Case Reports in Pediatrics The latest articles from Hindawi Publishing Corporation © 2015 , Hindawi Publishing Corporation . All rights reserved. Systemic Steroid Treatment for Severe Expanding Pneumococcal Pneumonia Thu, 26 Feb 2015 09:17:24 +0000 The treatment of bacterial community-acquired pneumonia (CAP) is based on appropriate antibiotic therapy and supportive care such as intravenous fluids and supplemental oxygen. There is no available data regarding the use of steroids in CAP in children. We present an unusual case of a child with severe respiratory distress, on the brink of mechanical ventilation, due to a rapidly expanding pneumococcal pneumonia. The administration of systemic steroids resulted in a dramatic response with rapid improvement of clinical and radiological abnormalities followed by improvement of laboratory abnormalities. This case report should raise the awareness of the potential benefits of steroids in the treatment of severe pneumonia in children. Prospective randomized trials are needed to confirm the efficacy of steroids in this setting and to determine which patients would benefit most from this. Eran Lavi, David Shoseyov, Natalia Simanovsky, and Rebecca Brooks Copyright © 2015 Eran Lavi et al. All rights reserved. Subacute Sclerosing Panencephalitis in a Child with Recurrent Febrile Seizures Tue, 24 Feb 2015 08:15:12 +0000 Subacute sclerosing panencephalitis (SSPE) is a devastating disease of the central nervous system (CNS) caused by persistent mutant measles virus infection. The diagnosis of SSPE is based on characteristic clinical and EEG findings and demonstration of elevated antibody titres against measles in cerebrospinal fluid. Subacute sclerosing panencephalitis can have atypical clinical features at the onset. Herein, we report an unusual case of subacute sclerosing panencephalitis in a child with recurrent febrile seizures. The disease progressed with an appearance of myoclonic jerks, periodic high amplitude generalized complexes on EEG, and elevated titers of measles antibodies in cerebrospinal fluid leading to the final diagnosis of subacute sclerosing panencephalitis. Ayşe Kartal, Ayşegül Neşe Çıtak Kurt, Tuğba Hirfanoğlu, Kürşad Aydın, and Ayşe Serdaroğlu Copyright © 2015 Ayşe Kartal et al. All rights reserved. Successful Treatment with Mycophenolate Mofetil and Tacrolimus in Juvenile Severe Lupus Nephritis Tue, 17 Feb 2015 12:39:54 +0000 Lupus nephritis (LN) of juvenile onset often has severe disease presentation. Despite aggressive induction therapy, up to 20% of patients with LN are resistant to initial therapy and up to 44% suffer a renal relapse. However, there is no consensus on an appropriate therapeutic regimen for refractory LN. We report a 13-year-old girl with recurrent LN who was not taking her medications. At age of 11 years, she was diagnosed with LN classified as International Society of Nephrology/Renal Pathology Society (ISN/RPS) class IV G (A) + V. She was treated with prednisolone and MMF after nine methylprednisolone pulses. Nineteen months later, she was admitted to the hospital with generalized edema. Her symptoms were nephrotic syndrome and acute renal dysfunction. She received three methylprednisolone pulses for 3 days, followed by oral prednisolone and MMF. Twenty-seven days after the three methylprednisolone pulses, her acute renal dysfunction was improved, but the nephrotic syndrome was not improved. A second biopsy showed diffuse lupus nephritis classified as the predominant finding of ISN/RPS class V. We added tacrolimus to the MMF. Four months after adding tacrolimus, the nephrotic syndrome improved. We conclude that adding tacrolimus to the treatment regimen for LN resistant to MMF is effective. Tomoo Kise, Hiroshi Yoshimura, Shigeru Fukuyama, and Masatsugu Uehara Copyright © 2015 Tomoo Kise et al. All rights reserved. Multicentric Castleman’s Disease in a Child Revealed by Chronic Diarrhea Mon, 09 Feb 2015 06:29:31 +0000 Multicentric Castleman’s disease is a rare benign and unexplained lymphoproliferative disorder that is extremely uncommon in children. It presents with fever, systemic symptoms, generalized lymphadenopathy, and laboratory markers of inflammation. Its treatment is not standardized and its prognosis is poor. We report a novel case of multicentric Castleman’s disease in a 13-year-old girl who had presented with chronic diarrhea as the only initial presenting