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Case Reports
. 2018 Fall;12(4):162-168.

Cockayne Syndrome Misdiagnosed as Cerebral Palsy

Amiereza Vafaee  1 , Taghi Baghdadi  1 , Sara Norouzzadeh  1
Affiliations
Case Reports

Cockayne Syndrome Misdiagnosed as Cerebral Palsy

Amiereza Vafaee et al. Iran J Child Neurol. 2018 Fall.

Abstract

A 7-yr-old patient was referred to pediatric orthopedic clinic of Imam hospital (2016) with the diagnosis of cerebral palsy (CP). His parents were concerned about some inconsistency of his disease progression. After initial evaluations, the diagnosis of CP was incorrect. The true diagnosis was suspected and confirmed with molecular genetic analysis. A rare autosomal recessive disorder -Cockayne syndrome- was diagnosed. Although untreatable, it can be prevented by appropriate prenatal diagnostic tests for their future children.

Keywords: Cerebral palsy; Cockayne syndrome; Prenatal diagnosis.

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Conflict of interest statement

The authors declare that there is no conflict of interest.

Figures

Figure 1
Figure 1
Unstable sitting balance at the age of 7 years
Figure 2
Figure 2
Head circumference of the patient during the first 15 months
Figure 3
Figure 3
Patient face at 9 months and 7 yr old
See this image and copyright information in PMC

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