References
Fitch N, Kaback M. The Axenfeld syndrome and the Rieger syndrome. J Med Genet. 1978:15:30–34.
Maclean K, Smith J, Heaps L, Chia N, Williams R, Peters GB, et al. Axenfeld-Rieger malformation and distinctive facial features: clues to a recognizable 6p25 microdeletion syndrome. Am J Med Gent. 2005;132A:381–385.
Kniestedt C, Taralczak M, Thiel MA, Stuermer J, Baumer A, Gloor BP. A novel PITX2 mutation and polymorphism in a 5-generation family with Axenfeld-Reiger anomaly and coexisting Fuch’s endothelial dystrophy. Opthalmology. 2006; 13:1791.E 1–8.
Kaestner KH, Knochel W, Martinez DE. Unified nomenclature for the winged helix/forkhead transcription factors. Genes Dev. 2000:14:142–146.
Law CJ, Fisher AM, Temple IK. Distal 6p deletion syndrome: A report of a case with anterior chamber anomaly and review of published reports. J Med Genet. 1998;35:685–689.
Lehmann OJ, Ebenezer ND, Ekong R, Ocaka L, Mungall AJ, Fraser S, et al. Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions. Invest Ophthal Vis Science. 2000;43:1843–1849.
Moog U, Bleeker-Wagemakers EM, Crobach P, Vles JSH, Schrander-Stumpel CTRM. Sibs with Axenfeld-Rieger anomaly, hydrocephalus and leptomeningeal calcifications: A new autosomal recessive syndrome? Am J Med Genet. 1998;78:263–266.
Brooks JK, Coccaro PJ Jr, Zarbin MA. The Rieger anomaly concomitant with multiple dental, craniofacial, and somatic midline anomalies and short stature. Oral Surg Oral Med Oral Path. 1989;68:717–724.
Zarbalis K, Siegenthaler JA, Choe Y, May SR, Peterson AS, Pleasure SJ. Cortical dysplasia and skull defects in mice with a Foxc1 allele reveal the role of meningeal differentiation in regulating cortical development. Proc Natl Acad Sci USA. 2007;104:14002–14007.
References
Satoyoshi E, Yamada K. Recurrent muscle spasms of central origin. A report of two cases. Arch Neurol. 1967;16:254–264.
Salah Uddina ABM., Waltersabc AS, Alie A, Brannanad TA. Unilateral presentation of ’satoyoshi syndrome’. Parkinsonism Related Disorders. 2002; 8:211–213.
Ashalatha R, Kishore A, Sharada C, Nair MD. Satoyoshi syndrome. Neurol India. 2004;52:94–95.
Drost G, Verrips A, Van Engelen BGM, Stegeman DF, Zwarts MJ. Involuntary painful muscle spasms in Satoyoshi syndrome: a surface electromyographic study. Mov Disord. 2006;11:2015–2018.
Asherson RA, Giampaolo D, Strimling. A case of adultonset Satoyoshi syndrome with gastric ulceration and eosinophilic enteritis. Nature Clin Pract Rheumatol. 2008;4:439–444.
Matsuura E, Matsuyama W, Sameshima T, Arimura K. Satoyoshi syndrome has antibody against brain and gastrointestinal tissue. Muscle Nerve. 2007;36:400–403.
Ikegawa S, Nagano A, Satoyoshi E. Skeletal abnormalities in Satoyoshi’s syndrome: a radiographic study of eight cases. Skeletal Radiol. 1993;22:321–324.
Harati Y, Kolimas RJ. Muscle cramps, stiffness and myalgia. In: Jankovic J, Tolosa E, eds. Parkinson’s Disease and Movement Disorders. USA: Williams and Wilkins. 1998. p. 796–798.
Merello M, Garcia H, Nogues M, Leiguarda R. Masticatory muscle spasms in a non-Japanese patient with Satoyoshi syndrome successfully treated with botulinum toxin. Mov Disord. 1994;9:104–105.
Arita J, Hamano S, Nara T, Maekawa K. Intravenous gammaglobulin therapy in Satoyoshi syndrome. Brain Dev. 1996;18:409–411.
References
Pivnick EK, Angle B, Kaufman RA, Hall BD, Pitukcheewanout P, Hersh JH, et al. Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: report of five new cases and review. Am J Med Genet. 2000;90:131–140.
Arboleda H, Arboleda G. Follow-up study of Wiedemann-Rautenstrauch syndrome: Long-term survival and comparison with Rautenstrauch’s patient “G”. Birth Defects Res. 2005;73:562–568.
Morales LC, Arboleda G, Rodriguez Y, Forero DA, Ramirez N, Yunis JJ, et al. Absense of lamin A/C gene mutations in four Wiedemann-Rautenstrauch syndrome patients. Am J Med Genet. 2009;149A:2695–2699.
Wiedemann HR. An unidentified neonatal progeroid syndrome: follow-up report. Eur J Pediatr. 1979;130:65–70.
Rautenstrauch T, Snigula F. Progeria: a cell culture study and clinical report of familial incidence. Eur J Pediatr. 1977;124:101–111.
