Case Reports in Pediatrics http://www.hindawi.com The latest articles from Hindawi Publishing Corporation © 2014 , Hindawi Publishing Corporation . All rights reserved. A Triad of Congenital Diaphragmatic Hernia, Meckel’s Diverticulum, and Heterotopic Pancreas Thu, 03 Apr 2014 05:50:11 +0000 http://www.hindawi.com/journals/cripe/2014/725945/ Congenital diaphragmatic hernia is a common developmental anomaly encountered by paediatric surgeons. It is known to be associated with extradiaphragmatic malformations, which include cardiac, renal, genital, and chromosomal abnormalities. Herein, we report a newborn born with concurrent congenital diaphragmatic hernia, Meckel’s diverticulum, and heterotopic pancreatic tissue. This is the first case report of such a triad with description of possible mechanisms of the development. Parkash Mandhan, Amer Al Saied, and Mansour J. Ali Copyright © 2014 Parkash Mandhan et al. All rights reserved. Familial Mediterranean Fever: Diagnosing as Early as 3 Months of Age Thu, 27 Mar 2014 16:14:54 +0000 http://www.hindawi.com/journals/cripe/2014/296479/ Familial Mediterranean Fever is an autosomal recessive disease. Major symptoms of disease are recurrent fever accompanied by serositis attacks. The disease is usually diagnosed before 20 years of age. Symptoms related to FMF are noted when children become more verbal, usually after 2 years of age. In this case report, the youngest patient with the diagnosis of FMF is presented. She was consulted to pediatric rheumatology for the high acute phase response and fever. It was learned that her mother had recurrent swelling of her ankle joints. Mutation analysis was performed and two homozygous mutations (M694V and R202Q) were identified. She was diagnosed as FMF at 3 months of age and colchicine was started. She responded to colchicine. Her uncontrolled acute phase response declined gradually. This case was reported to point out the importance of early remembrance of autoinflammatory diseases even at very early ages especially at endemic countries. Gonca Keskindemirci, Nuray Aktay Ayaz, Esin Aldemir, Çiğdem Aydoğmuş, Gönül Aydoğan, and Sultan Kavuncuoğlu Copyright © 2014 Gonca Keskindemirci et al. All rights reserved. Nonconvulsive Status Epilepticus Complicating Epstein-Barr Virus Encephalitis in a Child Wed, 12 Mar 2014 09:51:57 +0000 http://www.hindawi.com/journals/cripe/2014/547396/ Children with acute encephalopathy show prolonged electrographic seizure activity consistent with nonconvulsive status epilepticus (NCSE). Pediatric NCSE is a heterogeneous clinical entity with poor outcome and different etiologies, including central nervous system infection, stroke, toxic-metabolic syndrome, and epileptic syndrome. We report a 4-year-old girl with seizure and behavioral changes in whom the analysis of cerebrospinal fluid by polymerase chain reaction was positive for Epstein-Barr virus. We emphasize the importance of electroencephalography (EEG), and particularly, of continuous EEG monitoring for early recognition and appropriate treatment of this condition. Filippo Greco, Maria Donatella Cocuzza, Pierluigi Smilari, Giovanni Sorge, and Lorenzo Pavone Copyright © 2014 Filippo Greco et al. All rights reserved. Development of Localized Pulmonary Interstitial Emphysema in a Late Preterm Infant without Mechanical Ventilation Tue, 11 Mar 2014 13:53:22 +0000 http://www.hindawi.com/journals/cripe/2014/429797/ Pulmonary interstitial emphysema (PIE) is not an uncommon finding in premature infants with respiratory distress who need respiratory support by mechanical ventilation. PIE has been reported in a few cases of neonates in whom either no treatment other than room air was given or they were given continuous positive end-expiratory pressure (CPAP) support. We present a case of a premature neonate who presented with respiratory distress, in whom PIE and spontaneous pneumothorax (PTX) developed while on CPAP therapy only. The patient was treated conservatively with subsequent resolution of the radiological findings and clinical improvement. No surgical intervention was required. It is important to know that PIE may develop independently of mechanical ventilation. We would like to add this case to the literature and describe the pertinent plain film and computed tomography (CT) findings of this entity, the possible mechanism of development, and the differential diagnosis. A review of the literature is also provided. Pritish Bawa, Kultida Soontarapornchai, Agnes Perenyi, Rachelle Goldfisher, and John Amodio Copyright © 2014 Pritish Bawa et al. All rights reserved. Membranoproliferative Glomerulonephritis and X-Linked Agammaglobulinemia: An Uncommon Association