symptom. The diagnosis of celiac or inflammatory bowel diseases was suspected, but two and a half years later, the diagnosis of multicentric Castleman’s disease was brought following the appearance of abdominal mass whose biopsy revealed Castleman’s disease in the plasma cell form. The outcome was favorable after treatment by corticosteroid, chemotherapy, and surgery. The occurrence of diarrhea as the initial symptom of multicentric Castleman’s disease without lymph node involvement is very rare. This case report underlines the diagnostic difficulties and the long interval between onset and diagnosis when diarrhea occurs first. Sarra Benmiloud, Sana Chaouki, Samir Atmani, and Moustapha Hida Copyright © 2015 Sarra Benmiloud et al. All rights reserved. Congenital Portosystemic Shunt: Our Experience Mon, 02 Feb 2015 09:15:36 +0000 Introduction. Congenital portosystemic venous malformations are rare abnormalities in which the portal blood drains into a systemic vein and which are characterized by extreme clinical variability. Case Presentations. The authors present two case reports of a congenital extrahepatic portosystemic shunt (Type II). In the first patient, apparently nonspecific symptoms, such as headache and fatigue, proved to be secondary to hypoglycemic episodes related to the presence of a portosystemic shunt, later confirmed on imaging. During portal vein angiography, endovascular embolization of the portocaval fistula achieved occlusion of the anomalous venous tract. In the second patient, affected by Down’s syndrome, the diagnosis of a portosystemic malformation was made by routine ultrasonography, performed to rule out concurrent congenital anomalies. Because of the absence of symptoms, we chose to observe this patient. Conclusions. These two case reports demonstrate the clinical heterogeneity of this malformation and the need for a multidisciplinary approach. As part of a proper workup, clinical evaluation must always be followed by radiographic diagnosis. Tiziana Timpanaro, Stefano Passanisi, Alessandra Sauna, Claudia Trombatore, Monica Pennisi, Giuseppe Petrillo, Pierluigi Smilari, and Filippo Greco Copyright © 2015 Tiziana Timpanaro et al. All rights reserved. Severe IgG4-Related Disease in a Young Child: A Diagnosis Challenge Thu, 29 Jan 2015 08:52:04 +0000 Immunoglobulin G4-related disease (IgG4-RD) is an increasingly recognized syndrome that can appear with multiple organ involvement, typically with tumor-like swelling, lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, and elevated serum IgG4 concentrations. We report the case of a 22-month-old female child with failure to thrive and recurrent respiratory tract infections since 8 months of age. Physical examination was normal except for pulmonary auscultation with bilateral crackles and wheezes. Laboratory tests revealed elevated erythrocyte sedimentation rate, and elevated serum IgG and IgG4 with polyclonal hypergammaglobulinemia. Thoracic CT and MRI showed multiple mediastinal lymphadenopathies and a nodular posterior mediastinal mass in right paratracheal location with bronchial compression. Initial fine needle aspiration biopsy was compatible with reactive lymphadenopathy but after clinical worsening a thoracoscopic partial resection of the mass was performed and tissue biopsy revealed lymphoplasmacytic infiltrate and increased number of IgG4-positive plasma cells and a ratio of IgG4/IgG positive cells above 40%. Glucocorticoids therapy was started with symptomatic improvement, reduction in the size of the mass, and decrease of serum IgG4 levels after 6 weeks. There are very few reports of IgG4-RD in children. Long-term follow-up is necessary to monitor relapses and additional organ involvement. Susana Corujeira, Catarina Ferraz, Teresa Nunes, Elsa Fonseca, and Luísa Guedes Vaz Copyright © 2015 Susana Corujeira et al. All rights reserved. Separation of the Proximal Humeral Epiphysis in the Newborn: Rapid Diagnosis with Ultrasonography Wed, 28 Jan 2015 11:49:06 +0000 Separation of the proximal humeral epiphysis (SPHE) is a well-known occurrence and may occur secondary to trauma, infection, and nonaccidental trauma. Since most newborns do not have the proximal humeral epiphysis ossified at birth, the diagnosis may be difficult to make on routine radiographs. Ultrasonography of the shoulder in the newborn is rapid, noninvasive, and nonionizing imaging techniques which can