Literature DB >> 11965163

[Value of imaging in GAPO syndrome].

S Goucha1, N Mnif, T Bouhala, F Tenzakhti, H El Andaloussi, B Fazaa, R Hamza, M R Kamoun.   

Abstract

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.

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Mesh:

Year:  2002        PMID: 11965163

Source DB:  PubMed          Journal:  J Radiol        ISSN: 0221-0363


  3 in total

1.  GAPO syndrome with craniosynostosis and intracranial hypertension.

Authors:  Mehdi Golpayegani; Farhad Salari; Zohreh Habibi; Negin Naderian; Farideh Nejat
Journal:  Childs Nerv Syst       Date:  2019-06-23       Impact factor: 1.475

Review 2.  Comprehensive review of the mastoid foramen.

Authors:  Cindy Wang; Joseph Lockwood; Joe Iwanaga; Aaron S Dumont; C J Bui; R Shane Tubbs
Journal:  Neurosurg Rev       Date:  2020-06-07       Impact factor: 3.042

3.  Mastoid emissary foramina: an anatomical morphological study with discussion on their evolutionary and clinical implications.

Authors:  B V Murlimanju; Ganesh Kumar Chettiar; M D Prameela; Mamatha Tonse; Naveen Kumar; Vasudha V Saralaya; Latha V Prabhu
Journal:  Anat Cell Biol       Date:  2014-09-23
  3 in total

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