Tue, 04 Mar 2014 12:35:10 +0000 http://www.hindawi.com/journals/cripe/2014/480947/ Introduction. X-linked agammaglobulinemia (XLA) is a primary immunodeficiency characterized by agammaglobulinemia requiring replacement treatment with immunoglobulin. The association of XLA and membranoproliferative glomerulonephritis (MPGN) is unexpected and, to our knowledge, only one case was previously published. Case Report. The authors report the case of a 10-year-old boy with family history and prenatal diagnosis of XLA, treated from birth with intravenous immunoglobulin replacement therapy. He presented with pneumonia, macroscopic hematuria, nephrotic proteinuria, hypoalbuminemia, and hypercholesterolemia with normal renal function and serum complement levels. Renal histology showed immune complex mediated MPGN. He was started on high dose prednisolone and ramipril and switched to weekly subcutaneous immunoglobulin. After a 4-month treatment, hematuria and proteinuria significantly improved and prednisolone was gradually tapered without relapse. Conclusion. The pathogenic process underlying MPGN development in this patient is unknown but residual humoral immunity might play an important role. Thus, this case highlights the risk of autoimmune disorders among patients with XLA. Vasco Lavrador, Filipa Correia, Rita Sampaio, Cristina Cândido, Maria Sameiro-Faria, Laura Marques, and Conceição Mota Copyright © 2014 Vasco Lavrador et al. All rights reserved. Neonatal Hepatitis as First Manifestation of Hyperimmunoglobulinemia D Syndrome Mon, 03 Mar 2014 06:27:35 +0000 http://www.hindawi.com/journals/cripe/2014/936890/ Hyper IgD syndrome (HIDS) is a rare metabolic autoinflammatory syndrome characterised by recurrent febrile episodes, accompanied by various inflammatory symptoms. We present a case of severe HIDS in a young girl, whose symptoms started in the neonatal period with hepatomegaly, hepatitis, thrombocytopenia, and conjugated hyperbilirubinemia. From the age of five months, the child had recurrent febrile episodes, stomatitis, adenitis, and persistent hepatomegaly. The diagnosis of HIDS was established when she was three years and eight months old. This case report suggests that HIDS should be included in the differential diagnosis of neonatal hepatitis and conjugated hyperbilirubinemia. Marie-Louise von Linstow and Vibeke Rosenfeldt Copyright © 2014 Marie-Louise von Linstow and Vibeke Rosenfeldt. All rights reserved. A Giant Pedunculated Urothelial Polyp Mimicking Bladder Mass in a Child: A Rare Case Sun, 23 Feb 2014 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2014/935850/ Ureteral fibroepithelial polyps are rarely seen benign tumors with mesodermal origin. These polyps can involve kidney, pelvis, ureter, bladder, and urethra. The most common symptoms are hematuria and flank pain. The choice of treatment is either endoscopic or surgical resection of polyp by sparing kidney. Here, we presented a pediatric case with giant, fibroepithelial polyp that mimics bladder tumor, originating from middle segment of the ureter. Mehmet Kaba, Sultan Kaba, Tacettin Yekta Kaya, Hüseyin Eren, and Necip Pirinççi Copyright © 2014 Mehmet Kaba et al. All rights reserved. Neonatal Citrobacter koseri Meningitis: Report of Four Cases Wed, 19 Feb 2014 11:59:55 +0000 http://www.hindawi.com/journals/cripe/2014/195204/ Citrobacter koseri is a rare cause of neonatal meningitis with predisposal for brain abscesses, and therefore responsible for high mortality and serious neurologic sequelae in this age group. We present the evolution and outcome of four cases of C. koseri meningitis. One of them developed brain abscesses and another one died. The cases show the bacteria's propensity for serious brain damage, despite early and adequate treatment, and the high risk of long-term neurologic complications in survivors, which imposes a close follow-up. Joana Rodrigues, Dalila Rocha, Fátima Santos, and Anabela João Copyright © 2014 Joana Rodrigues et al. All rights reserved. Acute Liver Failure Secondary to Niacin Toxicity Wed, 12 Feb 2014 09:24:11 +0000 http://www.hindawi.com/journals/cripe/2014/692530/ A 17-year-old male was transferred to the pediatric intensive care unit for evaluation of acute liver failure. He was recently released from an alcohol treatment center with acute onset of chest pain. Cardiac workup was negative but he was found to have abnormal coagulation studies and elevated liver transaminases. Other evaluations included a normal toxicology screen and negative acetaminophen level. Autoimmune and infectious workups were normal providing no identifiable cause of his acute liver failure. He initially denied any ingestions or illicit