Case Reports in Pediatrics The latest articles from Hindawi Publishing Corporation © 2014 , Hindawi Publishing Corporation . All rights reserved. A Case of Acute Myeloid Leukemia (FAB M2) with Inversion 16 Who Presented with Pelvic Myeloid Sarcoma Mon, 22 Dec 2014 06:25:25 +0000 Acute leukemias are the most common childhood cancer in all age groups. Acute myeloid leukemias (AML) constitute about 15–20% of acute leukemias. Fatigability, pallor, fever, and bleeding are the most common presenting symptoms of AML. Hepatosplenomegaly and lymphadenopathy are commonly encountered during physical examination. In rare instances eruptions due to skin involvement and localized tumor masses (myeloid sarcoma) may be found. Myeloid sarcoma is especially seen in AML-M2 subtype. By cytogenetic analysis, in AML-M2 subtype t(8;21) is often seen and it is more probable to find inversion 16 in AML-M4Eos subtype. Herein, we present a 15-year-old girl whose initial symptom was abdominal pain for three days and her pathological sign was a large abdominal mass which was verified by imaging studies and diagnosed as myeloid sarcoma by biopsy. On bone marrow examination, she had diagnosis of AML-M2 and by cytogenetic analysis inversion 16 was positive. She was treated with AML-BFM 2004 protocol and she is being followed up in remission on her ninth month of the maintenance therapy. Mustafa Çakan, Ahmet Koç, Kıvılcım Cerit, Süheyla Bozkurt, Rabia Ergelen, and Irmak Vural Copyright © 2014 Mustafa Çakan et al. All rights reserved. Management of Large Erupting Complex Odontoma in Maxilla Sun, 14 Dec 2014 09:47:13 +0000 We present the unusual case of a large complex odontoma erupting in the maxilla. Odontomas are benign developmental tumours of odontogenic origin. They are characterized by slow growth and nonaggressive behaviour. Complex odontomas, which erupt, are rare. They are usually asymptomatic and are identified on routine radiograph but may present with erosion into the oral cavity with subsequent cellulitis and facial asymmetry. This present paper describes the presentation and management of an erupting complex odontoma, occupying the maxillary sinus with extension to the infraorbital rim. We also discuss various surgical approaches used to access this anatomic area. Colm Murphy, John Edward O’Connell, Edward Cotter, and Gerard Kearns Copyright © 2014 Colm Murphy et al. All rights reserved. Symptomatic Floor-of-Mouth Swelling with Neck Extension in a 14-Year-Old Girl Wed, 03 Dec 2014 12:58:41 +0000 A plunging ranula is a soft-tissue mass stemming from a mucous extravasation cyst of the sublingual gland which can herniate through the mylohyoid muscle. We describe a case in which a 14-year-old girl presented with a rapidly expanding mass on the floor of her mouth affecting her ability to swallow and speak and causing tracheal compression. The patient was initially managed conservatively with antibiotics and steroids; however, the mass continued to expand necessitating emergent bedside incision and drainage and subsequent surgical intervention. The pathophysiology and management options for ranulas are also discussed herein. Kristin Dayton and Matthew F. Ryan Copyright © 2014 Kristin Dayton and Matthew F. Ryan. All rights reserved. Paraneoplastic Recurrent Hypoglycaemic Seizures: An Initial Presentation of Hepatoblastoma in an Adolescent Male—A Rare Entity Sun, 30 Nov 2014 13:57:56 +0000 Hepatoblastoma (HB) is a rare malignant tumour of the liver and usually occurs in the first three years of life. Hepatoblastoma in adolescents and young adults is extremely rare; nevertheless the prognosis is much worse than in childhood, because these kinds of tumours are usually diagnosed late. Characteristic imaging and histopathological and AFP levels help in the diagnosis of hepatoblastoma. Paraneoplastic features of hepatoblastoma are not uncommon at presentation and include erythrocytosis, thrombocytosis, hypocalcaemia, isosexual precocious puberty, and rarely hypoglycaemia. Even though hypoglycaemia is commonly seen in hepatocellular carcinoma, its association with hepatoblastoma is very rare. We present a case of 15-year-old