diagnose SPHE. In this report, we describe and emphasize the diagnostic utility of state-of-the-art ultrasonography for the diagnosis of SPHE. Rachelle Goldfisher and John Amodio Copyright © 2015 Rachelle Goldfisher and John Amodio. All rights reserved. A Case of Battery Ingestion in a Pediatric Patient: What Is Its Importance? Tue, 27 Jan 2015 11:57:52 +0000 This is a case of a two-year-old boy who has been suffering from food regurgitation and frequent vomiting over the past seven months which were progressively worsening with time. He was initially diagnosed with gastroesophageal reflux disease and treated accordingly but responded only minimally. Investigations and interventional procedures including a chest X-ray showed a metallic round object in the upper esophagus consistent with a button battery which was removed via a thoracotomy after an esophagoscopy was not successful. This child would not have developed such serious complications and would not have required major surgery had the foreign body been identified and removed early on. Elie Alam, Marc Mourad, Samir Akel, and Usamah Hadi Copyright © 2015 Elie Alam et al. All rights reserved. Bilateral Symmetrical Herpes Zoster in an Immunocompetent 15-Year-Old Adolescent Boy Tue, 27 Jan 2015 08:31:45 +0000 Herpes zoster is uncommon in immunocompetent children. The bilateral symmetrical occurrence of herpes zoster lesions is extremely rare. We report a 15-year-old immunocompetent Chinese adolescent boy who developed bilateral symmetrical herpes zoster lesions. To our knowledge, the occurrence of bilateral symmetrical herpes zoster lesions in an immunocompetent individual has not been reported in the pediatric literature. Alexander K. C. Leung and Benjamin Barankin Copyright © 2015 Alexander K. C. Leung and Benjamin Barankin. All rights reserved. Liver Transplant in a Patient under Methylphenidate Therapy: A Case Report and Review of the Literature Thu, 22 Jan 2015 08:12:16 +0000 Background. Methylphenidate (MPH) is widely used in treating children with attention-deficit-hyperactivity disorder. Hepatotoxicity is a rare phenomenon; only few cases are described with no liver failure. Case. We report on the case of a 12-year-old boy who received MPH for attention-deficit-hyperactivity disorder. Two months later the patient presented with signs and symptoms of hepatitis and MPH was discontinued, showing progressive worsening and developing liver failure and a liver transplantation was required. Other causes of liver failure were ruled out and the liver biopsy was suggestive of drug toxicity. Discussion. One rare adverse reaction of MPH is hepatotoxicity. The review of the literature shows few cases of liver injury attributed to MPH; all of them recovered after withdrawing the treatment. The probable mechanism of liver injury was MPH direct toxicity to hepatocytes. In order to establish the diagnosis of MPH-induced liver injury, we used CIOMS/RUCAM scale that led to an assessment of “possible” relationship. This report provides the first published case of acute MPH-induced liver failure with successful hepatic transplantation. Conclusions. It is important to know that hepatotoxicity can occur in patients with MPH treatment and monitoring the liver’s function is highly recommended. Hoi Y. Tong, Carmen Díaz, Elena Collantes, Nicolás Medrano, Alberto M. Borobia, Paloma Jara, and Elena Ramírez Copyright © 2015 Hoi Y. Tong et al. All rights reserved. Concurrence of Meningomyelocele and Salt-Wasting Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Mon, 19 Jan 2015 08:14:51 +0000 Congenital adrenal hyperplasia (CAH) is a group of inherited defects of cortisol biosynthesis. A case of classical CAH due to 21-hydroxylase deficiency (21-OHD) with early onset of salt waste and concurrence of meningomyelocele (MMC) was presented here. The management of salt-wasting crisis which is complicated by a postrenal dysfunction due to neurogenic bladder was described. Possible reasons of growth retardation in the one-year follow-up period were discussed. A significant regression of the phallus with proper medical treatment was also mentioned. Heves Kırmızıbekmez, Rahime Gül Yesiltepe Mutlu, Serdar Moralıoğlu, Ahmet Tellioğlu, and Ayşenur Cerrah Celayir Copyright © 2015 Heves Kırmızıbekmez et al. All rights reserved. Ameloblastic Fibroma of the Maxilla with Bilateral Presentation: Report of a Rare Case with Review of the