Juvenile Behçet's disease: highlighting neuropsychiatric manifestations and putative genetic mechanisms.
Behçet's disease is a multisystem inflammatory disorder of unknown etiology. We report a 12-year-old boy who presented with features of raised intracranial tension and seizures and was found to have cerebral venous sinus thrombosis on evaluation. Behçet's disease was diagnosed based on occurrence of recurrent oral and genital ulcers in the past and characteristic skin lesions subsequently. He also showed significant personality changes including multiple attempts of deliberate self-harm. Pedigree analysis revealed that six family members spanning three generations had recurrent oral ulcers and three members satisfied the criteria for Behçet's disease. Clinical features varied amongst the family members and there was suggestion of genetic anticipation. The index case was carrying HLA-B37/B7 and the mother was carrying B37/B40. Our report sheds light on the genetics of Behçet's disease. Unusual features were early age of onset, cerebral venous sinus thrombosis, significant personality changes and strong family history with phenotypic heterogeneity.
Panicker
J N
JN
Department of Neurology, Amrita Institute of Medical Sciences, Kochi 682026, India. jaleshnpanicker@aimshospital.org
Vinayan
K P
KP
Ahsan Moosa
N V
NV
Elango
E M
EM
Kumar
A Anand
AA
D020132:Anticipation, Genetic; D001528:Behcet Syndrome / Q000235:genetics*; D002648:Child; D003866:Depressive Disorder / Q000175:diagnosis / Q000235:genetics; D005838:Genotype; D015235:HLA-B Antigens / Q000235:genetics; D059912:HLA-B37 Antigen; D059947:HLA-B40 Antigen; D015793:HLA-B7 Antigen / Q000235:genetics; D006801:Humans; D018810:Magnetic Resonance Angiography; D008297:Male; D009483:Neuropsychological Tests; D010375:Pedigree; D010554:Personality Disorders / Q000175:diagnosis / Q000235:genetics*; D020225:Sagittal Sinus Thrombosis / Q000175:diagnosis / Q000235:genetics*; D013223:Statistics as Topic; D013406:Suicide, Attempted / Q000523:psychology
D015235:HLA-B Antigens; D059912:HLA-B37 Antigen; D059947:HLA-B40 Antigen; D015793:HLA-B7 Antigen