Τριμηνιαία
MD,
Π. Παναγιωτοπούλου-Γαρταγάνη
Α. Παπαδοπούλου
Β. Παπαευαγγέλου
Α. Παπαθανασίου
Α. Σιαμοπούλου-Μαυρίδου
Α. Συρίγου-Παπαβασιλείου
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Volume 76 • Number 1 • January-February-March 2013
Trimonthly publication of the Greek Paediatric Society
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REVIEW ARTICLES
Neuropsychological profile of idiopathic epileptic syndromes in childhood
Dimitrios I. Zafeiriou, Pinelopi Dragoumi, Eleftherios Kontopoulos
Dyslexia genes?
Filippos Vlachos & Julia Nisiotou-Mantelou
Thrombocytosis in childhood
Vaia Papageorgiou, Marina Oikonomou
Abnormal retinal reflex in children
Maria Tsimpida, MD, PhD.
Sarcoidosis in infancy and early childhood; a brief literature review
Despoina Maritsi, Helen Dana, Lydia Kossiva
ORIGINAL ARTICLES
Thyroid dysfunction in children with epilepsy under valproic sodium treatment
Meropi Tzoufi, Margarita Papassava, Iliada Nakou, Stefania Makariou, Vasilios Giapros, Helen Bairaktari, Antigone Siamopoulou - Mavridou
PRACTICAL ISSUE
The use of barcodes in health
Papadopoulou Magdalini, MSC
CASE REPORTS
Aseptic meningitis due to west nile virus in a 12-year old child
Michailidou Elisavet, Antoniou Antonia, John Th. Kavaliotis
A patient with a-mannosidosis
Vargiami Εfthimia,Zafeiriou I. Dimitrios, Batzios Spiridon, A. Anastasiou, Badouraki Maria, E. Dimitriou, Michelakaki Eleni
Huge breast mass in a 13-years-old girl: phyllodes tumour or giant fibroadenoma?
Anna Poupalou, Jean-Stephane Valla
A case of methylmalonic aciduria with combined homocystinemia and cobalamin C (CblC) deficiency
Ek. Martinopoulou, V. Papavasiliou, A. Andreou
BOOK REVIEW
Pediatric and Adolescent Primary Care
Μaria Εmporiadou-Petikopoulou
Abstract
Dimitrios I. Zafeiriou
Pinelopi Dragoumi
Eleftherios Kontopoulos
1st Department of Pediatrics, “Hippokration” General Hospital of Thessaloniki
Division of Developmental Pediatrics “A. Fokas”
Dimitrios I. Zafeiriou, Pinelopi Dragoumi, Eleftherios Kontopoulos
Epilepsy does not represent a single disease as it comprises of multiple epileptic syndromes sharing the common feature of the occurrence of epileptic seizures but presenting with distinct clinical and EEG characteristics and variable etiologies; thus epilepsy does not cause a specific template of neuropsychological disturbance. In contrast, the cognitive profile of children with epilepsy ranges greatly from being totally normal to being very seriously disturbed, depending on multiple variables such as the symptomatic or idiopathic etiology of the seizures and the epileptic syndrome itself, the age at seizure onset as well as the frequency of seizures and the degree of the patient’s response to treatment. Also, independent factors have been proven to cause transient and potentially reversible damage regarding the cognitive and behavioral functions of patients with epilepsy, such as some of the antiepileptic drugs used for controlling seizures or the underlying epileptic activity as recorded in the EEG of patients in the post-ictal and inter-ictal period. In the present review article we attempt to highlight the main neuropsychological comorbidities described in the course of the most common idiopathic generalized and partial epilepsies in childhood.
Keywords: neuropsychology, cognitive function, idiopathic epileptic syndromes, childhood
1,
546 22,
6944913556, 2310223150 e-mail: ezlouis@gmail.com
Correspodence
Pinelopi Dragoumi
1 I. Michail St., PO Box 546 22 Thessaloniki, Greece
Tel.: 6944913556, 2310223150
e-mail: ezlouis@gmail.com
Behavior Checklist
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Φίλιππος
Abstract
Filippos Vlachos1,2
University of Thessaly, Volos, Greece
University of Patra, Patra, Greece
Julia Nisiotou-Mantelou1
University of Thessaly, Volos, Greece
Filippos Vlachos1,2
& Julia Nisiotou-Mantelou1
Our knowledge concerning the biological basis of dyslexia has significantly increased during the past few years, due to the ability to use sophisticated genetic analysis methods in order to identify genes implicated in the pathogenesis of dyslexia. The goal of this article is to provide a brief overview of recent research findings concerning the location and the specific role of genes that relate to dyslexia. The studies so far have revealed 12 chromosomal loci and 13 “candidate” genes. They showed that none of the “dyslexia genes” are expressed exclusively within a particular cognitive area; on the contrary, they seem to influence basic processing of brain development and functioning. The correlation of the above findings offers the opportunity for a better understanding of the dyslexia heterogeneity, while it provides a framework for the interpretation of the comorbidity of dyslexia with other learning difficulties and developmental disabilities.