male patient presenting with complaints of recurrent hypoglycaemic seizures ultimately leading to diagnosis of hepatoblastoma. Managed successfully with neoadjuvant chemotherapy, surgery and adjuvant chemotherapy with adriamycin and cisplatin based regimens. An extensive review of literature in the PubMed and MEDLINE did not reveal much data on paraneoplastic recurrent hypoglycaemic seizures as an initial presentation of hepatoblastomas in adolescents and young adults. Irappa Madabhavi, Apurva Patel, Mukesh Choudhary, Suhas Aagre, Swaroop Revannasiddaiah, Gaurang Modi, Asha Anand, Harsha Panchal, Sonia Parikh, and Shreeniwas Raut Copyright © 2014 Irappa Madabhavi et al. All rights reserved. A Case of Urethral Duplication Arising from the Posterior Urethra to the Scrotum with Urinary Stone in a 6-Year-Old Male Tue, 25 Nov 2014 12:49:36 +0000 Urethral duplication is a rare congenital anomaly. We report a 6-year-old male with type IIA2 (Y-type) using Effmann’s classification. The accessory urethra, in which a urinary stone existed, arose from the posterior urethra to the scrotum. Because of recurrent urinary tract infection and urinary discharge from the accessory urethra, surgical removal of the accessory urethra through a scrotal incision was performed. At 7-month postoperative follow-up the patient was completely free from urinary incontinence and urinary tract infection. Kenichi Mori, Toshitaka Shin, Shohei Tobu, Mitsuru Noguchi, Yasuhiro Sumino, Fuminoi Sato, and Hiromitsu Mimata Copyright © 2014 Kenichi Mori et al. All rights reserved. A Challenge for Diagnosing Acute Liver Injury with Concomitant/Sequential Exposure to Multiple Drugs: Can Causality Assessment Scales Be Utilized to Identify the Offending Drug? Mon, 24 Nov 2014 12:28:46 +0000 Drug-induced hepatotoxicity most commonly manifests as an acute hepatitis syndrome and remains the leading cause of drug-induced death/mortality and the primary reason for withdrawal of drugs from the pharmaceutical market. We report a case of acute liver injury in a 12-year-old Hispanic boy, who received a series of five antibiotics (amoxicillin, ceftriaxone, vancomycin, ampicillin/sulbactam, and clindamycin) for cervical lymphadenitis/retropharyngeal cellulitis. Histopathology of the liver biopsy specimen revealed acute cholestatic hepatitis. All known causes of acute liver injury were appropriately excluded and (only) drug-induced liver injury was left as a cause of his cholestasis. Liver-specific causality assessment scales such as Council for the International Organization of Medical Sciences/Roussel Uclaf Causality Assessment Method scoring system (CIOMS/RUCAM), Maria and Victorino scale, and Digestive Disease Week-Japan were applied to seek the most likely offending drug. Although clindamycin is the most likely cause by clinical diagnosis, none of causality assessment scales aid in the diagnosis. Roxanne Lim, Hassan Choudry, Kim Conner, and Wikrom Karnsakul Copyright © 2014 Roxanne Lim et al. All rights reserved. Fatal Gastrointestinal Hemorrhage in a Young Boy with Newly Diagnosed Metastatic Medulloblastoma on High Dose Dexamethasone Thu, 13 Nov 2014 11:30:57 +0000 A 10-year-old boy with newly diagnosed metastatic medulloblastoma was placed on high dose dexamethasone and ranitidine prior to surgery. The child underwent subtotal resection and was discharged 5 days postoperatively with an uneventful hospital course on a tapering dose of dexamethasone and ranitidine. Over the next 2 days the patient complained of mild abdominal distension with flatulence, without pain, vomiting, or dysmotility. On follow-up in clinic 5 days after discharge, he had normal vital signs when he suddenly became pale and had loss of consciousness. Emergent computerized tomography of the head showed no acute hemorrhage and complete blood count revealed hemoglobin of 4.2 gm/dL. In spite of maximum resuscitation with copious blood products the patient died. Autopsy revealed evidence of duodenal perforation with intraluminal hemorrhage. This case demonstrates a rare fatal complication of high dose dexamethasone therapy even with concurrent gastrointestinal prophylactic therapy. We provide a review of the limited literature on steroid use in pediatric neurooncology with regard to gastrointestinal bleeding. Victor Wong, Nathalie Lefloch, and John R. Crawford Copyright © 2014 Victor Wong et al. All rights reserved. Sanjad-Sakati Syndrome and Its Association with Superior Mesenteric Artery Syndrome Sun, 09 Nov 2014 09:44:22 +0000 Sanjad-Sakati syndrome (SSS) is an autosomal recessive disorder found exclusively in people of Arabian origin. It was first reported in the Kingdom of Saudi Arabia in 1988 and confirmed by a definitive report in 1991. The syndrome comprises of congenital hypoparathyroidism, seizures, severe growth and developmental retardation, low IQ, and atypical facial features. Supportive treatment in the form of vitamin D and growth hormone supplementation is often offered to patients suffering from SSS. This case study focuses on the steps taken to help a patient who was found to have very unusual symptoms and was later found to have superior mesenteric artery syndrome. Osamah Abdullah AlAyed Copyright © 2014 Osamah Abdullah AlAyed. All rights reserved. Recurrent Bacterial Meningitis in a Child with Mondini Dysplasia Thu, 06 Nov 2014 11:09:10 +0000 Mondini dysplasia, also known as Mondini malformation, is a developmental abnormality of the inner and middle ears that can cause hearing loss, cerebrospinal fluid (CSF) leakage, and recurrent bacterial meningitis (RBM), which is defined as two or more episodes of meningitis separated by a period of convalescence and the complete resolution of all signs and symptoms. An accurate diagnosis of the underlying pathology is crucial to prevent further episodes from occurring. Herein, we present a three-year-old boy with RBM and unilateral sensorineural hearing loss. During the evaluation to determine the etiology of the RBM, cystic malformation in the cochlea and vestibular dilatation consistent with Mondini dysplasia were detected via computerized tomography (CT) of the temporal bone. Eda Kepenekli-Kadayifci, Ayşe Karaaslan, Serkan Atıcı, Adem Binnetoğlu, Murat Sarı, Ahmet Soysal, Gülşen Altınkanat, and Mustafa Bakır Copyright © 2014 Eda Kepenekli-Kadayifci et al. All rights reserved. Asparaginase-Induced Hypertriglyceridemia Presenting as Pseudohyponatremia during Leukemia Treatment Mon, 27 Oct 2014 08:44:31 +0000 Asparaginase is a chemotherapeutic agent used to induce disease remission in children with acute lymphoblastic leukemia (ALL). We describe the cases of two females with ALL who developed pseudohyponatremia as a presentation of hypertriglyceridemia following asparaginase treatment. Nine similar published cases of asparaginase-induced hypertriglyceridemia and its complications are also discussed. Possible mechanisms of action include inhibition of lipoprotein lipase, decreased hepatic synthesis of lipoprotein, and increased synthesis of VLDL. Effects of asparaginase-induced hypertriglyceridemia range from asymptomatic to transaminasemia, pancreatitis, and life-threatening thrombosis or hyperviscosity syndrome. All cases of hypertriglyceridemia described resolved following cessation of asparaginase treatment ± further treatments. Ashley Hinson, Dorothee Newbern, and Corinne M. Linardic Copyright © 2014 Ashley Hinson et al. All rights reserved. Metastatic Malignant Ectomesenchymoma Initially Presenting as a Pelvic Mass: Report of a Case and Review of Literature Mon, 27 Oct 2014 00:00:00 +0000 Pediatric soft tissue sarcomas account for approximately 10% of all pediatric malignancies. Malignant ectomesenchymoma is rare biphasic sarcomas consisting of both mesenchymal and neuroectodermal elements. Approximately 64 cases have been reported in the literature and are believed to arise from pluripotent embryologic migratory neural crest cells. We report a 4-year-old boy who initially presented with a pelvic mass and inguinal lymphadenopathy at 6 months of age. Inguinal lymph node biopsy revealed a distinct biphasic tumor with microscopic and immunophenotypic characteristics diagnostic for both alveolar rhabdomyosarcoma and poorly differentiated neuroblastoma. The patient received national protocol