Acrocallosal syndrome in a young hypertensive male.
Acrocallosal syndrome is an extremely rare genetic disorder with autosomal recessive inheritance. It is characterised by moderate to severe mental retardation, hypotonia, agenesis of the corpus callosum and preaxial polydactyly involving both feet and the facial features like broad forehead and hypertelorism. The authors report a case of a young hypertensive male who presented with unprovoked seizures for the first time who had multiple craniofacial, digital dysmorphic features with moderate mental retardation. The diagnosis of acrocallosal syndrome was arrived at after neuroimaging showed agenesis of corpus callosum with interhemispheric cysts.
Department of Medicine, Lokmanya Tilak Municipal Medical College and General Hospital, Mumbai, India.
Vishal V
VV
Ramteke
Pramod A
PA
Darole
Zohaib Farooqui
ZF
Shaikh
Namita J
NJ
Padwal
Brijesh
B
Agrawal
Makardhwaj S
MS
Shrivastava
Sandhya
S
Kamath
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000209:etiology; D055673:Acrocallosal Syndrome / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D001921:Brain / Q000002:abnormalities / Q000473:pathology; D006801:Humans; D006973:Hypertension / Q000209:etiology*; D008607:Intellectual Disability / Q000209:etiology; D008279:Magnetic Resonance Imaging; D008297:Male; D059906:Neuroimaging; D055815:Young Adult