GAPO syndrome with pansutural craniosynostosis leading to intracranial hypertension.
GAPO syndrome stands for growth retardation (G), alopecia (A), pseudoanodontia (P) and optic atrophy (O). To date, only about 35 cases of this extremely rare syndrome have been reported. Craniosynostosis/craniostenosis is a condition with an abnormal head shape due to premature fusion of the calvarial sutures and can be either non-syndromic or syndromic. Overall, craniosynostosis has an incidence of about 1 in 2500 live-births. We present a patient with GAPO syndrome in association with craniosynostosis along with intracranial hypertension, which was the cause of her headache. To the best of our knowledge, this is the first such association in the literature.
Department of Neurosurgery, All India Institute of Medical Sciences (AIIMS), New Delhi, India.
Nishant
N
Goyal
Hitesh
H
Gurjar
Bhawani Shankar
BS
Sharma
Manjari
M
Tripathi
P Sarat
PS
Chandra
D000505:Alopecia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D000848:Anodontia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D006130:Growth Disorders / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D019586:Intracranial Hypertension / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D015418:Optic Atrophies, Hereditary / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree; D014057:Tomography, X-Ray Computed; D055815:Young Adult