drug use but on further query he admitted taking niacin in an attempt to obscure the results of an upcoming drug test. Niacin has been touted on the Internet as an aid to help pass urine drug tests though there is no evidence to support this practice. Niacin toxicity has been associated with serious multisystem organ failure and fulminant hepatic failure requiring liver transplantation. Pediatric providers should be aware of the risks associated with niacin toxicity and other experimental medical therapies that may be described on the Internet or other nonreputable sources. Marc A. Ellsworth, Katelyn R. Anderson, David J. Hall, Deborah K. Freese, and Robin M. Lloyd Copyright © 2014 Marc A. Ellsworth et al. All rights reserved. A Spinal Arteriovenous Fistula in a 3-Year Old Boy Wed, 12 Feb 2014 08:56:39 +0000 http://www.hindawi.com/journals/cripe/2014/696703/ We present a case of a 3-year-old boy with neurodegeneration. Family history reveals Rendu-Osler-Weber disease. Magnetic resonance imaging (MRI) of the spinal cord and spinal angiography showed a spinal arteriovenous fistula with venous aneurysm, causing compression of the lumbar spinal cord. Embolisation of the fistula was executed, resulting in clinical improvement. A week after discharge he was readmitted with neurologic regression. A second MRI scan revealed an intraspinal epidural haematoma and increase in size of the aneurysm with several new arterial feeders leading to it. Coiling of the aneurysm and fistulas was performed. Postoperative, the spinal oedema increased despite corticoids, causing more extensive paraplegia of the lower limbs and a deterioration of his mental state. A laminectomy was performed and the aneurysm was surgically removed. Subsequently, the boy recovered gradually. A new MRI scan after two months showed less oedema and a split, partly affected spinal chord. This case shows the importance of excluding possible arteriovenous malformations in a child presenting with progressive neurodegeneration. In particular when there is a family history for Rendu-Osler-Weber disease, scans should be performed instantly to rule out this possibility. The case also highlights the possibility of good recovery of paraplegia in paediatric Rendu-Osler-Weber patients. Thomas E. M. Crijnen, Sandra van Gijlswijk, Jozef De Dooy, Maurits H. J. Voormolen, Dominique Robert, Philippe G. Jorens, and Jose Ramet Copyright © 2014 Thomas E. M. Crijnen et al. All rights reserved. Acute Neonatal Parotitis with Late-Onset Septic Shock due to Streptococcus agalactiae Wed, 05 Feb 2014 06:27:18 +0000 http://www.hindawi.com/journals/cripe/2014/689678/ Acute neonatal parotitis (ANP) is a very rare disease. Most cases are managed conservatively; early antibiotics and adequate hydration may reduce the need for surgery. The most common cause of ANP is Staphylococcus aureus. We report a rare case of acute neonatal parotitis with late-onset septic shock due to Streptococcus agalactiae. The diagnosis was confirmed with ultrasound and isolation of Streptococcus agalactiae from blood culture. The patient was treated successfully with 10 days of intravenous antibiotics and supportive measures. Despite being rare, streptococcal ANP should be considered in the etiological diagnosis of neonatal sepsis. Early diagnosis and appropriate antibiotic might prevent serious complications. M. Boulyana Copyright © 2014 M. Boulyana. All rights reserved. Hyperparathyroidism Two Years after Radioactive Iodine Therapy in an Adolescent Male Thu, 30 Jan 2014 11:10:02 +0000 http://www.hindawi.com/journals/cripe/2014/163848/ Primary hyperparathyroidism is a very rare complication following radioactive iodine therapy. There is typically a latency period of more than a decade following radiation exposure and, therefore, it is observed almost exclusively in adults. Consequently, pediatricians are not aware of the association. We present a case of primary hyperparathyroidism due to a solitary parathyroid adenoma occurring in an adolescent male two years following radioactive iodine treatment for papillary thyroid carcinoma. Periodic screening of serum calcium following ablative doses of radioactive iodine for thyroid cancer may be justified even in adolescents. Danielle L. Gomez and Dorothy I. Shulman Copyright © 2014 Danielle L. Gomez and Dorothy I. Shulman. All rights reserved. Axillary Artery Thrombosis in a Neonate In Utero: A Case Report Tue, 28 Jan 2014 11:16:06 +0000 http://www.hindawi.com/journals/cripe/2014/417147/ We describe a neonate of 38-week and 6-day gestation born by lower uterine cesarean section for breech presentation, where it was evident on delivery that there was significant edema of the