GAPO syndrome with pansutural craniosynostosis leading to intracranial hypertension

Nishant Goyal; Hitesh Gurjar; Bhawani Shankar Sharma; Manjari Tripathi; P Sarat Chandra

doi:10.1136/bcr-2013-201727

GAPO syndrome with pansutural craniosynostosis leading to intracranial hypertension

BMJ Case Rep. 2014 Jan 28:2014:bcr2013201727. doi: 10.1136/bcr-2013-201727.

Authors

Nishant Goyal¹, Hitesh Gurjar, Bhawani Shankar Sharma, Manjari Tripathi, P Sarat Chandra

Affiliation

¹ Department of Neurosurgery, All India Institute of Medical Sciences (AIIMS), New Delhi, India.

Abstract

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.

Publication types

Case Reports

MeSH terms

Alopecia / complications*
Alopecia / diagnosis
Alopecia / genetics
Anodontia / complications*
Anodontia / diagnosis
Anodontia / genetics
Diagnosis, Differential
Female
Follow-Up Studies
Growth Disorders / complications*
Growth Disorders / diagnosis
Growth Disorders / genetics
Humans
Intracranial Hypertension / diagnosis
Intracranial Hypertension / etiology*
Intracranial Hypertension / genetics
Optic Atrophies, Hereditary / complications*
Optic Atrophies, Hereditary / diagnosis
Optic Atrophies, Hereditary / genetics
Pedigree
Tomography, X-Ray Computed
Young Adult

Supplementary concepts

Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy