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The Indian Journal of Pediatrics

, Volume 85, Issue 10, pp 924–926 | Cite as

Immunodeficiency in a Child with Alström Syndrome

  • Taha Resid Ozdemir
  • Neslihan Edeer Karaca
  • Jan Davis Marshall
  • Necil Kutukculer
  • Guzide Aksu
  • Riza Koksal Ozgul
  • Aysegul Ozanturk
  • Esra Isik
  • Bilcag Akgun
  • Hamiyet Hekimci Ozdemir
  • Sukran Darcan
  • Ferda Ozkinay
  • Ozgur Cogulu
Scientific Letter
  • 65 Downloads

To the Editor: Alström Syndrome (ALMS) is a very rare autosomal recessive genetic disorder characterized by childhood obesity, hearing loss, retinopathy, cardiomyopathy, recurrent pulmonary infections, diabetes, and progressive renal, hepatic and endocrinological dysfunction. It is caused by mutations in the ALMS1 gene [1]. Here we present a case diagnosed as ALMS with additional findings including immunodeficiency.

A 4.5-y-old girl was born to nonconsanguineous parents at 32nd wk of gestation with birth weight 2180 g. She had hypothyroidism during neonatal period and required multiple hospitalizations due to recurrent pulmonary infections.

A physical examination was conducted and documented. The weight, height and head circumference were 5 kg (<3 percentile), 58 cm (<3 percentile) and 42 cm (<2 percentile) respectively, besides delayed developmental milestones.

She was noted to have generalized alopecia, blue sclera, jagged teeth, short neck, joint laxity and generalized hypotonia...

Notes

Compliance with Ethical Standards

Conflict of Interest

None.

References

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    Marshall JD, Maffei P, Collin GB, Naggert JK. Alström syndrome: genetics and clinical overview. Curr Genomics. 2011;12:225–35.CrossRefPubMedPubMedCentralGoogle Scholar
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    Andersen JS, Wilkinson CJ, Mayor T, Mortensen P, Nigg EA, Mann M. Proteomic characterization of the human centrosome by protein correlation profiling. Nature. 2003;426:570–4.CrossRefPubMedGoogle Scholar
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    Hearn T, Spalluto C, Phillips VJ, et al. Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes. Diabetes. 2005;54:1581–7.CrossRefPubMedGoogle Scholar
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Copyright information

© Dr. K C Chaudhuri Foundation 2018

Authors and Affiliations

  • Taha Resid Ozdemir
    • 1
  • Neslihan Edeer Karaca
    • 2
  • Jan Davis Marshall
    • 3
  • Necil Kutukculer
    • 2
  • Guzide Aksu
    • 2
  • Riza Koksal Ozgul
    • 4
  • Aysegul Ozanturk
    • 4
  • Esra Isik
    • 2
  • Bilcag Akgun
    • 2
  • Hamiyet Hekimci Ozdemir
    • 2
  • Sukran Darcan
    • 2
  • Ferda Ozkinay
    • 2
    • 5
  • Ozgur Cogulu
    • 2
    • 5
  1. 1.Izmir Tepecik Training and Research HospitalGenetic Diagnostic CenterIzmirTurkey
  2. 2.Ege University Faculty of Medicine, Department of PediatricsIzmirTurkey
  3. 3.The Jackson LaboratoryBar HarborUSA
  4. 4.Hacettepe University, Institute of Child Health and Faculty of Medicine, Section of Nutrition and Metabolism, Department of PediatricsAnkaraTurkey
  5. 5.Ege University Faculty of Medicine, Department of Medical GeneticsIzmirTurkey

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