right arm from the deltoid to the distal tips of the fingers. Doppler flow ultrasound revealed extensive arterial thromboembolus. Intravenous heparin was prescribed for three days at a dose of 27.5 U/kg/h, targeting an activated partial thromboplastin time (APTT) of 60–75 seconds, followed by a course of subcutaneous enoxaparin at a dose of 1.8 mg/kg and then 2 mg/kg twice daily, titrated to a factor Xa level of 0.5–1.0 U/mL for another three days. Significant clinical improvement occurred and the child was eventually, discharged on subcutaneous enoxaparin. Magnetic resonance imaging showed multiple intracranial abnormalities. At five months increased upper limb tone, brisk reflexes, and small head circumference were noted. At one year, increased tone and increased paucity of movement on the right side persisted, and some speech delay and visual inattention were noted. Recent follow-up at 16.5 months of age demonstrated a right sided hemiplegia with increased tone and brisk reflexes. We describe the case in detail and review current knowledge regarding the management of arterial thrombosis in the neonate. A. Szvetko, E. Hurrion, A. Dunn, S. Fasihullah, and S. Withers Copyright © 2014 A. Szvetko et al. All rights reserved. A Treatable Neurometabolic Disorder: Glutaric Aciduria Type 1 Mon, 27 Jan 2014 13:20:24 +0000 http://www.hindawi.com/journals/cripe/2014/256356/ Glutaric aciduria type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. It results in the accumulation of 3-hydroxyglutaric and glutaric acid. Affected patients can present with brain atrophy and macrocephaly and with acute dystonia secondary to striatal degeneration in most cases triggered by an intercurrent childhood infection with fever between 6 and 18 months of age. We report two such cases with macrocephaly, typical MRI pictures, and tandem mass spectrometry suggestive of glutaric aciduria type 1. S. Pusti, N. Das, K. Nayek, and S. Biswas Copyright © 2014 S. Pusti et al. All rights reserved. Cooling in Surgical Patients: Two Case Reports Thu, 16 Jan 2014 11:52:49 +0000 http://www.hindawi.com/journals/cripe/2014/230520/ Moderate induced hypothermia has become standard of care for children with peripartum hypoxic ischaemic encephalopathy. However, children with congenital abnormalities and conditions requiring surgical intervention have been excluded from randomised controlled trials investigating this, in view of concerns regarding the potential side effects of cooling that can affect surgery. We report two cases of children, born with congenital conditions requiring surgery, who were successfully cooled and stabilised medically before undergoing surgery. Our first patient was diagnosed after birth with duodenal atresia after prolonged resuscitation, while the second had an antenatal diagnosis of left-sided congenital diaphragmatic hernia and suffered an episode of hypoxia at birth. They both met the criteria for cooling and after weighing the pros and cons, this was initiated. Both patients were medically stabilised and successfully underwent therapeutic hypothermia. Potential complications were investigated for and treated as required before they both underwent surgery successfully. We review the potential side effects of cooling, especially regarding coagulation defects. We conclude that newborns with conditions requiring surgery need not be excluded from therapeutic hypothermia if they might benefit from it. Bibi F. Gurreebun, Christos S. Zipitis, Ngozi E. Edi-Osagie, Ian M. Dady, and Axel Sylvan Copyright © 2014 Bibi F. Gurreebun et al. All rights reserved. Splenic Abscess: A Rare Complication of the UVC in Newborn Wed, 08 Jan 2014 16:19:28 +0000 http://www.hindawi.com/journals/cripe/2014/903421/ Splenic abscess is one of the rarest complications of the UVC in a newborn and it is hypothesized that it could be due to an infection or trauma caused by a catheter. The case that is being reported presented with abdominal distension and recurrent desaturation with suspicion of neonatal sepsis versus necrotizing enterocolitis. However, the final diagnosis was splenic abscess as a complication of an inappropriate UVC insertion which was discovered by abdominal ultrasound. The patient was given broad spectrum antibiotics empirically and the symptoms were resolved without any surgical intervention. Such cases and controlled studies need to be reported in order to identify further causes and risk factors associated with splenic abscess in a patient with UVC which can eventually help us adopt preventive strategies to avoid such complications. Ameer Aslam, Emad Sadek Ahmed Shatla, Sameera Imanullah, and Elsaid M. A. Bedair Copyright © 2014 Ameer Aslam et