chemotherapy against rhabdomyosarcoma with good response and presented with a cerebellar mass 21 months later. The metastatic tumor revealed sheets of primitive tumor cells and diagnostic areas of rhabdomyosarcoma and neuroblastoma were identified only by immunohistochemistry. Cytogenetic analysis of metastatic tumor demonstrated complex karyotype with multiple chromosomal deletions and duplications. The patient received national protocol chemotherapy against neuroblastoma and adjuvant radiotherapy after surgical resection of the cerebellar tumor with good response. He is currently off from any treatment for 18 months with no evidence of tumor recurrence or metastasis. A. Nael, P. Siaghani, W. W. Wu, K. Nael, Lisa Shane, and S. G. Romansky Copyright © 2014 A. Nael et al. All rights reserved. A Neonate with CLOVES Syndrome Wed, 22 Oct 2014 00:00:00 +0000 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome is a recently delineated disorder that comprises vascular malformations (typically truncal), dysregulated adipose tissue, scoliosis, enlarged bony structures (typically of the legs) without progression, or distorting bony overgrowth. The name CLOVE was subsequently extended to CLOVES to emphasize the association with scoliosis/skeletal and spinal anomalies and seizures/central nervous system malformations. We herein report a very rare case of CLOVES syndrome with the findings of lipomatous overgrowth in the cheek (facial asymmetry), vascular malformation (hemangiomas), epidermal nevi (large port wine stains), and skeletal abnormalities (widened first interdigital space, dystrophia in the nail of the first digit of the right foot, and bilateral hypertrophy of the first digits of the feet). Dilek Sarici, Mustafa Ali Akin, Selim Kurtoglu, Filiz Tubas, and Serdar Umit Sarici Copyright © 2014 Dilek Sarici et al. All rights reserved. Neonatal Pulmonary Hemosiderosis Sun, 19 Oct 2014 09:56:20 +0000 Idiopathic pulmonary hemosiderosis (IPH) is a rare complex entity characterized clinically by acute or recurrent episodes of hemoptysis secondary to diffuse alveolar hemorrhage. The radiographic features are variable, including diffuse alveolar-type infiltrates, and interstitial reticular and micronodular patterns. We describe a 3-week-old infant presenting with hemoptysis and moderate respiratory distress. Idiopathic pulmonary hemosiderosis was the first working diagnosis at the Emergency Department and was confirmed, 2 weeks later, by histological studies (bronchoalveolar lavage). The immunosuppressive therapy by 1 mg/kg/d prednisone was immediately started, the baby returned home on steroid therapy at a dose of 0,5 mg/kg/d. The diagnosis of idiopathic pulmonary hemosiderosis should be evocated at any age, even in the neonate, when the clinical presentation (hemoptysis and abnormal radiological chest images) is strongly suggestive. Boris Limme, Ramona Nicolescu, and Jean-Paul Misson Copyright © 2014 Boris Limme et al. All rights reserved. Serious Delayed Hair Toe Tourniquet Syndrome with Bone Erosion and Flexor Tendon Lesion Tue, 14 Oct 2014 08:14:25 +0000 Hair toe tourniquet syndrome (HTTS) is an uncommon pediatric condition occurring when the toe is circumferentially strangulated by human hair or fibers. An 8-week-old little girl was admitted to the Emergency Department because of the worsening swelling in the right second and third toes, which had been been previously treated with a local antibiotic thinking of an infection. An unrecognized HTTS was leading the third toe to necrosis. An urgent release of the constricting band on the two toes was performed and bone erosion and partial flexor tendon lesion on the third toe were detected. We would like to raise awareness in the community and in colleagues about HTTS in children, because early recognition and urgent treatment are mandatory to provide an adequate management and prevent severe complications. Nicola Bizzotto, Andrea Sandri, Dario Regis, Guillherme Carpeggiani, Franco Lavini, and Bruno Magnan Copyright © 2014 Nicola Bizzotto et al. All rights reserved. Six-Digit CPK and Mildly Affected Renal Function in McArdle Disease Thu, 09 Oct 