Alstrom syndrome—a diagnostic dilemma

M. S. Rukmini, Madan Gopal Rajan, A. Puneeth, M. Soundarya

Research output: Contribution to journalArticle

Abstract

Alstrom syndrome is a rare autosomal recessive genetic disorder first described in 1959. The syndrome with an estimated prevalence of less than 1 in 1 million has about 700 cases reported worldwide and only about 20 cases have been reported from India. The features of the syndrome include progressive retinal dystrophy and sensorineural deafness with phenotypic similarity to features of metabolic syndrome. Authors report a case of a 9-year-old boy referred to tertiary care hospital for evaluation of elevated blood glucose with polyuria, polydypsia and polyphagia. The child presented with blindness since childhood with delayed motor milestones. The child has normal intellect and noted to have central obesity, hypertension, acanthosis nigricans and micropenis with atrophic testes. Investigations revealed hyperglycemia with glycated haemoglobin of 10 %, hypertriglyceridemia and microalbuminuria. DNA sequence analysis showed a homozygous mutation detected in exon 10 of ALMS1 gene resulting in insertion of ‘T’ between 8150 and 8151 nucleotides of exon 10, thereby resulting in replacement of Ser by Phe at codon 2719 and development of Alstrom’s syndrome. The boy was treated with insulin and metformin for elevated blood glucose and fibrates for hypertriglyceridemia.

Original languageEnglish
Pages (from-to)88-91
Number of pages4
JournalInternational Journal of Diabetes in Developing Countries
Volume37
Issue number1
DOIs
Publication statusPublished - 01-03-2017

Fingerprint

Alstrom Syndrome
Hypertriglyceridemia
Blood Glucose
Exons
Retinal Dystrophies
Acanthosis Nigricans
Fibric Acids
Polyuria
Hyperphagia
Inborn Genetic Diseases
Abdominal Obesity
Metformin
Glycosylated Hemoglobin A
Deafness
Tertiary Healthcare
Blindness
DNA Sequence Analysis
Tertiary Care Centers
Codon
Hyperglycemia

All Science Journal Classification (ASJC) codes

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism

Cite this

Rukmini, M. S. ; Rajan, Madan Gopal ; Puneeth, A. ; Soundarya, M. / Alstrom syndrome—a diagnostic dilemma. In: International Journal of Diabetes in Developing Countries. 2017 ; Vol. 37, No. 1. pp. 88-91.
@article{75777a24245b40c4ad4d96facfd2e102,
title = "Alstrom syndrome—a diagnostic dilemma",
abstract = "Alstrom syndrome is a rare autosomal recessive genetic disorder first described in 1959. The syndrome with an estimated prevalence of less than 1 in 1 million has about 700 cases reported worldwide and only about 20 cases have been reported from India. The features of the syndrome include progressive retinal dystrophy and sensorineural deafness with phenotypic similarity to features of metabolic syndrome. Authors report a case of a 9-year-old boy referred to tertiary care hospital for evaluation of elevated blood glucose with polyuria, polydypsia and polyphagia. The child presented with blindness since childhood with delayed motor milestones. The child has normal intellect and noted to have central obesity, hypertension, acanthosis nigricans and micropenis with atrophic testes. Investigations revealed hyperglycemia with glycated haemoglobin of 10 {\%}, hypertriglyceridemia and microalbuminuria. DNA sequence analysis showed a homozygous mutation detected in exon 10 of ALMS1 gene resulting in insertion of ‘T’ between 8150 and 8151 nucleotides of exon 10, thereby resulting in replacement of Ser by Phe at codon 2719 and development of Alstrom’s syndrome. The boy was treated with insulin and metformin for elevated blood glucose and fibrates for hypertriglyceridemia.",
author = "Rukmini, {M. S.} and Rajan, {Madan Gopal} and A. Puneeth and M. Soundarya",
year = "2017",
month = "3",
day = "1",
doi = "10.1007/s13410-016-0520-7",
language = "English",
volume = "37",
pages = "88--91",
journal = "International Journal of Diabetes in Developing Countries",
issn = "0973-3930",
publisher = "Springer India",
number = "1",

}

Alstrom syndrome—a diagnostic dilemma. / Rukmini, M. S.; Rajan, Madan Gopal; Puneeth, A.; Soundarya, M.

In: International Journal of Diabetes in Developing Countries, Vol. 37, No. 1, 01.03.2017, p. 88-91.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Alstrom syndrome—a diagnostic dilemma

AU - Rukmini, M. S.

AU - Rajan, Madan Gopal

AU - Puneeth, A.

AU - Soundarya, M.

PY - 2017/3/1

Y1 - 2017/3/1

N2 - Alstrom syndrome is a rare autosomal recessive genetic disorder first described in 1959. The syndrome with an estimated prevalence of less than 1 in 1 million has about 700 cases reported worldwide and only about 20 cases have been reported from India. The features of the syndrome include progressive retinal dystrophy and sensorineural deafness with phenotypic similarity to features of metabolic syndrome. Authors report a case of a 9-year-old boy referred to tertiary care hospital for evaluation of elevated blood glucose with polyuria, polydypsia and polyphagia. The child presented with blindness since childhood with delayed motor milestones. The child has normal intellect and noted to have central obesity, hypertension, acanthosis nigricans and micropenis with atrophic testes. Investigations revealed hyperglycemia with glycated haemoglobin of 10 %, hypertriglyceridemia and microalbuminuria. DNA sequence analysis showed a homozygous mutation detected in exon 10 of ALMS1 gene resulting in insertion of ‘T’ between 8150 and 8151 nucleotides of exon 10, thereby resulting in replacement of Ser by Phe at codon 2719 and development of Alstrom’s syndrome. The boy was treated with insulin and metformin for elevated blood glucose and fibrates for hypertriglyceridemia.

AB - Alstrom syndrome is a rare autosomal recessive genetic disorder first described in 1959. The syndrome with an estimated prevalence of less than 1 in 1 million has about 700 cases reported worldwide and only about 20 cases have been reported from India. The features of the syndrome include progressive retinal dystrophy and sensorineural deafness with phenotypic similarity to features of metabolic syndrome. Authors report a case of a 9-year-old boy referred to tertiary care hospital for evaluation of elevated blood glucose with polyuria, polydypsia and polyphagia. The child presented with blindness since childhood with delayed motor milestones. The child has normal intellect and noted to have central obesity, hypertension, acanthosis nigricans and micropenis with atrophic testes. Investigations revealed hyperglycemia with glycated haemoglobin of 10 %, hypertriglyceridemia and microalbuminuria. DNA sequence analysis showed a homozygous mutation detected in exon 10 of ALMS1 gene resulting in insertion of ‘T’ between 8150 and 8151 nucleotides of exon 10, thereby resulting in replacement of Ser by Phe at codon 2719 and development of Alstrom’s syndrome. The boy was treated with insulin and metformin for elevated blood glucose and fibrates for hypertriglyceridemia.

UR - http://www.scopus.com/inward/record.url?scp=85014448344&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85014448344&partnerID=8YFLogxK

U2 - 10.1007/s13410-016-0520-7

DO - 10.1007/s13410-016-0520-7

M3 - Article

AN - SCOPUS:85014448344

VL - 37

SP - 88

EP - 91

JO - International Journal of Diabetes in Developing Countries

JF - International Journal of Diabetes in Developing Countries

SN - 0973-3930

IS - 1

ER -