Publication: Tale of Hairy Toddler with Masculine Appearance: Berardinelli-Seip Congenital Lipodystrophy Syndrome - A case Report
| creativeworkseries.issn | ISSN 1990-7974 eISSN 1990-7982 | |
| dc.contributor.author | Lakra, Niva | |
| dc.contributor.author | Paul, Abhik | |
| dc.contributor.author | Shitiri, Chumjamo W | |
| dc.contributor.author | Datta, Supratim | |
| dc.date.accessioned | 2025-10-12T09:29:48Z | |
| dc.date.available | 2025-10-12T09:29:48Z | |
| dc.date.issued | 2025 | |
| dc.description | Niva Lakra Senior Resident,All from Department of Paediatric Medicine, Institute of Post Graduate Medical Education & Research, SSKM Hospital, Kolkata, West Bengal, India. Abhik Paul Senior Resident,All from Department of Paediatric Medicine, Institute of Post Graduate Medical Education & Research, SSKM Hospital, Kolkata, West Bengal, India. Chumjamo W Shitiri Postgraduate trainee,All from Department of Paediatric Medicine, Institute of Post Graduate Medical Education & Research, SSKM Hospital, Kolkata, West Bengal, India. Supratim Datta Professor and Head of Department, All from Department of Paediatric Medicine, Institute of Post Graduate Medical Education & Research, SSKM Hospital, Kolkata, West Bengal, India. | |
| dc.description.abstract | Abstract: Berardinelli-Seip congenital lipodystrophy syndrome is an autosomal recessive metabolic disorder characterised by severe generalised lipodystrophy, insulin resistance and hypertriglyceridemia since early infancy. Complications include: insulin resistant diabetes mellitus, early onset of liver cirrhosis, renal failure, hypertrophic cardiomyopathy. Here we report a 16‑months male child presenting with generalised lack of adipose tissue, tall stature, muscular body habitus, penile hypertrophy, acanthosis nigricans, hypertrichosis and venous prominence. Diagnosis was made by clinical phenotype, biochemical abnormalities and genetic evaluation. Customised low-fat diet was given along with physical activities. There has been gradual improvement in the laboratory parameters. This case report creates awareness regarding this rare metabolic syndrome as early recognition and customised medical therapy including novel therapy like Metreleptin replacement is essential to control and prevent the complications. | |
| dc.identifier | https://doi.org/10.60086/jnps.v45i2.1318 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14572/2598 | |
| dc.language.iso | en_US | |
| dc.publisher | Perinatal Society of Nepal (PESON) | |
| dc.subject | BSCL | |
| dc.subject | Congenital generalised lipodystrophy | |
| dc.subject | Insulin resistance | |
| dc.subject | Metreleptin therapy | |
| dc.title | Tale of Hairy Toddler with Masculine Appearance: Berardinelli-Seip Congenital Lipodystrophy Syndrome - A case Report | |
| dc.type | Article | |
| dspace.entity.type | Publication | |
| local.article.type | Case Report | |
| oaire.citation.endPage | 54 | |
| oaire.citation.startPage | 52 | |
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