2014 08:41:46 +0000 A previously healthy, white 12-year-old girl presented with diffuse body aches and poor perfusion. She developed severe respiratory failure and marked rhabdomyolysis and was mechanically ventilated. Although her CPK peaked at 500,000 IU/L, her renal function was mildly affected and her creatinine did not exceed the 0.8 mg/dL. The rhabdomyolysis was gradually resolved following aggressive fluid hydration. The patient did not require dialysis and made a complete recovery. Genetic studies revealed the diagnosis of McArdle disease. George Spyropoulos, Panagiotis Kratimenos, Andrew D. Mcinnes, Richard J. DeGroote, and Ioannis Koutroulis Copyright © 2014 George Spyropoulos et al. All rights reserved. Kawasaki Disease with Retropharyngeal Edema following a Blackfly Bite Thu, 02 Oct 2014 07:39:21 +0000 We describe a patient with Kawasaki disease (KD) and retropharyngeal edema following a blackfly bite. An 8-year-old boy was referred to our hospital because of a 3-day-history of fever and left neck swelling and redness after a blackfly bite. Computed tomography of the neck revealed left cervical lymph nodes swelling with edema, increased density of the adjacent subcutaneous tissue layer, and low density of the retropharyngeum. The patient was initially presumed to have cervical cellulitis, lymphadenitis, and retropharyngeal abscess. He was administered antibiotics intravenously, which did not improve his condition. The patient subsequently exhibited other signs of KD and was diagnosed with KD and retropharyngeal edema. Intravenous immunoglobulin therapy and oral flurbiprofen completely resolved the symptoms and signs. A blackfly bite sometimes incites a systemic reaction in humans due to a hypersensitive reaction to salivary secretions, which may have contributed to the development of KD in our patient. Toru Watanabe Copyright © 2014 Toru Watanabe. All rights reserved. Cases of Atypical Lymphangiomas in Children Mon, 29 Sep 2014 06:14:36 +0000 Background. Lymphatic malformations or lymphangiomas are rare benign hamartomas that result from maldevelopment of primitive lymphatic sacs. They are most frequently found in the neck and axilla, while intra-abdominal and mediastinal lymphangiomas are uncommon. These are primarily tumours of infancy and childhood and are successfully treated with surgical excision. Summary of Cases. Five cases of lymphangioma comprising three intra-abdominal lymphangiomas and two unilateral axillary lymphangiomas presenting at one institution in Trinidad W.I. between 2005 and 2012 were examined. The presentations, location, workup, treatment, and outcome of these patients were studied. Conclusion. This paper discusses a range of extracervical lymphangioma cases seen at San Fernando General Hospital, Trinidad W.I. We report three intra-abdominal cases and the most common clinical presentations were abdominal pain and distension. Also two axillary cases were reported, which presented as painless axillary masses. The major concerns for excision of axillary lymphangioma by parents and surgeons were cosmesis and feasibility of complete resection without disruption of developing breast tissue and axillary vessels. We believe that ultrasound scan is very good at detection of the lesion, while CT is better at determining tumour content and planning for the operation. It is our opinion that complete surgical excision can be achieved. Prashant K. Minocha, Lakhan Roop, and Rambachan Persad Copyright © 2014 Prashant K. Minocha et al. All rights reserved. Hodgkin’s Lymphoma Revealed by Hemophagocytic Lymphohistiocytosis in a Child Mon, 29 Sep 2014 00:00:00 +0000 Hemophagocytic lymphohistiocytosis (HLH) is a severe life-threatening disorder, responsible for extensive phagocytosis of hematopoietic cells and causing a multisystem organ failure. If lymphomas are common causes of HLH, the association with Hodgkin’s lymphoma is rarely described in children. We report a case of a 9-year-old boy presenting with HLH as an initial manifestation of Hodgkin’s lymphoma. He has been suffering from persistent high fever, asthenia, weight loss, and hepatosplenomegaly with no