BACKGROUND: Distal hereditary motor neuropathy type V (dHMN-V) and Silver 
syndrome are rare phenotypically overlapping diseases which can be caused by 
mutations in the Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2) gene or 
Seipin.
AIM: To report the first Serbian family with a BSCL2 mutation showing variable 
expression within the family.
PATIENTS AND METHODS: A 55-year-old woman presented with weakness of both hands 
at the age of 45. At age 47, she noticed distal muscle weakness and atrophy in 
her legs. Physical examination revealed atrophy and weakness of small hand 
muscles and mild atrophy and weakness of the lower limbs. There was generalized 
hyperreflexia with the exception of ankle reflexes which were diminished. Her 
25year-old son had only stiffness of both legs at the age of 22. Physical 
examination revealed only generalized hyporeflexia. The third affected member in 
this family was her 55year-old cousin who showed a more prominent involvement of 
leg muscles with mild asymmetrical weakness of hand muscles and no pyramidal 
tract features.
RESULTS: In all three patients sensory nerve conduction velocities (NCV) were 
normal in all extremities. Compound muscle action potential (CMAP) amplitudes 
were markedly reduced in all patients. Concentric needle EMG showed evidence of 
chronic denervation in distal muscles. DNA sequencing of BSCL2 was performed and 
a heterozygous N88S missense mutation in BSCL2 gene was detected in all three 
patients.
CONCLUSION: This report is further confirmation of phenotypic heterogenity due 
to the N88S mutation of BSCL2 gene in the same family.