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The Indian Journal of Pediatrics

, Volume 71, Issue 5, pp 437–440 | Cite as

Sengers disease: A rare association of hypertrophic cardiomyopathy and congenital cataracts

  • M. AtiqEmail author
  • S. Iqbal
  • S. Ibrahim
Clinical Brief

Abstract

Hypertrophic cardiomyopathy is an uncommon childhood cardiac disease and can be primary or secondary. Several systemic diseases are known to be associated with this entity. Senger’s disease is a mitochondrial disorder causing congenital cataracts lactic acidosis and skeletal and cardiac myopathy. Diagnosis should be kept in mind when routine neonatal eye screening reveals absent red reflex. The authors report a case of Sengers disease and discuss the underlying pathogenetic mechanisms.

Key words

Hypertrophic cardiomypopathy Cataracts Sengers disease 

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References

  1. 1.
    Sengers RC, Trijebels JM; Williams JL, Daniels O, Standhauders AM. Congenital contract and mitochondrial myopathy of skeletal and heart muscle associate with lactic acidosis after exercise.J Paediatr 1975; 86: 873–880.CrossRefGoogle Scholar
  2. 2.
    Sengers RC, Standhouders AM, Van Lak Wijk Vondrovicova E, Kubat K, Ruitenbeck W. Hypertrophic cardiomyopathy associated with a mitochondrial myopathy of voluntary muscles and congenital contaract.Brain and Heart J 1985; 54: 543–547.CrossRefGoogle Scholar
  3. 3.
    Van EG, Standhouders AM Smeitink JA, Sengers RC. A retrospective study of patients with hereditary syndrome of congenital contaract, mitochondrial myopathy of heart and skeletal muscles and lactic acidosis.Eur J Paediatr 1993; 152: 255–259.CrossRefGoogle Scholar
  4. 4.
    Valsson J, Laxdal T, Jonsson A, Janssan KK, Helgason H. Congenital cardiomyopathy and contaract with lactic acidosis.Am J of Cardiol 1988; 61: 193–194.CrossRefGoogle Scholar
  5. 5.
    Ibrahim S, Habib Z, Azam IS, Ahmed R. Parental consanguinity: a risk factor for developmental delay in Pakistani children.J Pak Med Assoc 2001; 51(12): 418–421.PubMedGoogle Scholar
  6. 6.
    John MC, Kusick VA. Mendelian inheritance in man 6th edn. Baltimore: John Hopkins University Press, 1983.Google Scholar
  7. 7.
    Cruysberg JR, Sengers RC, Pinckers A, Kubat K, Vsan HU. Features of a syndrome with congenital cataract and hypertrophic cardiomyopathy.Am J Ophthalmol 1986; 102: 740–749.PubMedGoogle Scholar
  8. 8.
    Pitkanen S, Merate F, MC Leod DR, Applegarth D, Tong T, Robinson BH. Familial Cardiomyopathy with cataract and lactic acidosis a defect in complex 1 (Nadh Dehydrogenase) of Mitochondrial respiratory chain.Ped Research 1996; 39: 513–521.CrossRefGoogle Scholar
  9. 9.
    Bindoff LA, Tuenhbell DM. Defects of mitochondrial respiratory chain. In John B Holton, ed.The Inherited Metabolic Diseases 2nd edn. 1994; 265–293.Google Scholar
  10. 10.
    Pitkanen S, Roberson BH. Mitochondrial complex 1 deficiency leads to increased production of superoxide radical and induction of Superoxide dismutase.J Clin Investig 1996; 98: 345–351.PubMedGoogle Scholar
  11. 11.
    Smeitink JA, Sengers RC, Trijbels JM, Ruinebeck W, Daniels O, Standhouders AM, Kock Jansen MJ. Fatal neonatal cardiomyopathy associated with cataract and mitochondrial myopathy.Eur J Paediatr 1989; 148: 656–659.CrossRefGoogle Scholar
  12. 12.
    Pitkanen S, Luo X, Kassovska Bratinova S, Robinson BH, Lehotery DC. Exessive formation of hydrxyl radical and aldehydic lipid peroxidation projects in cultured skin fibroblasts from patients with complex 1 deficiency.J Clin Investig 1997; 99: 2877–2882.PubMedCrossRefGoogle Scholar
  13. 13.
    Jordens EZ, Palmieril, Huizing Met al. Adenine Nucleotide Translocator I deficiency associated with Sengers Syndrome.Ann Neurol 2002; 52: 95–99.PubMedCrossRefGoogle Scholar
  14. 14.
    Luo X, Pitkanen S, Kassovska-Bratinova S, Robinson BH, Lehotay DC. Excessive formation of hydroxyl radicals and aldehydic lipid peroxidation products in cultured skin fibroblasts from patients with complex I deficiency.J Clin Invest 1997; 99: 2877–2882.PubMedGoogle Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2004

Authors and Affiliations

  1. 1.Department of PediatricsThe Aga Khan University HospitalKarachiPakistan

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