Key words: Dyslexia, Genes, Brain
Αλληλογραφία
Ιουλία Νησιώτου-Μαντέλου
Αργοναυτών & Φιλελλήνων, 38221 Βόλος
Τηλ.: 2421074839
e-mail: nisiotou@uth.gr
Correspodence
Julia Nisiotou-Mantelou, Argonafton & Filellinon, 38221 Volos, Greece
Τel.: +302421074839
e-mail: nisiotou@uth.gr
C2ORF3 στον τόπο 2p11-16 (14). Επίσης, με χαρτογράφηση χρωμοσωμικών
(15) και
ROBO1 στον τόπο 3p12. (16). Πρόσφατα
PCNT, DIP2A, S100B,
(FISH)
3p12-q13
6q11.2-q12
6p21.3-p22
11p15.5
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Abstract
Vaia Papageorgiou, Marina Oikonomou
1st Pediatric Clinic A.U.TH., Hippocratio Hospital, Thessaloniki
Vaia Papageorgiou, Marina Oikonomou
Thrombocytosis is quite a common finding in childhood which usually concerns the clinician. According to its pathophysiology, it is classified into primary and secondary (or reactive). Primary thrombocytosis, which can be of a clonal or a non-clonal nature, is extremely rare in children but could cause quite serious consequences like thrombotic or, paradoxically, bleeding episodes. Secondary thrombocytosis accompanies various conditions, is much more common and is accidentally diagnosed due to its asymptomatic clinical course. In the majority of cases, thombocytosis in children is secondary-reactive; therefore, a “watch and wait” policy is usually followed; diagnosis of any underlying situation should precede the thorough investigation of primary thrombocytosis.
Key words: primary-secondary (reactive) thrombocytosis, childhood
Αλληλογραφία
Βάϊα Παπαγεωργίου
Μητροπόλεως 109
Τ.Κ.: 54622, Θεσσαλονίκη
Τηλ: 2310263351, 6945370923 e-mail: valiapap@yahoo.com
Correspodence
Vaia Papageorgiou
Mitropoloeos 109
Zip code: 546 22, Thessaloniki Tel: 2310263351, 6945370923 e-mail: valiapap@yahoo.com
Κατάλογος
DNA
Τpo
GM-SCF
παράγοντας
IL-6 =
IL-11 =
W
JAK/STAT = Janus Kinase/Signal Transducer and Activation of Transcription
1.
2.
3. Σπληνεκτομή
4.
5. Αιμορραγία
6. Αυτοάνοσα νοσήματα
7.
8. Φάρμακα
9.
10.
Tpo
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Μαρία Τσιμπίδα, MD, PhD.
Abstract
Maria Tsimpida, MD, PhD. Paediatric Ophthalmologist, Athens
Maria
Tsimpida, MD, PhD.
The assessment of the red reflex is a simple and non-invasive clinical examination that can lead to the early diagnosis and treatment of ophthalmic diseases in childhood. The abnormal retinal reflex in the form of leukocoria can be one of the clinical signs of the aforementioned diseases, the most common of which are presented in this article.
Key words: Leukocoria, red reflex assessment, retinoblastoma, congenital cataract, Coats disease
Αλληλογραφία
Μαρία Τσιμπίδα, MD, PhD.
Σκουφά 41, 10673, Αθήνα e-mail: tsimpidam@yahoo.co.uk
Τηλ: 6945708600
Correspodence
Maria Tsimpida, MD, PhD. 41 Skoufa Str, 106 73, Athens e-mail: tsimpidam@yahoo.co.uk
Tel: 00306945708600
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Περίληψη
Δέσποινα
Abstract
Despoina Maritsi1
Lydia Kossiva1
Second Department of Academic Pediatrics, “P&A Kyriakou” Children’s Hospital, Goudi, Athens, Greece
Helen Dana2
2. Department of Pediatric Hematology-Oncology, “P&A Kyriakou” Children’s Hospital, Goudi, Athens, Greece
Despoina Maritsi1, Helen Dana2, Lydia Kossiva1
Sarcoidosis is a multisytemic granulomatous disease of unknown aetiology, which is rarely seen in toddlers and children. Clinical presentation is variable depending on the age of the patient and the organ affected. Two completely different subtypes have been described. Older children are mainly affected by the so-called classic form of sarcoidosis, manifesting with multi-organ involvement and interstitial lung disease associated with hilar lymphadenopathy. Early onset sarcoidosis on the other hand has been described mainly in children aged four years or less and it manifests with the triad of uveitis, arthritis and rash, in the absence of systemic features. Diagnosis is made based on the clinical findings, confirmed by the findings of the tissue biopsy. Treatment incorporates the use of non steroidal anti-inflammatory medications, followed by the use of corticosteroids and immunosuppressive agents. There are limited data regarding the long term outcome in childhood sarcoidosis, however it is well established that early onset of the disease is associated with poorer prognosis.
Key words: Sarcoidosis, Early onset sarcoidosis, Blau syndrome
Αλληλογραφία
Δέσποινα Μαρίτση
Θηβών και Λειβαδίας, Γουδή,
Αθήνα, 11527.
