Diabetes in the young – a case of Alström syndrome with myopathy

Bronson, Stephen Charles; Moses, C; Periyandavar, I; Dharmarajan, P; Suresh, Eadala; Shanmugam, Alagianambi; Vasuki, R.; Venkatesh, D; Amudha, J.

doi:10.4997/jrcpe.2015.108

Cited by 6 publications

(11 citation statements)

References 2 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…But in the present case, complete loss of vision developed when the patient was only 4-5 months old that shows premature cone-rod dystrophy in this patient. The classic description by Alstrom et al included obesity (98 %), insulin resistance (92 %), sensory neural deafness (88 %), T2DM (68 %) and cardiomyopathy (60 %) [7]. In our patient all these findings were present except for cardiomyopathy.…”

Section: Discussionsupporting

confidence: 53%

“…In AS, symptoms of cone dystrophy usually begin in infancy and rod function is also impaired by five years [7]. But in the present case, complete loss of vision developed when the patient was only 4-5 months old that shows premature cone-rod dystrophy in this patient.…”

Section: Discussionmentioning

confidence: 50%

“…Specific treatment is directed towards management of complications. If feasible, carrier testing for relatives and prenatal testing are advisable [7]. An interesting thing is that AS and BBS both are caused by genes that belong to the same biochemical pathway.…”

Section: Discussionmentioning

confidence: 99%

“…Differential diagnoses include Bardet-Biedl syndrome, achromatopsia, Leber's congenital amaurosis, inherited mitochondrial disorders, Usher and Cohen syndromes [7]. Bardet-Biedl Syndrome (BBS) generally appears like AS but differs from AS in clinical features like polydactyly, brachidactyly, syndactyly, hypodontia, 50 % mental retardation and mutations of BBS gene [4].…”

Section: Discussionmentioning

confidence: 99%

See 3 more Smart Citations

Metabolic Syndrome in Childhood: Rare Case of Alstrom Syndrome with Blindness

et al. 2015

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionsupporting

confidence: 53%

Section: Discussionmentioning

confidence: 50%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Metabolic Syndrome in Childhood: Rare Case of Alstrom Syndrome with Blindness

et al. 2015

View full text Add to dashboard Cite

show abstract

“…It affects about 1:100,000 individuals [1] and only 800 patients with this disorder have been identified. [2] Alström patients typically show obesity, retinal dystrophy, sensorineural hearing loss, and endocrinological features including insulin- resistant diabetes, hypertriglyceridemia, hypothyroidism, and hypogonadism. Other features that lead to the correct diagnosis are dilated cardiomyopathy and progressive pulmonary, hepatic, and renal failure.…”

Section: Introductionmentioning

confidence: 99%

Alström syndrome

et al. 2017

View full text Add to dashboard Cite

Rationale:Alström syndrome is an autosomal recessive disorder characterized by hearing loss, blindness, obesity, non-insulin dependent diabetes, and others.Patient concern:A 10 years old Saudi girl, who presented with diabetic ketoacidosis and found to have hearing loss and blindness.Diagnosis:Alström syndrome.Interventions:Multidisciplinary team approach, with echocardiography, hearing test, eye exam and genetic test for Alström syndrome.Outcomes:The patient has retinitis pigmentosa, bilateral hearing loss, double diabetes with weakly positive anti-insulin antibodies and DNA analysis showed novel mutation for Alström syndrome.Lessons:the combination of obesity, diabetes, hearing loss and blindness should alert the physician to test for Alström syndrome.

show abstract

Overburden of rare ALMS1 deleterious variants in Chinese early‐onset type 2 diabetes with severe insulin resistance

Zhang,

Gong,

et al. 2024

Diabetes Metabolism Res

View full text Add to dashboard Cite

AimsAlström syndrome (AS) is a rare recessive disorder characterised by diabetes, obesity, insulin resistance (IR), and visual and hearing impairments. Mutations in the ALMS1 gene have been identified as the causative agents of AS. This study aimed to explore the relationship between rare ALMS1 variants and clinical features in Chinese patients with early‐onset type 2 diabetes (age at diagnosis ≤40 years; EOD).Materials and MethodsALMS1 gene sequencing was performed in 611 Chinese individuals with EOD, 36 with postprandial hyperinsulinemia, and 47 with pre‐diabetes and fasting IR. In‐silico prediction algorithm and the American College of Medical Genetics Guidelines (ACMG) were used to evaluate the deleteriousness and pathogenicity of the variants.ResultsSixty‐two rare ALMS1 variants (frequency <0.005) were identified in 82 patients with EOD. Nineteen variants were predicted to be deleterious (pD). Patients with EOD carrying pD variants had higher fasting C‐peptide, postprandial C‐peptide, and HOMA2‐IR levels than those without variants. The frequency of ALMS1 pD variants in the subgroup with more insulin‐resistant EOD was higher than that in other EOD subgroups. Two patients with EOD, obesity, and IR who carried one heterozygous pathogenic/likely pathogenic rare variant of ALMS1 according to ACMG were identified. Moreover, rare heterozygous pD variants of ALMS1 were found in participants from cohorts of postprandial hyperinsulinemia as well as in pre‐diabetes with fasting IR.ConclusionsALMS1 rare pD variants are enriched in the populations with significant IR, which is a major hallmark of diabetes pathogenesis. Accordingly, our exploratory study provides insights and hypotheses for further studies of gene function.

show abstract

Diabetes in the young – a case of Alström syndrome with myopathy

Cited by 6 publications

References 2 publications

Metabolic Syndrome in Childhood: Rare Case of Alstrom Syndrome with Blindness

Metabolic Syndrome in Childhood: Rare Case of Alstrom Syndrome with Blindness

Alström syndrome

Overburden of rare ALMS1 deleterious variants in Chinese early‐onset type 2 diabetes with severe insulin resistance

Contact Info

Product

Resources

About