Case Reports in Pediatrics The latest articles from Hindawi Publishing Corporation © 2016 , Hindawi Publishing Corporation . 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. Severe Hiatal Hernia as a Cause of Failure to Thrive Discovered by Transthoracic Echocardiogram Tue, 08 Nov 2016 10:45:37 +0000 A newborn infant with failure to thrive presented for murmur evaluation on day of life three due to a harsh 3/6 murmur. During the evaluation, a retrocardiac fluid filled mass was seen by transthoracic echocardiogram. The infant was also found to have a ventricular septal defect and partial anomalous pulmonary venous return. Eventually, a large hiatal hernia was diagnosed on subsequent imaging. The infant ultimately underwent surgical repair of the hiatal hernia at a tertiary care facility. Hiatal hernias have been noted as incidental extracardiac findings in adults, but no previous literature has documented hiatal hernias as incidental findings in the pediatric population. Clint J. Moore, Devan A. Conley, Cristóbal S. Berry-Cabán, and Ryan P. Flanagan Copyright © 2016 Clint J. Moore et al. All rights reserved. Endobronchial Carcinoid and Concurrent Carcinoid Syndrome in an Adolescent Female Tue, 08 Nov 2016 08:38:24 +0000 Endobronchial carcinoid tumors are the most common intrabronchial tumors in children and adolescents. Common signs and symptoms include persistent cough and wheezing not responsive to bronchodilators, hemoptysis, and recurrent fever. Diagnosis is frequently made by imaging and direct visualization with flexible bronchoscopy; surgery remains the gold standard treatment, and lung-sparing resections should be performed whenever possible. Though carcinoid syndrome—characterized by flushing, palpitations, wheezing, shortness of breath, and diarrhea—has been found in association with adult bronchial carcinoid tumors, to our knowledge only one previous study has reported the presence of carcinoid syndrome in a pediatric patient with an endobronchial carcinoid. Here, we report a case of a 14-year-old girl with chronic cough found to have an endobronchial carcinoid tumor and signs and symptoms consistent with carcinoid syndrome. Jonathan D. Cogen, Jonathan Swanson, and Thida Ong Copyright © 2016 Jonathan D. Cogen et al. All rights reserved. Multiple Gastric Erosion Early after a 3 V Lithium Battery (CR2025) Ingestion in an 18-Month-Old Male Patient: Consideration about the Proper Time of Intervention Mon, 07 Nov 2016 12:27:02 +0000 Introduction. Button battery ingestion is considered an emergency situation in pediatric patients that needs to be managed promptly; otherwise, it may lead to serious and potentially lethal complications, especially when it is impacted in the esophagus. Less attention has been given in cases where the battery passes into the stomach, with guidelines for emergency intervention being based on the presence of symptoms. Case Report. We present a case of an 18-month-old male patient who presented to our emergency department after button battery ingestion. He did not have any symptoms and no pathological findings were encountered during clinical examination. X-ray investigation revealed the presence of the battery in the stomach. The patient was admitted for observation and two hours later he had two episodes of vomiting. He underwent urgent endoscopic removal of the battery where multiple acute gastric mucosal erosion in place of direct contact of the battery’s negative pole with the mucosa of the gastric antrum was found. Conclusion. In specific cases the urgent endoscopic intervention for removal of an ingested button battery that is located in the stomach even in asymptomatic patients should be suggested. Ioannis Patoulias, Christos Kaselas, Dimitrios Patoulias, Konstantinos Farmakis, Eleni Papacrivou, Maria Kalogirou, and Thomas Feidantsis Copyright © 2016 Ioannis Patoulias et al. All rights reserved. Becker’s Nevus Syndrome in a Pediatric Female Patient Sun, 06 Nov 2016 14:27:08 +0000 Becker’s nevus syndrome is part of the epidermal nevus syndromes and has been described with a phenotype that includes Becker’s nevus, ipsilateral breast hypoplasia, and variable skeletal malformations. It is more frequent in males than in females (5 : 1) but is more relevant in females. The