Τηλ.: 2132009000
e-mail: dmaritsi@med.uoa.gr dmaritsi@yahoo.co.uk
Correspodence
Dr. Despoina Maritsi, Thivon & Livadias, Goudi, 115 27, Greece. e-mail: dmaritsi@med.uoa.gr
Σύνδρομο Blau
Early onset sarcoidosis (EOS)
TNF-a = Tumor Necrosis Factor a
HRCT = High Resolution Computer Tomography
MHC = Major Histocompatibility Complex
PGA = Polygranulomatous arthritis
Επιδημιολογία:
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4. Rose CD, Martin TM, Wouters CH. Blau syndrome revisited. Curr Opin Rheumatol. 2011;23:411-418.
5. Sfriso P, Caso F, Tognon S, Galozzi P, Gava A, Punzi L. Blau syndrome, clinical and genetic aspects. Autoimmun Rev. 2012 Nov;12:44-51.
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9. North, AF, Fink, CW, Gibson, WM, et al. Sarcoid arthritis in children. Am. J. Med. 1970, 48, 449-455.
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Abstract
Meropi Tzoufi1
Iliada Nakou1
Stefania Makariou1
Antigone Siamopoulou - Mavridou1
Pediαtric Department
Margarita Papassava2
Vasilios Giapros2
Neonatal Intensive Care Unit (NICU)
Helen Bairaktari3
Biochemical Laboratory, Univer-
sity General Hospital of Ioannina
Meropi Tzoufi1, Margarita Papassava2, Iliada Nakou1, Stefania Makariou1, Vasilios Giapros2, Helen Bairaktari3, Antigone Siamopoulou - Mavridou1
Introduction: Valproic acid (VPA) is the most common and widely used antiepileptical drug in children, usually well tolerated. There are conflicting reports in the literature about its influence on thyroid function. The aim of the study was to evaluate the influence of VPA administration on thyroid function of children with epilepsy. Patients and Methods: In 224 children who receive VPA as monotherapy (Group Α) and 84 children who receive VPA as part of polytherapy (Group Β), we reviewed levels of serum thyroid stimulating hormone (TSH), thyroid hormones and antithyroidal antibodies, before and during the duration of therapy. VPA serum levels were within therapeutic range (50-100 ng/ml).
Results: Thyroid function and TSH levels were within normal limits before starting therapy (2 patients had high levels of TSH, one of them already receiving substitu-
Αλληλογραφία
Μερόπη Τζούφη
Iωάννινα, 45 110, Ελλάδα
Tel: 2651007302, 2651007546
Fax: 2651007038
e-mail: mtzoufi@cc.uoi.gr
Correspodence
Meropi Tzoufi
Ioannina, 45 110, Greece
Tel:+302651007302, +302651007546
Fax: +302651007038
e-mail: mtzoufi@cc.uoi.gr
tion therapy). In 59 patients (39 of Group A, and 20 of Group B), with duration of therapy from 1 to 8 years, an increase of TSH levels was found (>5 μΙU/ml). Most patients presented with spontaneous return of TSH values within normal limits after 1-3 months, while substitutional therapy with thyroxine was administered to 16 patients (the symptomatic ones and those with TSH>10 μIU/ml - 9 from Group A and 7 from Group B).
Conclusion: VPA seems to induce transitory, usually subclinical hypothyroidism, in several patients. Thyroidal function should be followed up closely in these patients before and during therapy, although substitutional therapy indications are still vague.
Key words: thyroid function, valproic acid, hypothyroidism, childhood epilepsy
Lane Handbook, 17th
(17,4%)
(3,5%)
(5%)
(2,5%)
(23,8%)
(4,7%)
(0%)
(0%)
1) TSH
2) TSH 0-1 έτος
3) TSH > 1 έτος
(μIU/ml) ±SD 2,55±0,82 4,88±1,79
vs C: p=0,0001 3,98±2,43
vs C: p=0,0002 2,66±0,98 5,3±2,2 B vs C, p<0,0001 4,47±2,56
vs C, p<0,0001
(1) A vs B: p=0,375, A vs C: p=0,824, B vs C, p= 0,607, (2)A vs B: p=0,0017, A vs C: p=0,0001, B vs C, p<0,0001, (3) A vs B: p=0,685, A vs C: p=0,0002, B vs C, p<0,0001
1) fT4 προ αγωγής (ng/dl) ± SD
2) fT4 0-1 έτος αγωγής (ng/dl) ± SD
3) fT4 >1 έτος αγωγής (ng/dl) ± SD 1,08±0,19
1,05±0,22 A vs C: p<0,0001
0,97±0,23
A vs C: p<0,0001
1,31±0,88
0,97±0,23 B vs C, p<0,0001
0,97±0,48 B vs C, p<0,0001
(1)A vs B: p=0,0377, A vs C: p=0,0019, B vs C, p= 0,7200, (2) A vs B: p=0,1304, A vs C: p<0,0001, B vs C, p<0,0001, (3) A vs B: p=0,9592, A vs C: p<0,0001, B vs C, p<0,0001
1) ΤΤ3 προ αγωγής (ng/dl) ± SD
2) ΤΤ3 0-1 έτος αγωγής (ng/dl) ± SD
3) ΤΤ3 >1 έτος αγωγής (ng/dl) ± SD
1,12±0,25
1,53±1,49 A vs C: p=0,63
1,34±0,35 A vs C: p=0,9
1,18±0,31
1,28±0,34 B vs C: p=0,51
1,38±0,33 B vs C: p=0,11
1,44±0,32
1,44±0,32
1,44±0,32
(1)A vs B: p=0,37, A vs C: p<0,0001, B vs C:p=0,0005 , (2)A vs B: p=0,27, A vs C: p=0,63, B vs C:p=0,51, (3) A vs B: p=0,68, A vs C: p=0,9, B vs C: p=0,11
1. Tanaka K, Yaokoyama S, Κomatsy Μ, Konishi H, Momota K, Matsuo T. Thyroid function in children with long-term anticonvulsant treatment. Pediatr Neurosci 1987; 13 (2): 90-94.
