[Value of imaging in GAPO syndrome].
GAPO syndrome is a rare genetic disorder. The term GAPO is the acronym for the manifestations: Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy. We report the case of a 12 year-old boy with GAPO syndrome. Physical examination was remarkable for: dilated scalp veins with two flaccid masses of the vertex and the right mastoid area that was pulsatile with an audible bruit. Brain magnetic resonance imaging (MRI), magnetic resonance angiography (MRA) and cerebral angiography showed very prominent cortical veins, hypoplasia of the left transverse sinus, agenesis of the left jugular vein and left sigmoid sinus with 2 enlarged emissary veins underlying the palpable scalp masses. We suggest that brain MRI and MRA should be performed in patients with GAPO syndrome to detect anomalies of the intracranial venous circulation.
Goucha
S
S
Unité de Dermatologie, Hôpital Mongi Slim, Sidi Daoud, Tunis, France. samia.goucha@ms.tn
Mnif
N
N
Bouhala
T
T
Tenzakhti
F
F
El Andaloussi
H
H
Fazaa
B
B
Hamza
R
R
Kamoun
M R
MR
D000505:Alopecia / Q000175:diagnosis; D000848:Anodontia / Q000175:diagnosis; D002648:Child; D004392:Dwarfism / Q000175:diagnosis; D006801:Humans; D008297:Male; D009896:Optic Atrophy / Q000175:diagnosis; D013577:Syndrome