Literature Mon, 05 Jan 2015 10:05:03 +0000 Ameloblastic fibroma (AF) is an uncommon benign odontogenic tumour, with both epithelial and mesenchymal neoplastic proliferation. It occurs most frequently in the posterior region of the mandible, while its occurrence in the maxilla is extremely rare. They are usually encountered in children, emphasizing it as an important diagnostic consideration. Herein, we report the first case of a bilateral maxillary ameloblastic fibroma in a 2-year-old female child patient who presented with a chief complaint of swelling in the right mid facial region. Kranti Kiran Reddy Ealla, Vijayabaskar Reddy Basavanapalli, Surekha Reddy Velidandla, Sangameshwar Manikya, Rajesh Ragulakollu, Prasanna M. Danappanavar, and Vijayasree Vennila Copyright © 2015 Kranti Kiran Reddy Ealla et al. All rights reserved. Deep Venous Thrombosis of the Leg, Associated with Agenesis of the Infrarenal Inferior Vena Cava and Hypoplastic Left Kidney (KILT Syndrome) in a 14-Year-Old Child Mon, 05 Jan 2015 09:09:15 +0000 Agenesis of the inferior vena cava (IVC) is a rare anomaly which can be identified as incidental finding or can be associated with iliofemoral vein thrombosis. IVC agenesis has a known association with renal anomalies which are mainly confined to the right kidney. We describe a case of a 14-year-old male who presented with left leg swelling and pain. Ultrasonography confirmed the presence of left leg deep vein thrombosis (DVT). No underlying hematologic risk factors were identified. A CT scan was obtained which demonstrated absent infrarenal IVC and extensive thrombosis in the left deep venous system and development of collateral venous flow into the azygous/hemiazygous system, with extension of thrombus into paraspinal collaterals. An additional finding in the patient was an atrophic left kidney and stenosis of an accessory left renal artery. Agenesis of the IVC should be considered in a young patient presenting with lower extremity DVT, especially in patients with no risk factors for thrombosis. As agenesis of the IVC cannot be corrected, one should be aware that there is a lifelong risk of lower extremity DVT. Sakshi Bami, Yarelis Vazquez, Valeriy Chorny, Rachelle Goldfisher, and John Amodio Copyright © 2015 Sakshi Bami et al. All rights reserved. Necrotizing Fasciitis of the Chest in a Neonate in Southern Nigeria Tue, 30 Dec 2014 12:29:12 +0000 We discuss the successful saving of a male neonate with necrotizing fasciitis of the chest following a hot fomentation of the umbilicus with exposure of the ribs and the pleural space on the right side. He recovered 5 weeks after admission. We stressed the need to recognize necrotizing fasciitis extending from the upper anterior abdominal wall to the chest following hot fomentation of the umbilicus. The need for multidisciplinary cooperation for excellent outcome is very important, that is, neonatologist, medical microbiologist, and plastic and chest surgeons. Oluwafemi Olasupo Awe, Emeka B. Kesieme, Babatunde Kayode-Adedeji, and Quinzy O. Aigbonoga Copyright © 2014 Oluwafemi Olasupo Awe et al. All rights reserved. Atypical Presentation of Cat-Scratch Disease in an Immunocompetent Child with Serological and Pathological Evidence Sun, 28 Dec 2014 00:10:20 +0000 Typical cat-scratch disease (CSD) is characterized by local lymphadenopathy following the scratch or bite from a cat or kitten. An atypical presentation which includes liver and/or spleen lesions is rarely reported in an immunocompetent child. Systemic CSD may mimic more serious disorders like malignancy or tuberculosis. Although a diagnosis is difficult to establish in systemic CSD, an early diagnosis and an appropriate treatment are important to prevent complications. Bartonella henselae is difficult to culture, and culture is not routinely recommended. Clinical, serological, radiological, and pathological findings are used for the diagnosis of CSD. Herein we present a case of systemic CSD presenting with hepatic mass in an immunocompetent child. The differential diagnosis is made by serological and pathological evidence. He was successfully treated with gentamicin (7.5 mg/kg) and rifampin (15 mg/kg) for six weeks. Serkan Atıcı, Eda Kepenekli Kadayıfcı, Ayşe Karaaslan, Muhammed Hasan Toper, Cigdem Ataizi Celikel, Ahmet Soysal, and Mustafa Bakır Copyright © 2014 Serkan Atıcı et al. 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.