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3. Rao P, Madhav Natu S, Mati Goel M, Ali B. Valproate-induced subclinical hypothyroidism. J Neuropsychiatry Clin Neurosci. 2008; 20(1):111-112.
4. Eirís - Puñal J, Del Río - Garma M, Del Río - Garma MC, Lojo - Rocamonde S, NovoRodríguez I, Castro - Gago M. Long-term treatment of children with epilepsy with valproate or carbamazepine may cause subclinical hypothyroidism. Epilepsia. 1999; 40(12):1761-1766.
5. Verrotti A, Basciani F, Morresi S, Morgese G, Chiarelli F. Thyroid hormones in epileptic children receiving carbamazepine and valproic acid. Pediatr Neurol. 2001; 25(1):43-46.
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8. Cansu A, Serdaroğlu A, Camurdan O, Hirfanoğlu T, Bideci A, Gücüyener K. The evaluation of thyroid functions, thyroid antibodies, and thyroid volumes in children with epilepsy during short-term administration of oxcarbazepine and valproate. Epilepsia 2006;47(11):1855-1859.
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Crown Plaza, Αθήνα, 1213 Δεκεμβρίου 2009, ΑΑ 05: σελ30.
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Abstract
Papadopoulou Magdalini, MSC Pediatrician - Neonatologist, Registrar NICU, General Hospital of Nikaia “Agios Panteleimon”, Piraeus
Papadopoulou Magdalini, MSC
The use of barcodes in health can bring many benefits to the health care systems and their users. A new technological application from the field of trade is to penetrate with great success in the health sector with the ultimate aims to improve procedures in hospitals to ensure better quality and speed in health services to reduce the workload of health professionals to reduce medical errors, to ensure patient health, to reduce the pharmaceutical costs and wasteful economic costs of hospital units.
Keywords: Bar codes, Health, Medical Errors, Hospital Units, Medicines
Αλληλογραφία
Μαγδαληνή Παπαδοπούλου Ριζούντος 90, Τ.Κ. 167 77, Ελληνικό, Αθήνα
τηλ.: 6974753589
e-mail: magpapadopoulou@ yahoo.gr
Correspodence
Magdalini Papadopoulou
Rizoudos 90, 167 77, Elliniko, Athens
Tel: 6974753589
E-mail: magpapadopoulou@ yahoo.gr
Τεχνολογία Barcode
cation and Data Capture - AIDC) (2)
EAN 13 (European Article Numbering), EAN 8, EAN 128, UPC (Universal Product Code), ITF, ISBN (International Standard Book Numbering), ISSN (International Standard Serial Numbering), PDF 417, CODE 39 (6).
(US Food and Drug Administration - FDA),
eration of American Hospitals - FAH),
(Fed
(National Coordinating Council for Medication Error Reporting - NCCMERP)
(American Society of Health - System Pharmacists - ASHP).
Joint Commission On Accreditation of Healthcare Organizations - JCAHO)
2.
3.
4. αυτοματοποίηση
1. Нealth Industry Business Communications Council. Implementation Guide for the Use of Bar Code Technology in Healthcare; 2003: http://www.mckesson. com/static_files/McKesson.com/CorpBrand/Medication%20Safety/Implementation_guide.pdf
2.
3. Ellram L, LaLonde B, Weber MM. Retail Logistics. International Journal of Physical Distribution and Logistics Management 1999; 29: 477-494.
4. Παπαβασιλείου Ν, Μπάλτας Γ. Διοίκηση Δικτύων Διανομής & Logistics, Αθήνα: Εκδόσεις Rosili. 2003, σελ. 159.
5. Αρβανιτογιάννης ΙΣ, Τζούρος Ν. Το νέο πρότυπο ποιότητας & ασφάλειας τροφίμων ISO 22000. Παρουσίαση & Ερμηνεία, Αθήνα: Εκδόσεις Σταμούλης, 2006, σελ. 143.
6. Μπερέτας Ι. Αυτοματισμός με
PLC, Αθήνα:
7. Bucklin R, Gupta S. Commercial Use of UPC Scanner Data: Indurty and Academic Perspectives. Marketing Science 1999; 18: 247-273.
8. Seideman Τ. Bar Codes Sweep the World. American Heritage of Invention and Technology, 1993; 8: 1-5.
9. Byrd-Bredbenner C, Bredbenner C. Assessing the home food environment nutrient supply using mobile barcode (Universal Product Code) scanning technology. Nutrition & Food Science 2010; 40: 305-313.
