Tuberous sclerosis associated with partial gigantism in a child.
The authors report a case of a six-year-old boy with seizures, mental retardation and some classic features of tuberous sclerosis, i.e., cutaneous hypomelanotic macules, poliosis, cyst-like lesions of the right upper limb and cerebral calcifications. From birth he showed partial gigantism of the first two fingers of the right hand associated with an arteriovenous malformation of the ulnar artery and agenesis of the radial artery. The EEG and CT scan studies are also reported. The occurrence of two dysgenetic disorders in one patient as a manifestation of disturbed embryogenesis at a very early stage of development is discussed.
Colamaria
V
V
Pediatric Clinic, Verona University, Italy.
Zambelli
L
L
Tinazzi
P
P
Dalla Bernardina
B
B
D000792:Angiography; D001132:Arm / Q000098:blood supply; D001165:Arteriovenous Malformations / Q000000981:diagnostic imaging; D001932:Brain Neoplasms / Q000000981:diagnostic imaging; D002114:Calcinosis / Q000000981:diagnostic imaging; D002675:Child, Preschool; D005385:Fingers / Q000002:abnormalities; D005877:Gigantism / Q000150:complications*; D006222:Hamartoma / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D009778:Occipital Lobe; D010296:Parietal Lobe; D014057:Tomography, X-Ray Computed; D014402:Tuberous Sclerosis / Q000150:complications* / Q000000981:diagnostic imaging