diagnosis is clinically based and the skin lesion must be present and no other numbered criteria have been established, but with more criteria being present the possibility of the diagnosis is higher. Regarding the treatment of breast hypoplasia, the use of antiandrogen medication has demonstrated adequate clinical response in a dose of 50 mg/day of spironolactone. Sara Hernandez-Quiceno, Esteban Uribe-Bojanini, Juan Jose Ramírez-Jiménez, Maria Victoria Lopera-Cañaveral, Martin Toro-Ramos, Yuri Usuga-Arcila, Luis Correa-Londoño, Juan Camilo Martinez, Jennifer Monroy, and Juan Manuel Alfaro Copyright © 2016 Sara Hernandez-Quiceno et al. All rights reserved. A Teenage Girl with Acute Dyspnea and Hypoxemia during Red Blood Cell Transfusion Sun, 06 Nov 2016 13:57:15 +0000 Transfusion-related acute lung injury (TRALI) can cause morbidity and mortality. We present the case of teenager who developed dyspnea and hypoxemia few hours after red cell transfusion. After being admitted for close monitoring and oxygen therapy, her symptoms spontaneously resolved. Message: dyspnea during red cell transfusion should raise the suspicion of TRALI. U. Pandee, P. Tanpowpong, and P. Thongpo Copyright © 2016 U. Pandee et al. All rights reserved. Lung Ultrasound in Early Diagnosis of Neonatal Ventilator Associated Pneumonia before Any Radiographic or Laboratory Changes Sun, 06 Nov 2016 12:07:52 +0000 Neonatal pneumonia is reported to be the primary cause of neonatal respiratory failure and one of the common causes of neonatal hospitalization and death in developing countries. Chest X-ray was considered the gold standard for diagnosis of neonatal pneumonia. Lung ultrasonography has been described as a valuable noninvasive tool for the diagnosis of many neonatal pulmonary diseases. We report a case of ventilation associated neonatal pneumonia with very early diagnosis using lung ultrasound before any significant radiographic changes in chest X-ray or laboratory findings suggestive of infection. Mohammed Ibrahim, Ahmed Omran, Mostafa Ibrahim, Nouran Bioumy, and Sonya El-Sharkawy Copyright © 2016 Mohammed Ibrahim et al. All rights reserved. Septooptic Dysplasia with an Associated Arachnoid Cyst Sun, 06 Nov 2016 06:46:53 +0000 A 4-week-old male infant presented with hypothermia, hypoglycemia, and hyperbilirubinemia. His medical history was remarkable for hydrocephalus secondary to an arachnoid cyst, intermittent hypoglycemia, hypothermia, and poor feeding requiring nasogastric tube for nutrition. Physical exam revealed retrognathia, mild hypotonia, micropenis, and clinodactyly. Ophthalmologic exam demonstrated bilateral optic nerve hypoplasia (ONH). Laboratory data confirmed inadequate cortisol and growth hormone response to hypoglycemia, a low thyroxine level, and direct hyperbilirubinemia. Magnetic resonance imaging of the brain confirmed the known history of arachnoid cyst with hydrocephalus but also revealed anterior pituitary hypoplasia, absence of the posterior pituitary bright spot, a thin pituitary stalk, and bilateral optic nerve hypoplasia. A diagnosis of septooptic dysplasia (SOD) was made. Hormone replacement with hydrocortisone and levothyroxine was started with improvement in the infant’s glycemic control, thermoregulation, feeding, and cholestasis. This case reinforces the importance of careful physical examination and laboratory review in a patient with known history of arachnoid cyst which has been previously described as an associated feature of optic nerve hypoplasia and hypopituitarism. Skyler V. McLaurin-Jiang, Julie K. Wood, and David F. Crudo Copyright © 2016 Skyler V. McLaurin-Jiang et al. All rights reserved. Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations Wed, 02 Nov 2016 07:49:42 +0000 Peroxisomal disorders are a group of genetically heterogeneous metabolic diseases related to dysfunction of peroxisomes. Dysmorphic features, neurological abnormalities, and hepatic dysfunction can be presenting signs of peroxisomal disorders. Here we presented dysmorphic facial features and other clinical characteristics in two patients with PEX1 gene mutation. Follow-up periods were 3.5 years and 1 year in the patients. Case was one-year-old girl that presented with neurodevelopmental delay, hepatomegaly, bilateral hearing loss, and visual problems. Ophthalmologic examination suggested septooptic dysplasia. Cranial magnetic resonance imaging (MRI) showed nonspecific gliosis at subcortical and periventricular deep white matter. Case was 2.5-year-old girl referred for investigation of global developmental delay and elevated liver enzymes. Ophthalmologic examination findings were consistent with bilateral nystagmus and retinitis pigmentosa. Cranial MRI was normal. Dysmorphic facial features including broad nasal root, low set ears, downward slanting eyes, downward slanting eyebrows, and epichantal folds were common findings in two patients. Molecular genetic analysis indicated homozygous novel IVS1-2A>G mutation in Case and homozygous p.G843D (c.2528G>A) mutation in Case in the PEX1 gene. Clinical findings and developmental prognosis vary in PEX1 gene mutation. Kabuki-like phenotype associated with liver pathology may indicate Zellweger spectrum disorders (ZSD). Mehmet Gunduz and Ozlem Unal Copyright © 2016 Mehmet Gunduz and Ozlem Unal. All rights reserved. Multimodality Cardiac Imaging in a Patient with Kawasaki Disease and Giant Aneurysms Mon, 31 Oct 2016 12:59:08 +0000 Kawasaki disease is a well-known cause of acquired cardiac disease in the pediatric and adult population, most prevalent in Japan but also seen commonly in the United States. In the era of intravenous immunoglobulin (IVIG) treatment, the morbidity associated with this disease has decreased, but it remains a serious illness. Here we present the case of an adolescent, initially diagnosed with Kawasaki disease as an infant, that progressed to giant aneurysm formation and calcification of the coronary arteries. We review his case and the literature, focusing on the integral role of multimodality imaging in managing Kawasaki disease. Ranjini Srinivasan, Rachel Weller, Anjali Chelliah, and Andrew J. Einstein Copyright © 2016 Ranjini Srinivasan et al. All rights reserved. A Case of Thyroid Storm Associated with Cardiomyopathy and Poststreptococcal Glomerulonephritis Thu, 27 Oct 2016 13:34:32 +0000 Thyroid storm has a high mortality rate and is often associated with a precipitating factor such as intercurrent illness or infection. It is rare in pediatric patients. Cardiac disease in hyperthyroidism mostly manifests itself as tachycardia but more serious cardiac findings have also been described. A 5-year-old male with recent strep throat infection presented with dilated cardiomyopathy, hematuria, and symptoms and lab findings consistent with severe hyperthyroidism. He was diagnosed with thyroid storm secondary to concurrent Graves’ disease and poststreptococcal glomerulonephritis (PSGN). After starting the treatment with methimazole and a beta-blocker, his cardiac disease gradually improved and the PSGN resolved over time. There are no specific pediatric criteria for thyroid storm. Adult criteria can be difficult to apply to pediatric cases. Criteria for diagnosis of thyroid storm are less clear for pediatric patients. Dilated cardiomyopathy is a rare cardiac manifestation of hyperthyroidism. PSGN is due to glomerular immune complexes and can complicate group A strep infection. Providers should be aware of cardiac disease as a complication of hyperthyroidism. PSGN should not mechanistically be related to hyperthyroidism but can precipitate the signs of thyroid storm such as hypertension. This association has not been previously reported in the literature. Lisa J. Underland, Gerson A. Vallencia Villeda, Abhijeet Pal, and Leslie Lam Copyright © 2016 Lisa J. Underland et al. All rights reserved. A Swelling over Sternum in a Child: Reminder of an Uncommon Diagnosis Tue, 25 Oct 2016 11:18:47 +0000 Lack of awareness about isolated tubercular osteomyelitis of the sternum resulted in a delay in diagnosing the condition in an eleven-year-old girl who presented with a gradually increasing swelling over the sternum. Radiological, histological, and microbiological investigations helped diagnose the condition and the child responded well to antitubercular therapy (ATT) and surgical debridement. The report provides a brief description about the various management options available. Pradnya Joshi, Sandeep B. Bavdekar, and Sushma U. Save Copyright © 2016 Pradnya Joshi et al. All rights reserved.