10. U.S. FDA. FDA to require bar coding of most pharmaceuticals by mid-2006. Am J Health Syst Pharm 2004; 61:644–645.
11. American Society of Health-System Pharmacists. ASHP Patient Concerns National Survey Research Report, 1999: http://www.ashp.org/pr/survey.cfm?cfid=21 604385&CFToken=49077124
12. American Society of Health-System Pharmacists. ASHP Patient Concerns National Survey Research Report, 1999: http://www.ashp.org/pr/survey.cfm?cfid=216 04385&CFToken=49077124.
13. Healthcare Information and Management Systems Society, Vantage Point, 2004; 1: http://www.himss.org/vantagepoint.
14. World Health Organization. Promoting safety of medicines for children, 2007: http://www.who.int/medicines/publications/essentialmedicines/Promotion_safe_ med_childrens.pdf.
15. Holden RJ, Brown RL, Alper SJ, Scanlon MC, Patel NR, Karsh BT. That’s nice, but what does IT do? Evaluating the impact of Barcoded medication administration by measuring changes in the process of care. Int J Ind Ergon 2011; 4:370-379.
16. Holden RJ, Brown RL, Scanlon MC, Karsh BT. Pharmacy workers’ perceptions and acceptance of bar-coded medication technology in a pediatric hospital. Res Social Adm Pharm. 2012; 8:509-22.
17. Healthcare Information and Management Systems Society, RFID and Prescription Medication Dispensing, Vantage Point, 2004: http://www.himss.org/content/ files/vantagepoint/pdf/vantagepoint_1203.pdf.
18. Chua RV, Cordell WH, Ernsting KL, Bock HC, Nyhuis AW. Accuracy of Barcodes versus handwriting for recording trauma resuscitation events. Ann Emerg Med. 1993; 22:1545-50.
19. Sansgiry S, Dwibedi N, Frost C, Dasgupta A, Doan T, Johnson M, Tipton J, Jacob S, Schanafelt C, Snippy A, PHP84 outcomes of bedside-barcode technology intervention on medication administration time in an intensive care unit. Value in Health, 2010; 13: A97.
20. Johansson P., Petersson G., Nilsson G., Personal digital assistant with a barcode reader - A medical decision support system for nurses in home care. International Journal of Medical Informatics. 2010; 79: 232-242.
21. Tsai SL, Sun YC, Taur FM, Comparing the working time between Bar-Code Medication Administration system and traditional medication administration system: An observational study, International Journal of Medical Informatics. 2010; 79: 681689.
22. Patterson ES, Cook RI, Render ML. Improving patient safety by identifying side effects from introducing bar coding in medication administration. J Am Med Inform Assoc. 2002; 9: 540-553.
23. U.S. FDA. Federal Register: Bar Code Label Requirement for Human Drug Products and Blood. 2003: www.fda.gov/OHRMS/DOCKETS/98fr/03-5205.pdf.
24. Wideman MV, Whittler ME, Anderson, TM. Barcode Medication Administration: Lessons Learned from an Intensive Care Unit Implementation. Advances in Patient Safety, 2005; 3: 437-451.
25. Joint Commission on Accreditation of Health Care Organizations: National Patient Safety Goals. 2003: http://www.jcaho.org/accredited+organizations/ patient+safety/npsg/npsg_03.htm.
26. Joint Commission on Accreditation of Healthcare Organizations. Joint Commission Announces Patient Safety Goals. 2002: http://www.jcaho.org/news+room/ news+release+archives/npsg.htm.
27. ΓΎ/149/12 (ΦΕΚ 545/ΕΓ/1-3-2012) Υπουργική
545, 1
2012.
28. Κωλέτης Θ.
2009; 357: 12-13.
29. Νοσοκομείο
2013: http://www.aglaiakyriakou.gr/hospital_e.html.
Abstract
Michailidou Elisavet
Antoniou Antonia
Jοhn Th. Kavaliotis
Paediatric Department, Infectious Diseases Hospital, Thessaloniki, Greece
Michailidou Elisavet, Antoniou Antonia, Jοhn Th. Kavaliotis
We describe a case of aseptic meningitis secondary to West Nile virus (WNV) infection in a 12 year-old girl, the first one to be reported in Greece. The patient presented with febrile exanthematous disease, accompanied by malaise and neck pain. Diagnosis was made while investigating for the cause of the aseptic meningitis. Treatment was supportive and the patient recovered uneventfully.
Keywords: West Nile virus, aseptic meningitis, child, Greece
Αλληλογραφία
546
Τηλ.: 2313308745
e-mail: elisam@otenet.gr
Correspodence
Ε. Μichailidou
Paediatric Department
Infectious Diseases Hospital
13 Gr. Lampraki St. 546 38 Thessaloniki
tel.: 00302313308745
e-mail: elisam@otenet.gr
10.040 mm3 (Πολυμορφοπύρηνα 55%), Ηb 14,7 g/dl, Αιμοπετάλια 181000 mm3, TKE 24 mm, CRP 0,42mg/dl, SGOT 31U/lt, SGPT 25U/lt, Na 140 mEq/L, K 5 mEq/L, Γεν. Ούρων: κφ.
