Skip to main content

Advertisement

Log in

Case Reports

  • Published:
Indian Pediatrics Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  1. Fitch N, Kaback M. The Axenfeld syndrome and the Rieger syndrome. J Med Genet. 1978:15:30–34.

    Article  PubMed  CAS  Google Scholar 

  2. 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.

    Article  Google Scholar 

  3. 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.

    Google Scholar 

  4. Kaestner KH, Knochel W, Martinez DE. Unified nomenclature for the winged helix/forkhead transcription factors. Genes Dev. 2000:14:142–146.

    PubMed  CAS  Google Scholar 

  5. 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.

    Article  PubMed  CAS  Google Scholar 

  6. 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.

    Google Scholar 

  7. 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.

    Article  PubMed  CAS  Google Scholar 

  8. 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.

    Article  PubMed  CAS  Google Scholar 

  9. 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.

    Article  PubMed  CAS  Google Scholar 

References

  1. Satoyoshi E, Yamada K. Recurrent muscle spasms of central origin. A report of two cases. Arch Neurol. 1967;16:254–264.

    PubMed  CAS  Google Scholar 

  2. Salah Uddina ABM., Waltersabc AS, Alie A, Brannanad TA. Unilateral presentation of ’satoyoshi syndrome’. Parkinsonism Related Disorders. 2002; 8:211–213.

    Article  Google Scholar 

  3. Ashalatha R, Kishore A, Sharada C, Nair MD. Satoyoshi syndrome. Neurol India. 2004;52:94–95.

    PubMed  CAS  Google Scholar 

  4. 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.

    Article  Google Scholar 

  5. 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.

    Article  Google Scholar 

  6. Matsuura E, Matsuyama W, Sameshima T, Arimura K. Satoyoshi syndrome has antibody against brain and gastrointestinal tissue. Muscle Nerve. 2007;36:400–403.

    Article  PubMed  CAS  Google Scholar 

  7. Ikegawa S, Nagano A, Satoyoshi E. Skeletal abnormalities in Satoyoshi’s syndrome: a radiographic study of eight cases. Skeletal Radiol. 1993;22:321–324.

    Article  PubMed  CAS  Google Scholar 

  8. 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.

    Google Scholar 

  9. 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.

    Article  PubMed  CAS  Google Scholar 

  10. Arita J, Hamano S, Nara T, Maekawa K. Intravenous gammaglobulin therapy in Satoyoshi syndrome. Brain Dev. 1996;18:409–411.

    Article  PubMed  CAS  Google Scholar 

References

  1. 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.

    Article  PubMed  CAS  Google Scholar 

  2. 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.

    Article  CAS  Google Scholar 

  3. 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.

    Article  PubMed  CAS  Google Scholar 

  4. Wiedemann HR. An unidentified neonatal progeroid syndrome: follow-up report. Eur J Pediatr. 1979;130:65–70.

    Article  PubMed  CAS  Google Scholar 

  5. Rautenstrauch T, Snigula F. Progeria: a cell culture study and clinical report of familial incidence. Eur J Pediatr. 1977;124:101–111.

    Article  PubMed  CAS  Google Scholar 

  6. Arboleda H, Quintero L, Yunis E. Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients. J Med Genet. 1997;34:433–437.

    Article  PubMed  CAS  Google Scholar 

  7. 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.

  8. 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.

    Google Scholar 

  9. 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.

    PubMed  CAS  Google Scholar 

References

  1. Stanley CA. Hyperinsulinism in infants and children. Pediatr Clin North Am. 1997;44:363–374.

    Article  PubMed  CAS  Google Scholar 

  2. Fournet JC, Junien C. The genetics of neonatal hyperinsulinism. Horm Res. 2003;59:30–34.

    Article  PubMed  CAS  Google Scholar 

  3. Meissner T, Mayatepek E. Clinical and genetic heterogeneity in congenital hyperinsulinism. Eur J Pediatr. 2002;161:6–20.

    PubMed  CAS  Google Scholar 

  4. 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.

    Article  PubMed  CAS  Google Scholar 

  5. Kapoor RR, Flanagan SE, James C, Shield J, Ellard S, Hussain K. Hyperinsulinaemic hypoglycemia. Arch Dis Child. 2009;94:450–457.

    Article  PubMed  CAS  Google Scholar 

  6. Hussain K. Diagnosis and management of hyperinsulinaemic hypoglycemia of infancy. Horm Res. 2008;69:2–13.

    Article  PubMed  CAS  Google Scholar 

  7. James C, Kapoor RR, Ismail D, Hussain K. The genetic basis of congenital hyperinsulinism. J Med Genet. 2009;46:289–299.

    Article  PubMed  CAS  Google Scholar 

  8. 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.

    Article  PubMed  CAS  Google Scholar 

  9. 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.

    Article  PubMed  Google Scholar 

  10. Kochar IP, Kulkarni KP. Transient neonatal diabetes due to Kcnj11 mutation. Indian Pediatr. 2010;47:359–360.

    PubMed  CAS  Google Scholar 

References

  1. Land VJ, Sutow WW, Fernbach DJ, Lane DM, Williams TE. Toxicity of L-asparaginase in children with advanced leukemia. Cancer. 1972;30:339–347.

    Article  PubMed  CAS  Google Scholar 

  2. 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.

    CAS  Google Scholar 

  3. 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.

    Google Scholar 

  4. 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.

    PubMed  CAS  Google Scholar 

  5. 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.

    Article  PubMed  CAS  Google Scholar 

  6. Iyer RS, Rao SR, Pai S, Advani SH, Magrath IT. Lasparaginase related hyperglycemia. Indian J Cancer. 1993;30:72–76.

    PubMed  CAS  Google Scholar 

  7. 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.

    Article  PubMed  CAS  Google Scholar 

  8. 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.

    Article  PubMed  CAS  Google Scholar 

  9. 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.

    PubMed  CAS  Google Scholar 

  10. Roberson J, Raju S. Diabetic ketoacidosis during therapy of pediatric acute lymphoblastic leukaemia. Pediatric Blood Cancer. 2008;6:1207–1212.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding authors

Correspondence to Seema Kapoor, Maya Mukhopadhyay, J. P. Narayan, Seema Thakur or Rakesh Mondal.

Rights and permissions

Reprints 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

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s13312-011-0108-8

Keywords

Navigation