lymphadenopathy. The diagnosis of HLH secondary to infectious disease was initially worn. The patient received high-dose intravenous immunoglobulin with broad-spectrum antibiotics. However, his state got worse with the onset of dry cough and pleural effusion. Histopathologic examination of pleural fluid showed the presence of Reed-Sternberg cells. The outcome was favorable after treatment by corticosteroid and chemotherapy. Hodgkin’s lymphoma revealed by HLH is a source of delayed diagnosis and should be borne in mind in children. Sarra Benmiloud, Mohamed Hbibi, Sana Chaouki, Sana Abourazzak, and Moustapha Hida Copyright © 2014 Sarra Benmiloud et al. All rights reserved. Multiple Cardiac Rhabdomyomas, Wolff-Parkinson-White Syndrome, and Tuberous Sclerosis: An Infrequent Combination Mon, 22 Sep 2014 00:00:00 +0000 Cardiac rhabdomyomas are benign cardiac tumours and are often associated with tuberous sclerosis. They are often asymptomatic with spontaneus regresion but can cause heart failure, arrhythmias, and obstruction. There have also been a few isolated reports of Wolff-Parkinson-White syndrome occurring in association with tuberous sclerosis and the great majority has been detected in patients with concomitant rhabdomyomas. We report a 12-day-old infant girl with tuberous sclerosis who presented with intraparietal and intracavitary rhabdomyomas with a Wolff-Parkinson-White syndrome (WPW). She represents one of the few published cases of WPW syndrome and tuberous sclerosis and particularly interesting because of intramural rhabdomyomas regression with persistent intracavitary rhabdomyomas after two years of followup. Elena Castilla Cabanes and Isaac Lacambra Blasco Copyright © 2014 Elena Castilla Cabanes and Isaac Lacambra Blasco. All rights reserved. Pulmonary Hemosiderosis in Children with Bronchopulmonary Dysplasia Wed, 17 Sep 2014 06:06:09 +0000 We describe a possible association between pulmonary hemosiderosis (PH) and a history of bronchopulmonary dysplasia (BPD). Both patients were born at 28-week gestation and presented with PH at ages 22 months and 6 years, respectively. Both initially presented with cough and tachypnea, and bronchoalveolar lavage showed evidence of hemosiderin-laden macrophages. Initial hemoglobin levels were < 4 g/dL and chest radiographs showed diffuse infiltrates that cleared dramatically within days after initiation of intravenous corticosteroids. In the first case, frank pulmonary blood was observed upon initial intubation, prompting the need for high frequency ventilation, immediate corticosteroids, and antibiotics. The mechanical ventilation wean was made possible by the addition of mycophenolate mofetil (MMF) and hydroxychloroquine. Slow tapering off of medications was accomplished over 6 years. These cases represent a possible correlation between prematurity-associated BPD and PH. We present a review of the literature regarding this possible association. In addition, MMF proved to be life-saving in one of the PH cases, as it has been in pulmonary hemorrhage related to systemic lupus erythematosus. Further studies are warranted to investigate the possible association between PH and prematurity-related BPD, as well as the use of MMF in the treatment of PH. David Kurahara, Marina Morie, Maya Yamane, Sarah Lam, Wallace Matthews, Keolamau Yee, and Kara Yamamoto Copyright © 2014 David Kurahara et al. All rights reserved. A Rare Case of Neonatal Complicated Appendicitis in a Child with Patau’s Syndrome Wed, 03 Sep 2014 06:32:36 +0000 Neonatal appendicitis is a rare condition with high mortality rate. Signs and symptoms are often nonspecific, imaging modalities are not always diagnostic, and preoperative diagnosis is difficult with subsequent delay and complications. Its pathophysiology may be different from appendicitis in older children and comorbidities can be found. We report a case of a female neonate with Patau’s syndrome, intestinal malrotation, and Fallot tetralogy in whom perforated appendix, probably occurring during fetal period due to vascular insufficiency, was found at laparotomy. Valentina Pastore and Fabio Bartoli Copyright © 2014 Valentina Pastore