76 mm3,
57 mg/dl,
67 mg/dl.
Herpes Simplex, Varicella-Zoster, Echo, Coxsackie
1. J. R. Romero. B. West Nile Virus, Feigin and Cherry;s Textbook of Pediatric Infectious Diseases: Expert Consult, 2009 SAUNDERS, Elsevier, p.2331-2342.
2. West Nile Virus, American Academy of Pediatrics, Red Book : 2012 Report of the Committee on Infectious Diseases Pickering LK, ed. 29th ed. Elk Grove Village, IL: American Academy of Pediatrics; 2012 p.792-795.
3. Antoniadis A, Alexiou-Daniel S, Malisiovas N, Doutsos I, Polyzoni T, Leduc JW, et al. Seroepidemiological survey for antibodies to arboviruses in Greece Arch Virol. 1990;Suppl1:277-85.
4.
ΚΕΕΛΠΝΟ, www.keelpno.gr.
5. K. Danis, A. Papa, G. Theocharopoulos, G. Dougas, M. Athanasiou, M. Detsis, A. Baka, Th. Lytras, K. Mellou, St. Bonovas, and T. Panagiotopoulos, Outbreak of West Nile Virus Infection in Greece, 2010, Emerging Infectious Diseases• www.cdc.gov/ eid • Vol. 17, No. 10, October 2011, 1868-1872.
6. A Papa, K Danis, A Baka, A Bakas, G Dougas, T Lytras, G Theocharopoulos, D Chrysagis, E Vassiliadou, F Kamaria, A Liona, K Mellou, G Saroglou, T Panagiotopoulos, Ongoing outbreak of West Nile virus infections in humans in Greece, July – August 2010 Euro Surveill. 2010;15(34):pii=19644. Available online: http://www. eurosurveillance.org/ViewArticle.aspx?ArticleId=19644.
7. West Nile virus infection outbreak in humans in Romania October 2010 Joint ecdc/who regional office for europe mission report, www.ecdc.europa.eu.
8. M. N. Kantzanou, Z. M. Moschidis, G. Kremastinou, S. Levidiotou, A. Karafoulidou C. Politis, O. Marantidou, L. Kavallierou, A. Kaperoni, C. Veneti & A. Hatzakis Searching for West Nile virus (WNV) in Greece Transfusion Medicine, 2010, 20, 113-117.
9. West Nile Virus, www.cdc.gov /ncidod/dvbid/westnile/clinicians.
10.
(West Nile Virus)
Vargiami Efthimia1 , Zafeiriou I. Dimitrios1, Batzios Spiridon1, A. Anastasiou2, Badouraki Maria2, E. Dimitriou3, Michelakaki Eleni 3
Mannosidosis-a is a deficiency of a-mannosidase inherited by an autosomal recessive trait1. The first case was published by Ockerman in 19672. Since then over 130 cases have been reported. Mannosidosis-a is characterized by storage of mannose-rich oligosaccharides in numerous organs throughout the body1. The clinical expression varies considerably. We describe a patient with mannosidosis-a and review the literature.
Αλληλογραφία
Τηλ.: 2310892470
Fax: 2310892439
e-mail: keva@med.auth.gr
Correspodence
Efthymia Vargiami
Dorilaiou 3, Kalamaria, Thessaloniki, Greece
55133
Tel: 2310892470
Fax: 2310892439
e-mail: keva@med.auth.gr
Vargiami Efthimia1
Zafeiriou I. Dimitrios1
Batzios Spiridon1
1st Pediatric Clinic, Aristotle University of Thessaloniki
A. Anastasiou2
Badouraki Maria2 Department of Radiology, Ippokratio Hospital of Thessaloniki
E. Dimitriou3
Michelakaki Eleni 3 Institute of Child Health, Athens, Greece
1. Bennet JK, Dembure PP, Elsas LJ. Clinical and biochemical analysis of two families with type I and type II mannosidosis. Am J Med Genet 1995; 55:21–26.
2. Ockerman PA. A generalized storage disorder resembling Hurlers syndrome. Lancet 1967; II: 239–241.
3. Dag Malm, Øivind Nilssen. Alpha-mannosidosis. Orphanet Journal of Rare Diseases 2008; 3:21-31.
4. Ockerman PA. Mannosidosis: isolation of oligosaccharide storage material from brain. J Pediatr 1969; 75:360-365.
5. HUE-MAN. Towards the Development of an Effective Enzyme Replacement Therapy for Human á-Mannosidosis. 2006 [http://www.uni-kiel.de/Biochemie/hueman/].
6. Berg T, Riise HM, Hansen GM, Malm D, Tranebjaerg L, Tollersrud OK et al. Spectrum of mutations in alpha-mannosidosis. Am J Hum Genet 1999; 64:77-88.
7. Malm D, Nilssen O. Alpha-Mannosidosis. GeneReviews. Medical Genetics Information Resource [Database online] 2006 [http:// www.geneclinics.org/].
