2016 09:54:34 +0000 Ectopia cordis is a rare congenital anomaly associated with the heart positioned outside of the thoracic cavity either partially or completely. It can be associated with other congenital abnormalities. Overall, the prognosis for infants with ectopia cordis is very poor but depends greatly on the type and severity of ectopia cordis and intracardiac and associated malformations. We present one case of a fetus with prenatally diagnosed thoracic ectopia cordis with intracardiac defects and omphalocele, all the abnormalities seen in pentalogy of Cantrell except a diaphragmatic defect. Considering poor prognosis for fetus, conservative management of prenatal care has been chosen. At the 42nd gestational week, during the active stage of labor, due to fetal distress, cesarean section was performed at a tertiary level hospital. The condition of the infant was impairing rapidly and the newborn succumbed within 24 hours. We discuss the perinatal care concerning this rare anomaly. Diana Ramasauskaite, Vilija Snieckuviene, Viktorija Zitkute, Ramune Vankeviciene, Dalia Lauzikiene, and Grazina Drasutiene Copyright © 2016 Diana Ramasauskaite et al. All rights reserved. Rhabdomyolysis in a Hospitalized 16-Year-Old Boy: A Rarely Reported Underlying Cause Tue, 08 Nov 2016 12:50:17 +0000 Rhabdomyolysis can occur because of multiple causes and account for 7% of all cases of acute kidney injury annually in the United States. Identification of specific cause can be difficult in many cases where multiple factors could potentially cause rhabdomyolysis. We present a case of 16-year-old male who had seizures and was given levetiracetam that resulted in rhabdomyolysis. This side effect has been rarely reported previously and like in our case diagnosis may be delayed. Rishika Singh, Dilip R. Patel, and Sherry Pejka Copyright © 2016 Rishika Singh et al. All rights reserved. Persistent Tachypnea and Alveolar Hemorrhage in an Infant: An Unexpected Etiology Tue, 08 Nov 2016 12:27:24 +0000 Persistent tachypnea and failure to thrive during infancy have a broad differential diagnosis which includes pulmonary and cardiovascular disorders. Diffuse alveolar hemorrhage (DAH) is a rare entity in children. DAH requires an extensive work-up as certain conditions may need chronic therapy. Cardiovascular disorders are included in the etiology of DAH. We present a case of an 8-month-old female with a moderate, restrictive patent ductus arteriosus (PDA) admitted to the hospital with respiratory distress and failure to thrive. An extensive work-up into tachypnea including multiple echocardiograms did not find an etiology. Open lung biopsy was performed and consistent with pulmonary hypertension. After closure of the PDA, patient’s tachypnea improved, and she was discharged home with periodic follow-up showing a growing, thriving child. When an infant presents with tachypnea, a respiratory viral illness is often a common cause. The diagnosis of persistent tachypnea requires further investigation. Echocardiography, although readily available, may not always be sensitive in detecting clinically significant pulmonary hypertension. A clinician must have a heightened index of suspicion to proceed in evaluating for causes of tachypnea with a nonrespiratory etiology. John Bishara, Angela Webb, Christina Valsamis, Claudia Halaby, and Melodi Pirzada Copyright © 2016 John Bishara et al. All rights reserved.