Metabolic Syndrome in Childhood

Rare Case of Alstrom Syndrome with Blindness

Afzal Ahmad, Benedicta D’Souza, Charu Yadav, Ashish Agarwal, Anand Kumar, M. Nandini, Vivian D’Souza, A. M. Poornima, Nutan Kamath

Research output: Contribution to journalArticle

Abstract

Alstrom’s syndrome (AS) is a rare autosomal recessive ciliopathic condition affecting 1:10,00,000 children. It’s a single gene disorder of ALMS1 on chromosome 2 with multisystem involvement with cone-rod retinal dystrophy causing juvenile blindness, obesity, insulin resistance, type 2 Diabetes mellitus, hypogonadism and sensorineural hearing loss. Till now only 800 patients with this disorder has been identified so far. In this report, we describe the case of a 9-year old male boy from south India. He had been initially referred for polyphagia, polyuria, polydipsia, generalized weakness from 1 weeks. On examination he was demonstrated features suggestive of AS, including blindness, obesity, type 2 diabetes, altered lipid profile, hypogonadism, acanthosis nigricans, seborrheic dermatitis, right ear discharge and episodes of respiratory tract infections. So, diagnosis of AS is critical as it can easily be overlooked because of the many features associated with metabolic syndrome starting at age 7, a relatively early age.

Original languageEnglish
Pages (from-to)480-482
Number of pages3
JournalIndian Journal of Clinical Biochemistry
Volume31
Issue number4
DOIs
Publication statusPublished - 01-10-2016

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Alstrom Syndrome
Blindness
Medical problems
Hypogonadism
Dermatitis
Type 2 Diabetes Mellitus
Audition
Chromosomes
Obesity
Acanthosis Nigricans
Seborrheic Dermatitis
Polydipsia
Cones
Polyuria
Hyperphagia
Chromosomes, Human, Pair 2
Sensorineural Hearing Loss
Genes
Insulin
Lipids

All Science Journal Classification (ASJC) codes

  • Clinical Biochemistry

Cite this

Ahmad, Afzal ; D’Souza, Benedicta ; Yadav, Charu ; Agarwal, Ashish ; Kumar, Anand ; Nandini, M. ; D’Souza, Vivian ; Poornima, A. M. ; Kamath, Nutan. / Metabolic Syndrome in Childhood : Rare Case of Alstrom Syndrome with Blindness. In: Indian Journal of Clinical Biochemistry. 2016 ; Vol. 31, No. 4. pp. 480-482.
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Ahmad, A, D’Souza, B, Yadav, C, Agarwal, A, Kumar, A, Nandini, M, D’Souza, V, Poornima, AM & Kamath, N 2016, 'Metabolic Syndrome in Childhood: Rare Case of Alstrom Syndrome with Blindness', Indian Journal of Clinical Biochemistry, vol. 31, no. 4, pp. 480-482. https://doi.org/10.1007/s12291-015-0543-8

Metabolic Syndrome in Childhood : Rare Case of Alstrom Syndrome with Blindness. / Ahmad, Afzal; D’Souza, Benedicta; Yadav, Charu; Agarwal, Ashish; Kumar, Anand; Nandini, M.; D’Souza, Vivian; Poornima, A. M.; Kamath, Nutan.

In: Indian Journal of Clinical Biochemistry, Vol. 31, No. 4, 01.10.2016, p. 480-482.

Research output: Contribution to journalArticle

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