8. Malm D, Tollersrud OK, Tranebjaerg L, Mansson JE. Alpha-mannosidosis. Tidsskr Nor Laegeforen 1995; 115:594-597.
9. Meikle PJ, Ranieri E, Simonsen H, Rozaklis T, Ramsay SL, Whitfield PD et al. Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy. Pediatrics 2004; 114:909-916.
10. Halperin JJ, Landis DM, Weinstein LA, Lott IT, Kolodny EH. Communicating hydrocephalus and lysosomal inclusions in mannosidosis. Arch Neurol 1984, 41:777779.
11. DeFriend DE, Brown AE, Hutton CW, Hughes PM. Mannosidosis: an unusual cause of a deforming arthropathy. Skeletal Radiol 2000: 29:358-361.
12. Gerards AH, Winia WP, Westerga J, Dijkmans BA, van Soesbergen RM. Destructive joint disease in alpha-mannosidosis. A case report and review of the literature. Clin Rheumatol 2004: 23:40-42.
13. Ahmmed AU, O’Halloran SM, Roland NJ, Starkey M, Wraith JE. Hearing loss due to mannosidosis and otitis media with effusion. A case report and review of audiological assessments in children with otitis media with effusion. J Laryngol Otol 2003; 117:307-309.
14. Ara JR, Mayayo E, Marzo ME, Guelbenzu S, Chabás A, Pina MA et al. Neurological impairment in alpha-mannosidosis: a longitudinal clinical and MRI study of a brother and sister. Childs Nerv Syst 1999; 15:369-371.
15. Dietemann JL, Filippi de la Palavesa MM, Tranchant C, Kastler B. MR findings in mannosidosis. Neuroradiology 1990;32:485-487.
16. Malm D, Pantel J, Linaker OM. Psychiatric symptoms in alphamannosidosis. J Intellect Disabil Res 2005; 49:865-871.
17. Sedel F, Baumann N, Turpin JC, Lyon-Caen O, Saudubray JM, Cohen D. Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults. J Inherit Metab Dis 2007;631-641.
18. Malm D, Halvorsen DS, Tranebjaerg L, Sjursen H. Immunodeficiency in alphamannosidosis: a matched case-control study on immunoglobulins, complement factors, receptor density, phagocytosis and intracellular killing in leucocytes. Eur J Pediatr 2000; 159:699-703.
19. Michalski JC, Klein A. Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-Nacetylgalactosaminidase deficiency. Biochim Biophys Acta 1999; 1455:69-84.
20. Zanetta JP, Bonaly R, Maschke S, Strecker G, Michalski JC. Differential binding of lectins IL-2 and CSL to candida albicans and cancer cells. Glycobiology 1998; 8:221-225.
21. Green RS, Stone EL, Tenno M, Lehtonen E, Farquhar MG, Marth JD. Mammalian N-glycan branching protects against innate immune self-recognition and inflammation in autoimmune disease pathogenesis. Immunity 2007; 27:308-320.
22. Malm D, Klenow H, Nilssen O, Kuroda Y. Sisters with alpha-mannosidosis and systemic lupus erythematosus. Eur J Pediatr 2004; 163:192-195.
23. Segoloni GP, Colla L, Messina M, Stratta P. Renal transplantation in a case of mannosidosis. Transplantation 1996;61:1654-1655.
24. Malm D, Nilssen. Αlpha-Mannosidosis. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. Gene Review. Seattle (WA): University of Washington, Seattle; 1993-2001 Oct 11 [updated 2012 May 03].
25. Antuzzi D, Parini R, Spaccini L, Bembi B, Beccari T. Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis. Hum Mutat 2005;25:320.
26. Pittis MG, Montalvo AL, Heikinheimo P, Sbaragli M, Balducci C, Persichetti E et al. Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosis. Clin Chim Acta 2007;375:136-139.
27. KA, Davies SM, Wenger DA, Rimell FL, Abel S, Grovas AC, Orchard PJ et al. Effective treatment of alpha-mannosidosis by allogeneic hematopoietic stem cell transplantation. J Pediatr 2004; 144:569-573.
28. Wall DA, Grange DK, Goulding P, Daines M, Luisiri A, Kotagal S. Bone marrow transplantation for the treatment of alphamannosidosis. J Pediatr 1998; 133:282285
29. Crawley AC, King B, Berg T, Meikle PJ, Hopwood JJ. Enzyme replacement therapy in alpha-mannosidosis guinea-pigs. Mol Genet Metab 2006; 89:48-57.
Άννα
Jean-Stephane Valla Παιδοχειρουργικό
Abstract
Anna Poupalou
Jean-Stephane Valla
Department of Pediatric Surgery, Lenval Hospital, Nice, France
Huge breast mass in a 13-years-old girl: phyllodes tumour or giant fibroadenoma?
Anna Poupalou, Jean-Stephane Valla
Introduction: Giant fibroadenoma (GF) is a rare benign breast tumour that is found mainly in adolescents and that must be distinguished from the Phyllodes Tumour (PTs), which can be malignant.
Material and methods: To increase awareness of the disorder, we present one case of pubertal female with Phyllodes Tumour (PTs). Clinical history, radiological investigations, operative procedure, pathology, and follow-up notes are reported.
