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DOI: 10.1055/s-0037-1603016
A Rare Cause of Congenital Ptosis with External Ophthalmoplegia: Case Report and Differential Diagnosis
Publication History
Publication Date:
26 April 2017 (online)
Background: Ptosis and external ophthalmoplegia are main signs of some neurological diseases of childhood. An accurate assignment has diagnostic and therapeutic consequences.
Methods: A 7-month-old girl presented with congenital bilateral ptosis and a movement disorder with head reclination. On physical examination, there was a limitation of gaze. No further neurological abnormalities were noted. Differential diagnosis includes CFEOM (“congenital fibrosis of the extraocular muscles”), congenital myasthenic syndromes, and CPEO (“chronic progressive external ophthalmoplegia”) in the context of mitochondrial diseases. Clinical features of these diseases are shown in videos.
Results: The head reclination is a compensatory position due to the impaired gaze. The cranial MRI showed a symmetrical atrophy of the Mm. superiors and Mm. recti medialis and lateralis bilateral, consistent—along with the congenital onset without progression and without becoming more marked toward the end of the day—with a fibrosis of the extraocular muscles. Genetic testing revealed a mutation in the KIF21A gene and confirmed the diagnosis of a CFEOM disease.
Conclusion: The etiology of ptosis with ophthalmoplegia in childhood and adolescence is miscellaneous. Clinical manifestations and physical examination can be suggestive for a more specific genetic analysis. A definitive diagnosis is important both for the patient and for the family. Therapy is symptomatic and includes eye surgery. CFEOM is an autosomal dominant inherited disorder with a complete penetrance for the most common mutations; therefore, genetic counseling is necessary.