al. All rights reserved. Cernunnos/XLF Deficiency: A Syndromic Primary Immunodeficiency Wed, 08 Jan 2014 12:29:02 +0000 http://www.hindawi.com/journals/cripe/2014/614238/ Artemis, DNA ligase IV, DNA protein kinase catalytic subunit, and Cernunnos/XLF genes in nonhomologous end joining pathways of DNA repair mechanisms have been identified as responsible for radiosensitive SCID. Here, we present a 3-year-old girl patient with severe growth retardation, bird-like face, recurrent perianal abscess, pancytopenia, and polydactyly. Firstly, she was thought as Fanconi anemia and spontaneous DNA breaks were seen on chromosomal analysis. After that DEB test was found to be normal and Fanconi anemia was excluded. Because of that she had low IgG and IgA levels, normal IgM level, and absence of B cells in peripheral blood; she was considered as primary immunodeficiency, Nijmegen breakage syndrome. A mutation in NBS1 gene was not found; then Cernunnos/XLF deficiency was investigated due to clinical similarities with previously reported cases. Homozygous mutation in Cernunnos/XLF gene (NHEJ1) was identified. She is now on regular IVIG prophylaxis and has no new infection. Fully matched donor screening is in progress for bone marrow transplantation which is curative treatment of the disease. In conclusion, the patients with microcephaly, bird-like face, and severe growth retardation should be evaluated for hypogammaglobulinemia and primary immunodeficiency diseases. Funda Erol Çipe, Cigdem Aydogmus, Arzu Babayigit Hocaoglu, Merve Kilic, Gul Demet Kaya, and Elif Yilmaz Gulec Copyright © 2014 Funda Erol Çipe et al. All rights reserved. Serotonin Syndrome after Sertraline Overdose in a Child: A Case Report Thu, 19 Dec 2013 15:28:15 +0000 http://www.hindawi.com/journals/cripe/2013/897902/ Serotonin syndrome is a potentially life-threatening drug effect. It may be misdiagnosed because it has mostly been reported in adults. Case Report. An 8-year-old girl with behavioral problems and medicated with risperidone and sertraline was admitted in the emergency department after she had taken voluntarily 1500 mg of sertraline (50 mg/kg). At admission, she had marked agitation, visual hallucinations, diaphoresis, flushing, and tremor. She had fever and periods of hypertension. She also showed generalized rigidity and involuntary movements. She was treated with fluids and iv diazepam, midazolam, clemastine, and biperiden. As the patient presented a severe insomnia and a progressive rhabdomyolysis, she was transferred to pediatric intensive care unit (ICU), where she was under treatment with cyproheptadine, mechanical ventilation, and muscular paralysis for 11 days. She was discharged from hospital a few days later with no neurological sequelae. Conclusions. Serotonin syndrome is still not well recognized by physicians. In our patient, the diagnosis was made early due to the history of overdose with serotonin reuptake inhibitors and the triad of mental, neurological, and autonomic signs. Parents must be educated to prevent children from having free access to drugs, avoiding self-medication or overdose. Joana Grenha, Ana Garrido, Hernani Brito, Maria José Oliveira, and Fátima Santos Copyright © 2013 Joana Grenha et al. All rights reserved. Subacute Sclerosing Panencephalitis in a Toddler: Changing Epidemiological Trends Thu, 12 Dec 2013 18:21:44 +0000 http://www.hindawi.com/journals/cripe/2013/341462/ Subacute sclerosing panencephalitis (SSPE) is a devastating “slow virus” brain disease resulting from persistent measles virus infection of neurons. The age at presentation is usually 8 to 11 years with onset usually occurring 2–10 years after measles infection. We report a 2-and-half-year-old boy who presented with progressively increasing myoclonic jerks and subtle cognitive decline. He was diagnosed as a case of SSPE based on clinical features, typical electroencephalographic finding, and elevated cerebrospinal fluid/serum measles antibody titers. He had measles 4 months prior to onset of symptoms. This case along with review of recently published reports suggests progressively decreasing latency period between measles infection and onset of symptoms observed in cases with SSPE. Clinical implication would mean investigating for SSPE even in infants or toddlers with compatible clinical features and recent history of measles infection. Roosy Aulakh and Abhimanyu Tiwari Copyright © 2013 Roosy Aulakh and Abhimanyu Tiwari. All rights reserved. Pemphigus Foliaceus in an 11-Year-Old Mexican Girl with Response to Oral Dapsone Thu, 12 Dec 2013 09:07:22 +0000 http://www.hindawi.com/journals/cripe/2013/291256/ Pemphigus foliaceus (PF) is rarely described in the