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Berardinelli–Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive disorder characterised by near-complete absence of adipose tissue since birth or early infancy.1 Affected individuals have acanthosis nigricans, hyperandrogenism, muscular hypertrophy, hypertriglycaemia and altered glucose tolerance or diabetes mellitus. 1-Acyl-glycerol phosphate acyltransferase 2 (AGPAT2) and seipin gene were identified as candidate genes of congenital generalised lipodystrophy.2 3
The neurological manifestations in patients with seipin mutations are variable, including silver syndrome, variants of Charcot–Marie–Tooth disease type 2, distal hereditary motor neuropathy type V, spastic paraplegia and mental retardation.2 3 4 5 Herein we report a patient with congenital lipodystrophy who carries a novel compound heterozygous mutation in the seipin gene and presented with dystonia, mental retardation and behaviour change.
A 28-year-old man was admitted to the hospital because of progressive gait disturbance for several years. On examination, he had a distinctive appearance of hollow cheeks, apparent muscular hypertrophy, acromegaloid features of face, palms and soles, acanthosis nigricans of axilla and groin, abundant curly scalp hairs and generalised subcutaneous fat loss. In addition, there were torticollis, abnormal posturing of the fingers when the limbs were outstretched, axial dystonia and an abnormal thigh abduction and foot dystonia (in …
Competing interests None.
Patient consent Obtained.
YRW and SIH contributed equally.
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