and Fabio Bartoli. All rights reserved. Cooccurrence of Darier’s Disease and Epilepsy: A Pediatric Case Report and Review of the Literature Mon, 01 Sep 2014 09:35:38 +0000 Darier’s disease is a skin disorder characterized by multiple eruptions of hyperkeratosis or crusted papules at seborrheic areas with histologic acantholysis and dyskeratosis. It is caused by mutations in a single gene, being ATP2A2 and that is expressed in the skin and brain. The cooccurrence of various neurologic and psychiatric diseases with Darier's disease has been reported frequently in literature. They include mood disorders, epilepsy, encephalopathy, and schizophrenia. In this study, we report a pediatric case with the cooccurrence of Darier’s disease and epilepsy. We also revised current English literature on this topic. Tamer Celik, Umit Celik, Cigdem Donmezer, Mustafa Komur, Orkun Tolunay, and Pelin Demirtürk Copyright © 2014 Tamer Celik et al. All rights reserved. A Case of Diprosopus: Perinatal Counseling and Management Sun, 31 Aug 2014 08:42:49 +0000 Diprosopus is a rare congenital malformation associated with high mortality. Here, we describe a patient with diprosopus, multiple life-threatening anomalies, and genetic mutations. Prenatal diagnosis and counseling made a beneficial impact on the family and medical providers in the care of this case. Kimberly M. Thornton, Timothy Bennett, Vivekanand Singh, Neil Mardis, Jennifer Linebarger, Howard Kilbride, and Kristin Voos Copyright © 2014 Kimberly M. Thornton et al. All rights reserved. Can Attention Deficits Predict a Genotype? Isolate Attention Difficulties in a Boy with Klinefelter Syndrome Effectively Treated with Methylphenidate Tue, 19 Aug 2014 07:42:56 +0000 This paper describes a 17-year-old boy who was diagnosed with Klinefelter syndrome (KS) (XXY) at the age of 16 years. Although cognitive level was absolutely normal, he showed attentional difficulties that negatively affected school adjustment. He was successfully treated with methylphenidate. A significant improvement was observed in the ADHD Rating Scale IV and in the inattention subscale score of the Conners Scales. The CGI-S score improved from 3 to 1, and the CGI-I score at the end point was 1 (very much improved). Also attention measures, particularly forward and backward digit span, improved with MPH treatment. Given the widely variable and often aspecific features, KS may run undiagnosed in a large majority of affected patients. A close attention to the cognitive phenotype may favour a correct diagnosis, and a timely treatment. Antonella Gagliano, Eva Germanò, Loredana Benedetto, and Gabriele Masi Copyright © 2014 Antonella Gagliano et al. All rights reserved. Cutaneous Manifestation of Metastatic Infantile Choriocarcinoma Tue, 12 Aug 2014 08:56:26 +0000 Infantile choriocarcinoma is a highly malignant rare germ cell tumor that arises from the placenta. Simultaneous intraplacental choriocarcinoma involving both mother and infant is extremely rare. Cutaneous metastasis in infantile choriocarcinoma is even rarer with only a few case reports available. Here we describe a case of a female neonate who presented to the ED with a rapidly growing and bleeding vascular lesion to her right cheek. She was eventually diagnosed by biopsy with metastatic choriocarcinoma. In addition to the cutaneous tumor, she also had metastatic disease in her lungs. Her mother was subsequently found to have choriocarcinoma with metastatic disease to the lungs as well. Timothy Brooks and Laura Nolting Copyright © 2014 Timothy Brooks and Laura Nolting. All rights reserved. Smith-Lemli-Opitz Syndrome: A Case with Annular Pancreas Tue, 05 Aug 2014 00:00:00 +0000 Smith-Lemli-Opitz syndrome is an autosomal recessive disease of cholesterol metabolism. It is a multiple malformation syndrome with typical dysmorphic features such as bitemporal narrowing, ptosis, epicanthus, microcephaly, micrognathia, and cardiovascular, skeletal, urogenital, and gastrointestinal anomalies. This report presents a typical case of Smith-Lemli-Opitz syndrome with annular pancreas which is an unreported gastrointestinal abnormality. Mehmet Demirdöven, Hamza