Conclusions: Ultrasonography and magnetic resonance imaging can aid in diagnosis but histological examination is frequently necessary to define the pathology and exclude malignancy. Resection of GF and PTs is essential as they enlarge to the point of causing psychosocial discomfort and mass effects. A prompt surgical excision is required with regard to the best possible cosmetic outcome.
Key words: Breast, adolescent, phyllodes tumour, giant fibroadenoma
Αλληλογραφία Άννα Πουπάλου 149 rue de Sèvres, 15eme arrondissement, Paris. Chirurgie viscerale (prof. Revillon), 4eme etage.
Τηλ: 0-688275411 (Γαλλία, κωδικός 0033), 6944500865 (Έλλαδα) e-mail: apoupalou@gmail.com
Διεύθυνση Ελλάδας: Μυκόνου 3-5, 157 72, Ζωγράφου, Αθήνα
Correspodence
1. Park C.A., David L.R., Argenta L.C. Breast Asymmetry: Presentation of a Giant Fibroadenoma Breast J 2006 12(5):451-61
2. De Silva N. K., Brandt M. L. Disorders of the Breast in Children and Adolescents, Part 2: Breast Masses. J Pediatr Adolesc Gynecol (2006) 19:415e418
3. Moore R. L., Mungaraa A., Shayanb K., Wallacea A. M. Bilaterally symmetric juvenile fibroadenomas and tubular breast deformity in a prepubescent girl J Pediatr Surg 2007. 42:1133-1136
4. Uygur F., Yiğitler C. Rare Juvenile Giant fibroadenoma. The Journal of Breast Health 2009 (3):164-166
5. Amerson JR. Cystosarcoma phyllodes in adolescent females: A report of seven patients. Ann Surg 1970; 171: 849-856
6. Stehr K. G., Lebeau A., Stehr A., Grantzow R. Fibroadenoma of the Breast in an 11-Year-Old Girl. Eur J Pediatr Surg 2004; 14:56-59
Muttarak M., Chaiwun B. Imaging of giant breast masses with pathological correlation. Singapore Med J 2004 Vol 45(3): 132
7. Ο.
8. Kelly R.J., Barrett C., Swan N., McDermott R. Metastatic phyllodes tumor causing small-bowel obstruction. Clin Breast Cancer 2009 9(3): 193-5
9. West K.W., Rescorla F. J., Scherer III L.R., Grosfeld J. L. Diagnosis and Treatment of Symptomatic Breast Masses in the Pediatric Population. J Pediatr Surg 1995 30(2): 182-187
11. Sridhar G.R., Jaya Sinha M. Macromastia in Adolescent girls. Indian Pediatrics 1995. 32: 496-499
12. Tsushima Y., Takahashi- Taketomi A., Endo K. Magnetic resonance (MR) differential diagnosis of breast tumors using apparent diffusion coefficient (ADC) on 1.5-T. J Magn Reson Imaging 2009 30(2):249-55
13. Gobbi D., Dall’Igna P., Alaggio R., Nitti D., Cecchetto G. Giant Fibroadenoma of the breast in adolescents: report of 2 cases. J Pediatr Surg 2009 Feb; 44(2):e39-41
14. Ciftci A.O., Tanyel F.C., Büyükpamukçu N., Hiçsönmez A. Female Breast Masses During Childhood: A 25- Year Review. Eur J Pediatr Surg 1998; 8:67-70
Abstract
Ek. Martinopoulou
V. Papavasiliou
A. Andreou
Neonatal Department of General Hospital “Hippokration”, Thessaloniki
A
Ek. Martinopoulou, V. Papavasiliou, A. Andreou
The case is reported of a male infant born with cobalamin CblC deficiency, in which the newborn screening test for inborn errors of metabolism was negative. The infant presented in the 21st day of life with lethargy, feeding difficulty, hypothermia, apnea and pancytopenia. The biochemical tests and the culture of fibroblasts showed methylmalonic aciduria with combined homocystimenia and cobalamin CblC deficiency. The neutropenia was treated with granulocyte stimulating factor. The initial treatment with vitamin B12 and the addition of betaine later on made the clinical course and biochemical profile better. The neurodevelopment of the infant by the age of 1 was normal.
Key words: methylmalonic aciduria, homocystinemia, cobalamin C deficiency
Αλληλογραφία
Αικατερίνη
Δημητσάνας 41,
Τ.Κ. 544 54, Θεσσαλονίκη e-mail: k.martinopoulou@ yahoo.gr
τηλ: 2310900798, 6947074785
Correspodence
Ekaterini Martinopoulou
Dimitsanas 41 St, 544 54, Thessaloniki
e-mail: k.martinopoulou@ yahoo.gr
τηλ : 2310900798, 6947074785
Κατάλογος Συντομογραφιών
U/S = υπερηχογράφημα
MRI
1. Nelson Textbook of Pediatrics, Kliegman, Behrman, Jenson, Stanton 18th Edition.
2. Morel CF, Watkins D, Scott P, et al. Prenatal diagnosis for MMA and inborn errors of vitB12 metabolism and transport Mol Genet Metab. 2005; 86:160-171.
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