pediatric population with less than 40 cases reported in the literature. We report the case of an 11-year-old girl who was diagnosed with PF after 6 months of starting with symptoms and who responded well to therapy with oral dapsone. Although therapeutic guidelines for PF in children are lacking, oral corticosteroids in combination with dapsone have proven to be effective as first-line treatment in this setting. Martha Elena García-Meléndez, Kristian Eichelmann, Julio César Salas-Alanís, Minerva Gomez-Flores, and Jorge Ocampo-Candiani Copyright © 2013 Martha Elena García-Meléndez et al. All rights reserved. Neuromyelitis Optica in Child: Diagnostic and Therapeutic Challenges Wed, 11 Dec 2013 13:29:29 +0000 http://www.hindawi.com/journals/cripe/2013/124929/ Neuromyelitis optica (NMO) is a rare syndrome of severe inflammatory demyelination of the central nervous system, causing attacks of optic neuritis and transverse myelitis. Although uncommon, attention should be given to the proper identification and management of the affected patients. We present a case of a 13-year-old girl with severe neuromyelitis optica. The patient’s initial presentation consisted of encephalopathy and optic neuritis. Approximately 2 months later, coinciding with the weaning of steroid treatment, she presented with ascending paralysis and respiratory failure. She was seropositive for NMO-IgG. Treatment included intravenous immune globulin, steroids, plasmapheresis, and rituximab and was complemented with proper nutrition, vitamins, minerals, and intense rehabilitation. Two years after the initial presentation and one short relapse, the patient has made a remarkable recovery without neurologic deficit. This report underscores the difficulty in making the initial diagnosis, choosing the best treatment, and the need for more streamlined pediatric guidelines for diagnosis, treatment, and prevention of relapses of pediatric NMO. Karolina Dembinski, Maria Gieron-Korthals, Carlos R. Martinez, and Lisa Rodriguez Copyright © 2013 Karolina Dembinski et al. All rights reserved. Successful Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-Debré-Fanconi Syndrome Tue, 10 Dec 2013 18:03:38 +0000 http://www.hindawi.com/journals/cripe/2013/354314/ Primary de Toni-Debré-Fanconi syndrome is a non-FGF23-mediated hypophosphatemic disorder due to a primary defect in renal proximal tubule cell function resulting in hyperphosphaturia, renal tubular acidosis, glycosuria, and generalized aminoaciduria. The orthopaedic sequela and response to treatment of this rare disorder are limited in the literature. Herein we report a long term followup of a 10-year-old female presenting at 1 year of age with rickets initially misdiagnosed as vitamin D deficiency rickets. She was referred to the metabolic bone and genetics clinics at 5 years of age with severe genu valgum deformities of 24 degrees and worsening rickets. She had polyuria, polydipsia, enuresis, and bone pain. Diagnosis of hypophosphatemic rickets due to de Toni-Debré-Fanconi syndrome was subsequently made. Respiratory chain enzyme analysis identified a complex I mitochondrial deficiency as the underlying cause. She was treated with phosphate (50–70 mg/kg/day), calcitriol (30 ng/kg/day), and sodium citrate with resolution of bone pain and normal growth. By 10 years of age, her genu valgus deformities were 4 degrees with healing of rickets. Her excellent orthopaedic outcome despite late proper medical therapy is likely due to the intrinsic renal tubular defect that is more responsive to combined alkali, phosphate, and calcitriol therapy. Sasigarn A. Bowden, Hiren P. Patel, Allan Beebe, and Kim L. McBride Copyright © 2013 Sasigarn A. Bowden et al. All rights reserved. Fetal Limb Ischaemia in Twin-to-Twin Transfusion Syndrome Mon, 09 Dec 2013 18:24:53 +0000 http://www.hindawi.com/journals/cripe/2013/278726/ Objective. To describe the rare association between prenatal vascular limb occlusion and twin-to-twin transfusion syndrome. The Case. A woman with severe twin-to-twin transfusion syndrome was treated with fetoscopic laser ablation at 19-week gestation. At 27 weeks, the twins were delivered by an emergency caesarean section. The right arm of twin 1, the recipient twin, was noted to be “ischaemic” and was later amputated. Conclusion. This case is unusual in that it affected the upper limb and there was no evidence of polycythaemia, which is a suggested pathological mechanism. It was initially thought that the limb damage was due to the laser ablation, but after discussion with the fetal medicine team vascular limb occlusion in association with twin-to-twin transfusion syndrome was considered. Limb ischaemia is a