Yazgan, Mevlit Korkmaz, Arzu Gebeşçe, and Alparslan Tonbul Copyright © 2014 Mehmet Demirdöven et al. All rights reserved. The Value of Family History in Diagnosing Primary Immunodeficiency Disorders Tue, 05 Aug 2014 00:00:00 +0000 Eliciting proper family medical history is critical in decreasing morbidity and mortality in patients with primary immunodeficiency disorders (PIDs). Communities with a common practice of consanguinity have a high rate of PIDs. We are presenting 2 cases where digging deeply into the family medical history resulted in the diagnosis of Omenn syndrome, a possibly fatal entity if not managed in a reasonable period. Mohamed A. Hendaus, Ahmad Alhammadi, Mehdi M. Adeli, and Fawzia Al-Yafei Copyright © 2014 Mohamed A. Hendaus et al. All rights reserved. Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene Wed, 16 Jul 2014 00:00:00 +0000 An 8-year-old Japanese boy presented with a generalized convulsion. He had hypokalemia (serum K 2.4 mEq/L), hypomagnesemia, and metabolic alkalosis (BE 5.7 mmol/L). In addition, his plasma renin activity was elevated. He was tentatively diagnosed with epilepsy on the basis of the electroencephalogram findings and was treated by potassium L-aspartate and carbamazepine to control the hypokalemia and seizure, respectively. However, a year later, the patient continued to have similar abnormal laboratory data. A presumptive diagnosis of Gitelman syndrome (GS) was then made and the patient’s peripheral blood mononuclear cells were subjected to sequence analysis of the SLC12A3 gene, which encodes a thiazide-sensitive sodium-chloride cotransporter. The patient was found to have compound heterozygous mutations, namely, R642H inherited from his father and R642W inherited from his mother. Thus, if a patient shows persistent hypokalemia and metabolic alkalosis, GS must be considered, even if the patient exhibits atypical clinical symptoms. Shigeru Makino, Toshihiro Tajima, Jun Shinozuka, Aki Ikumi, Hitoshi Awaguni, Shin-ichiro Tanaka, Rikken Maruyama, and Shinsaku Imashuku Copyright © 2014 Shigeru Makino et al. All rights reserved. Perilobar Nephroblastomatosis: Natural History and Management Wed, 09 Jul 2014 10:38:38 +0000 Nephroblastomatosis (NB) has been considered as a precursor of Wilms tumor (WT). The natural history of NB seems to present significant variation as some lesions may regress spontaneously, while others may grow and expand or relapse and develop into WT later in childhood. Although, most investigators suggest adjutant chemotherapy, the effect and duration of treatment are not well established. Children with diffuse perilobar NB, Beckwith-Wiedemann syndrome, and hemihypertrophy seem to particularly benefit from treatment. We discuss our experience on two cases of NB and we review the literature for the management of this rare condition. S. Stabouli, N. Printza, J. Dotis, A. Matis, D. Koliouskas, N. Gombakis, and F. Papachristou Copyright © 2014 S. Stabouli et al. All rights reserved. Acute Brachial Artery Thrombosis in a Neonate Caused by a Peripheral Venous Catheter Mon, 30 Jun 2014 12:03:27 +0000 This case describes the diagnostic testing and management of an acute thrombosis of the brachial artery in a female neonate. On day seven of life, clinical signs of acutely decreased peripheral perfusion indicated an occlusion of the brachial artery, which was confirmed by high-resolution Doppler ultrasound. Imaging also showed early stages of collateralization so that surgical treatment options could be avoided. Unfractionated heparin was used initially and then replaced by low-molecular-weight heparin while coagulation parameters were monitored closely. Within several days, brachial artery perfusion was completely restored. Acetylsalicylic acid was given for additional six weeks to minimize the risk of recurring thrombosis. If inadequately fixated in a high-risk location, a peripheral venous catheter can damage adjacent structures and thus ultimately cause arterial complications. Simon Berzel, Emilia Stegemann, Hans-Joerg Hertfelder, Katja Schneider, and Nico Hepping Copyright © 2014 Simon Berzel et al. All rights reserved.