Arboleda H, Quintero L, Yunis E. Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients. J Med Genet. 1997;34:433–437.
Singer A, Devriendt K, Dev D, Vinkler C. A patient with neonatal progeroid (Wiedemann-Rautenstrauch) syndrome and complex chrosomal rearrangement (CCR). Available from: www.ashg.org/2009meeting/abstracts/fulltext/f20712.html. Accessed May 1, 2010.
Dinleysi EC, Tekin N, Dinleyici M, Aksit MA. Clinical and laboratory findings of two newborns with Wiedemann-Rautenstrauch syndrome: additional features, evaluation of bone turnover and review of literature. J Pediatr Endocrinol Metab. 2008;21:591–596.
Tunc T, Bulbul A, Erdinc K, Sarici SU, Gul D, Ozcan O. The Wiedemann-Rautenstrauch or neonatal progeroid syndrome: report of a patient with hypospadias. Genet Couns. 2009;20:367–371.
References
Stanley CA. Hyperinsulinism in infants and children. Pediatr Clin North Am. 1997;44:363–374.
Fournet JC, Junien C. The genetics of neonatal hyperinsulinism. Horm Res. 2003;59:30–34.
Meissner T, Mayatepek E. Clinical and genetic heterogeneity in congenital hyperinsulinism. Eur J Pediatr. 2002;161:6–20.
Hussain K, Flanagan SE, Smith VV, Ashworth M, Day M, Pierro A, et al. An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism. Diabetes. 2008;57:259–263.
Kapoor RR, Flanagan SE, James C, Shield J, Ellard S, Hussain K. Hyperinsulinaemic hypoglycemia. Arch Dis Child. 2009;94:450–457.
Hussain K. Diagnosis and management of hyperinsulinaemic hypoglycemia of infancy. Horm Res. 2008;69:2–13.
James C, Kapoor RR, Ismail D, Hussain K. The genetic basis of congenital hyperinsulinism. J Med Genet. 2009;46:289–299.
Nestorowicz A, Glaser B, Wilson BA, Shyng SL, Nichols CG, Stanley C, et al. Genetic heterogeneity in familial hyperinsulinism. Hum Mol Genet. 1998;7:1119–1128.
De Vroede M, Bax NM, Brusgaard K. Laparoscopic diagnosis and cure of hyperinsulinism in two cases of focal adenomatous hyperplasia in infancy. Pediatrics. 2004;114:e520–e522.
Kochar IP, Kulkarni KP. Transient neonatal diabetes due to Kcnj11 mutation. Indian Pediatr. 2010;47:359–360.
References
Land VJ, Sutow WW, Fernbach DJ, Lane DM, Williams TE. Toxicity of L-asparaginase in children with advanced leukemia. Cancer. 1972;30:339–347.
Wang YJ, Chu HY, Shu SG, Chi CS. Hyperglycemia induced by chemotherapeutic agents used in acute lymphoblastic leukemia: report of three cases. Chinese Med J (Taipei). 1993;51:457–461.
Yu-Juei Hsu, Yeu-Chin Che. Diabetic ketoacidosis and persistent hyperglycemia as long term complication of Lasparginase induced pancreatitis. Chinese Med J. 2002;65:441–445.
Cetin M, Yetgin S, Kara A, Tuncer M, Günay M, Gümrük F, et al. Hyperglycemia ketoacidosis and other complications of L-asparaginase in children with acute lymphoblastic leukemia. J Med. 1994;25:219–229.
Gillette PC, Hill LL, Starling KA, Fernbach DJ. Transient diabetes mellitus secondary to L-asparaginase therapy in acute leukemia. J Pediatr. 1972;81:109–111.
Iyer RS, Rao SR, Pai S, Advani SH, Magrath IT. Lasparaginase related hyperglycemia. Indian J Cancer. 1993;30:72–76.
Pui CH, Burghen GA, Bowman WP, Aur RJA. Risk factors for hyperglycemia in children with leukemia receiving Lasparaginase and prednisolone. J Pediatr. 1981;99:46–50.
Rovira A, Cordido F, Vecilla C, Bernacer M, Valverde I, Pombo H. Study of beta-cell function and erythrocyte insulin receptors in a patient with diabetic ketoacidosis associated with asparaginase therapy. Acta Paediatr Scand. 1986;75:670–671.
Dacou-Voutetakis C, Palis J, Haidas S, Zannos-Moriolea L. Abnormal glucose tolerance in children with acute leukemia: effect of induction chemotherapy including asparaginase. Am J Pediatr Hematol Oncol. 1983;5:139–146.
Roberson J, Raju S. Diabetic ketoacidosis during therapy of pediatric acute lymphoblastic leukaemia. Pediatric Blood Cancer. 2008;6:1207–1212.
Author information
Authors and Affiliations
Corresponding authors
Rights and permissions
About this article
Cite this article
Kapoor, S., Banerjee Mukherjee, S., Shroff, D. et al. Case Reports. Indian Pediatr 48, 727–736 (2011). https://doi.org/10.1007/s13312-011-0108-8
Published:
Issue Date:
DOI: https://doi.org/10.1007/s13312-011-0108-8