serious complication of twin-to-twin transfusion syndrome and is unrelated to any form of fetal therapy. Implications. Neonatologists and paediatricians need to be aware of this association as it has medicolegal implications and parents should be counselled as to the possible, albeit rare, occurrence, especially when twin-to-twin transfusion syndrome is of advanced stage at presentation. Mark Kilby, Rachel Pounds, and Paul Mannix Copyright © 2013 Mark Kilby et al. All rights reserved. Choking at Night: A Case of Opercular Nocturnal Frontal Lobe Epilepsy Thu, 05 Dec 2013 14:30:57 +0000 http://www.hindawi.com/journals/cripe/2013/606385/ Frontal lobe seizures have a tendency to occur in sleep and in most cases occur exclusively insleep; these individuals are said to have nocturnal frontal lobe (NFLE). NFLE can be difficult to distinguish clinically from various other sleep disorders, particularly parasomnias, which also present with paroxysmal motor activity in sleep. Interictal and ictal EEG findings are frequently unremarkable or nonspecific in both parasomnias and NFLE making the diagnosis even more difficult. Nocturnal epilepsy should be suspected in patients with paroxysmal events at night characterized by high frequency, repetition, extrapyramidal features, and marked stereotypy of attacks. Here we present a 13-year-old female who was extensively worked up for choking episodes at night. On repeat video EEG she was found to have frontal opercular seizures. Once on Carbamazepine, her seizures completely resolved. Geetanjali Rathore, Paul Larsen, Manish Parakh, and Cristina Fernandez Copyright © 2013 Geetanjali Rathore et al. All rights reserved. The Hereditary Hyperferritinemia-Cataract Syndrome in 2 Italian Families Wed, 04 Dec 2013 13:43:12 +0000 http://www.hindawi.com/journals/cripe/2013/806034/ Two 8- and 9-year-old brothers were referred to the Pediatric Oncology Unit, Perugia General Hospital, because of hyperferritinemia. Both had a history of bilateral cataract and epilepsy. Genetic investigation revealed two distinct mutations in iron haemostasis genes; homozygosity for the HFE gene H63D mutation in the younger and heterozygosity in the elder. Both displayed heterozygosity for C33T mutation in the ferritin light chain iron response element. A 7-year-old boy from another family was referred to our unit because of hyperferritinemia. Genetic analyses did not reveal HFE gene mutations. Family history showed that his mother was also affected by hyperferritinemia without HFE gene mutations. Magnetic resonance imaging in the mother was positive for iron overload in the spleen. Cataract was diagnosed in mother and child. Further genetic investigation revealed the C29G mutation of the ferritin light chain iron response element. C33T and C29G mutations in the ferritin light chain iron response element underlie the Hereditary Hyperferritinemia-Cataract Syndrome (HHCS). The HFE gene H63D mutation underlies Hereditary Haemochromatosis (HH), which needs treatment to prevent organ damages by iron overload. HHCS was definitively diagnosed in all three children. HHCS is an autosomal dominant disease characterized by increased L-ferritin production. L-Ferritin aggregates accumulate preferentially in the lens, provoking bilateral cataract since childhood, as unique known organ damage. Epilepsy in one case and the spleen iron overload in another could suggest the misleading diagnosis of HH. Consequently, the differential diagnosis between alterations of iron storage system was essential, particularly in children, and required further genetic investigation. Katia Perruccio, Francesco Arcioni, Carla Cerri, Roberta La Starza, Donatella Romanelli, Ilaria Capolsini, and Maurizio Caniglia Copyright © 2013 Katia Perruccio et al. All rights reserved. Radiofrequency Ablation of a Left Atrial Appendage Tachycardia on ECMO Support Thu, 28 Nov 2013 10:46:04 +0000 http://www.hindawi.com/journals/cripe/2013/203241/ Extracorporeal membrane oxygenation (ECMO) has been utilized in the pediatric population for cardiogenic shock secondary to medically intractable arrhythmias. There is limited experience with cardiac radiofrequency ablation (RFA) on these patients while on ECMO. A 7-year-old girl presented with a tachycardia-mediated cardiomyopathy secondary to a left atrial appendage tachycardia. She suffered a cardiac arrest due to pulseless electrical activity and was placed on ECMO. Due to elevated left atrial pressures and the refractoriness of her arrhythmia to cardioversion and antiarrhythmic therapy, while on ECMO, blade atrial septostomy and radiofrequency ablation were performed. The patient tolerated the procedure well and was successfully