A child resides within a young adult: The first reported case of Alström syndrome in Bangladesh

A 32‐year‐old male case with short stature presented to us with audio‐visual impairment, obesity, impaired glucose tolerance, dyslipidemia, and hypogonadism. The single‐gene genetic analysis revealed an ALMS1 gene mutation. A diagnosis of ALMS was reached for meeting one major and four minor criteri...

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Bibliographic Details
Published in:Clinical case reports 2022-12, Vol.10 (12), p.e6720-n/a
Main Authors: Ahmed, Mushfiq Newaz, Jabin, Nowshin, Iktidar, Mohammad Azmain, Arafat, Shohael Mahmud, Khan, Abed Hussain, Mitra, Avrow, Chowdhury, Romana
Format: Article
Language:English
Subjects:
ALMS1
alström syndrome
alström–hallgren syndrome
Audiometry
Case Report
Case reports
Cholesterol
ciliopathy
Convulsions & seizures
Diabetes
Family medical history
Glucose
Hearing loss
hereditary sensory and motor neuropathy
High density lipoprotein
Insulin resistance
Laboratories
Learning disabilities
Low density lipoprotein
Males
Metabolic disorders
Microcephaly
Mutation
Obesity
Testes
Testosterone
Citations: Items that this one cites
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Summary:A 32‐year‐old male case with short stature presented to us with audio‐visual impairment, obesity, impaired glucose tolerance, dyslipidemia, and hypogonadism. The single‐gene genetic analysis revealed an ALMS1 gene mutation. A diagnosis of ALMS was reached for meeting one major and four minor criteria. Alström syndrome is a rare multi‐system involving genetic condition with no definitive curative option available. Making the diagnosis at the earliest possible time is the key to providing proper counseling and psychological support as well as ensuring a comprehensive approach for symptomatic management of each condition and meticulous follow‐up.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.6720