The Indian Journal of Pediatrics-

Online

Vol 71; Number 11, November 2004 The Indian Journal of Pediatrics Electronic pages is the online section of the journal providing clinical reports over the Internet. In every issue, 10-15 new articles will be published in The Indian Journal of Pediatrics electronic pages. Abstracts of these articles will appear in the printed copy of the Journal. However, the complete version of the articles is only available online. Full text of the p r i n t e d e d i t i o n of The I n d i a n Journal of Pediatrics is available online at www.ij ppediatricsindia.org

Current Abstracts e30 Simultaneous Partial Monosomy 5p and Trisomy 10q Mehmet Elbistan Department of Medical Biology and Genetics, Ondokuz, Mayis University, Faculty of Medicine. Samsun, Turkey. Abstract. A three-year-old male with distal partial monosomy 5p and distal partial trisomy 10q occurring from a paternal balanced reciprocal translocation involving chromosomes 5 and 10 is described. The karyotype of the proband was found as 46, XY, der (5), t(5;10)(5qter ~ 5p15.3:10q24.3-->10qter)pat. His father's karyotype was 46, XY, t(5; 10(15qte-)5p15.3::q24.3 ~ 10 qter; 10pter-)10q24.3::5p15.3--)5pter) mat. Although, paternal grandmother was found to be carrier of similar translocation. However, mother and uncle had normal karyotypes. The clinical features of the proband are as follows: severe psyschomotor retardation, hypotonia, flat face, high forehead, small nose, depressed nasal bridge, arched eyebrows, microphtalmia, epichantus, short palpebral fissures, blepharophimosis, hypertelorisim, higharched palate, low-set ears, short neck, laryngomalacia, congenital heart disease (muscular VSD), left coanal atresia and anomalies of hands and feet. The review of the literature seemed to indicate that the case described here with translocation breakpoints and phenotype might be the first case of simultaneous distal partial monosomy 5p and distal partial trisomy 10q. [Indian J Pediatr 2004; 71 (11) : e30-e33] E-mail:[email protected]

e34 Subcutaneous Fat Necrosis Ziihre Kaya, Ebru Ergenekon,Ilknur Erol, AylarPoyraz1, Esin Ko~ and Y~ld~zAtalay Departments of Neonatalogy and +Pathology, Gazi Univercity Faculty of Medicine, Ankara, Turkey. Abstract. Subcutaneous fat necrosis occurs in term newborn with history of difficult delivery. Apart from the soft tissue lesions, the infants may suffer from life threatening hypercalcemia as a complication of disease requiring various medications. A case of subcutaneous fat necrosis with history of birth asphyxia is presented and clinicial course and treatment options are discussed. [Indian J Pediatr 2004; 71 (11) : e34-e36 ]

e37 Renal Tubular Dysgenesis Mukta Mantan, Pankaj Hari, VinayAggarwaP,Amit Dinda1and Arvind Bagga Departments of Pediatrics and IPathology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi and 2Department of Pediatrics, Indraprastha Apollo Hospital, New Delhi, India Abstract. A neonate with acute renal failure due to renal tubular dysgenesis is described. The diagnosis was confirmed on renal histology, characterized by short and poorly developed proximal renal tubules. [Indian J Pedatr 2004; 71 (11) ~.e37-e38] E-mail: [email protected]

e39 Prenatal Cerebral Infarction Secondary to Glanzmann's Thrombasthenia Valerie Said-Conti,Raymond Parascandolo and VictorGrech Pediatric Department St. Lake's Hospital, Guardamangia, Malta Abstract. Glanzmann's thrombasthenia is a rare autosomal recessive bleeding disorder caused by a deficit of glycoprotein lib-Ilia complexes in platelets, resulting in a prolonged bleeding time and impaired clot retraction in the presence of a Indian Journal of Pediatrics, Volume 71--November, 2004

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Electronic pages normal platelet count. We report a newborn female who presented with a large intrauterine cerebral infarction, a presentation not previously described. Our patient also had leukocyte-adhesion deficiency syndrome, an association only described once before. [Indian J Pediatr 2004; 71 (11) : e39-e40] E-mail : victor.e.grech @govt.mt

e41 Necrotizing Fasciitis Uday Kumar Chalwadi, Niranjan Biswal, Betsy Mathai, Basavaraj M. Kerur and S. Srinivasan

Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research

Abstract. Necrotizing fasciitis (NF) is a life threatening soft tissue infection usually associated with the trauma and immunodeficiency. We report a case of necrotizing fasciitis spreading from the chest wall in a healthy infant with a history of betamethasone intake for a month. Coagulase negative Staphylococcus aureus (CONS) was isolated from the blood culture. Child succumbed to necrotizing fasciitis due to multi-organ dysfunction and spreading gangrene. Early debridement and appropriate antibiotic therapy in an intensive care setup may improve the outcome. Oral betamethasone drops sold over the counter without prescription in India may be make the children vulnerable to serious infections. [Indian J Pediatr 2004; 71 (11) : e41-e42] E-mail: [email protected]

e43 Congenital Scaphoid Megalourethera: A Surgical Experience with Augmented Nesbitt's Urethroplasty D.D. Sinha, Chetan Sharma, Vipul Gupta, V. Chaturvedi and Manoj Joshi Department of Neonatal and Pediatric Surgery, SMS Medical College, S.P. Mother & Child Health Institute, Jaipur, India. Abstract. Congenital scaphoid megalourethera is described in two infants presented with abnormal large, flabby phallus and postvoiding dribbling of urine. MCU showed crescentric dilatation of penile urethra without any proximal or distal obstruction. A thorough evaluation suggested absence of any associated anomalies. Nesbitt's urethroplasty reinforced with dartos pedicle flap resulted in a satisfactory recovery. Authors review their experience with this modified surgical repair and the pertinent literature. [Indian J Pediatr 2004; 71 (11) : e43-e45] E-mail : [email protected]

e46 Pararectal Duplication Shyam B. Sharma and Vipul Gupta Department of Neonatal and Pediatric Surgery, SMS Medical College, S.P. Mother and Child Health Institute, Jaipur, India Abstract. An unusual case of pararectal duplication is described in a 2 months old female infant presented with abdominal lump and constipation. The unusual clinical presentation and the management protocol of this rare entity are discussed. Authors review their experience with the present case and the pertinent literature. [Indian J Pediatr 2004; 71 (11) 9e46-e47] E-mail : [email protected]

e48 Interchange Trisomy 22 in a Live Born Resulting from 3:1 Segregation in a t(15;22) (p12;q13) Carrier Mother Z.M. Patel and Prochi Madon 1 Genetic Research Centre, National Institute for Research in Reproductive Health J.M. Street, Parel, Mumbai, ~Department of Assisted Reproduction and Genetics, Jaslok Hospital & Research Centre, Mumbai, India. Abstract. Non-mosaic Trisomy 22 is the second most common autosoma~ trisomy found in spontaneous abortions but relatively uncommon in live births. We report a case of non mosaic trisomy 22 surviving till late infancy. The unique phenotype was microcephaly, large eyes with anti mongoloid slants, mild hypertelorism, broad depressed nasal bridge, large prominent bulbou~ nasal tip anteverted nostrils, long philtrum, small mouth with down turned corners, microretrognathia cleft palate and preauricular tags. Systemic examination showed a ventricular septal defect. The probands karyotype was 47, XX, der(15)t (15;22) (p12;q13),+der(22)mat. This karyotype is as the result of 3:1 interchange segregation in the mother who is a carrier of a balanced translocation. The proband had inherited two derivative chromosomes and extra chromosome from the mother besides one 22 from the father. This is known as interchange trisomy. We report the first such case from India discussing the possible reason for the late survivor of this usually lethal anomaly. [Indian J Pediatr 2004; 71 (11) : e48-e50] E-mail: [email protected]

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Indian Journal of Pediatrics, Volume 71--November, 2004

Electronic pages

e51 latrogenic Bronchopleural Fistula Life-Saving in a Case of Bilateral Congenital Lobar Emphysema Sudin. V. Daniel

SJL T. Hospital, S.A.T Hospital for Women and Children, Medical College, Trivandrum, Kerala, India. Abstract. This is the case of a 45 days old, male infant brought to the Pediatric Surgery Department, with complaints of recurrent respiratory infections and breathing difficulty since early neonatal period. There were no feeding problems like, choking at feeds. Chest X-ray showed hyper lucent zones corresponding to the left upper lobe and right middle lobes of the lungs. A C.T scan confirmed the diagnosis of Bilateral Congenital Lobar Emphysema. A staged resection was planned. Resection of the emphysematous right middle lobe was done first, but the infant developed severe respiratory distress in the postoperative period, with marked central cyanosis, hyper resonance, and absent air entry on the left side. Suspecting a tension pneumothorax on the left side an emergency tube thoracostomy was done. The condition of the child did not allow a chest X-ray prior to the procedure. This resulted in a bronchopleural fistula on the left side but the child improved dramatically. The child got stabilized and resection of the emphysematous lobe on the left side also was performed. The postoperative period was uneventful and the infant was discharged in good general condition. [Indian J Pediatr 2004; 71 (11) : e51-e53] E-mail: [email protected] e54 Crigler-Najjar Syndrome Type II Ravi Gupta and Yogesh Parashar Department of Pediatrics, Holy Family Hospital, New Delhi, India. Abstract. Crigler- Najjar syndrome Type II is a rare cause of persistent unconjugated jaundice. It is clinically difficult to

distinguish from Gilbert's syndrome. Here the authors present a case in whom they tried to distinguish between the two by two simple tests. [Indian J Pediatr 2004; 7'1 (11): e54-e55] E-mail : [email protected]

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