decannulated. Her cardiac function normalized within four weeks of the ablation procedure. Twelve months after the procedure, she remains completely well, with no symptoms or tachycardia. Mohsin Khan, Andre Gauri, Ronald Grifka, and Darryl Elmouchi Copyright © 2013 Mohsin Khan et al. All rights reserved. Rare Case of a Chondrosarcoma of the Mandible in a Child Mon, 18 Nov 2013 10:50:49 +0000 http://www.hindawi.com/journals/cripe/2013/837617/ Chondrosarcoma of the mandible is rare, especially in children. The available literature consists mostly of a few case reports which are partly integrated in small studies. Growing this small pool of literature is helpful in solidifying knowledge about this disease and facilitating appropriate treatment for children. Therefore, we present such a case in a 12-year-old boy, exhibit comprehensive and relevant information concerning this entity, and discuss our findings in the context of other publications. Hendryk Vieweg, Jan Thiess Deichen, Fabian Scheer, Reimer Andresen, and Roland Talanow Copyright © 2013 Hendryk Vieweg et al. All rights reserved. Psoriasiform Drug Eruption Associated with Sodium Valproate Wed, 13 Nov 2013 15:58:32 +0000 http://www.hindawi.com/journals/cripe/2013/823469/ As psoriasis is a common skin disorder, knowledge of the factors that may induce, trigger, or exacerbate the disease is of primary importance in clinical practice. Drug intake is a major concern in this respect, as new drugs are constantly being added to the list of factors that may influence the course of the disease. We report a patient with a psoriasiform drug eruption associated with the use of sodium valproate. Physicians should be aware of this type of reaction. Early detection of these cases has practical importance since the identification and elimination of the causative drug are essential for therapy success. Gulen Gul Mert, Faruk Incecik, Suhan Gunasti, Ozlem Herguner, and Sakir Altunbasak Copyright © 2013 Gulen Gul Mert et al. All rights reserved. A Case of Mild Encephalopathy with a Reversible Splenial Lesion Associated with G5P[6]Rotavirus Infection Wed, 13 Nov 2013 12:00:25 +0000 http://www.hindawi.com/journals/cripe/2013/197163/ We report a case of mild encephalopathy with a reversible splenial lesion (MERS) associated with acute gastroenteritis caused by rotavirus (RV) infection. The patient (male, 4 years and 3 months old) was admitted to our hospital for diarrhea and afebrile seizures. Head MRI revealed a hyperintense signal in the splenium of the corpus callosum on DWI and a hypointense signal on the ADC-map. After awakening from sedation, the patient's disturbance of consciousness improved. On day 5 after admission of the illness, the patient was discharged from the hospital in a good condition. Electroencephalography on day 2 after admission was normal. On day 8 of admission, head MRI revealed that the splenial lesion had disappeared. RV antigen-positive stools suggested that RV had caused MERS. This RV genotype was considered to be G5P[6]; it may have spread to humans as a strain reassortment through substitution of porcine RV into human RV gene segments. This extremely rare genotype was detected first in Japan and is not covered by existing vaccines; this is the first sample isolated from encephalopathy patients. Few reports have investigated RV genotypes in encephalopathy; we believe that this case is valuable for studying the relationship between genotypes and clinical symptoms. Tsuyoshi Matsuoka, Toshifumi Yodoshi, Misaki Sugai, Masato Hiyane, Takashi Matsuoka, Hideki Akeda, Masaharu Ohfu, Satoshi Komoto, and Koki Taniguchi Copyright © 2013 Tsuyoshi Matsuoka et al. All rights reserved. Severe Hemorrhage from the Umbilical Cord at Birth: A Preventable Cause of Neonatal Shock Mon, 04 Nov 2013 10:01:11 +0000 http://www.hindawi.com/journals/cripe/2013/317627/ Posthemorrhagic anemia is a rare but important cause of anemia in neonates, second only to hemolytic anemia of newborn. Most cases of posthemorrhagic anemia are reported from fetomaternal hemorrhage or umbilical cord accidents in utero. This case report describes a preterm infant who developed severe anemia and shock immediately after delivery related to an acute hemorrhage through patent umbilical cord vessels secondary to a tear in the umbilical cord at the site of cord clamping. We believe that umbilical cord bleeding from errors in cord clamping could be an important cause of acute blood loss in the delivery room and that it may result in significant clinical morbidity, especially in extremely premature infants. Neetu Singh and Gautham Suresh Copyright © 2013 Neetu Singh and Gautham Suresh. All rights reserved.