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The Hallermann-Streiff Syndrome: A Case Report

1Mücke I., 2Käsmann-Kellner B., 2Ruprecht K. W.,
1Universität des Saarlandes, Augenklinik und Poliklinik (Homburg/Saar)
2Universitätskliniken des Saarlandes, Augenklinik und Poliklinik (Homburg/Saar)

Purpose: The Hallermann-Streiff syndrome (HSS; MIM: 234100) is rare and may result from a sporadic mutation. The syndrome typically consists of dysmorphic features with mandibulofacial malformation, proportionate short statue, ectodermal anomalies and, above all, of bilateral congenital cataracts and other variable ophthalmological disorders.
Case report: We present a 5-year-old female. Just after birth (34th week of pregnancy, small for date) bilateral congenital cataracts pathognomonical for HSS were diagnosed. However, first a duodenal atresy and a patent ductus arteriosus had to be treated surgically. Furthermore, an atrial septal defect, a proportionate microsomia, a palatal cleft, a dysmorphic face ("bird-like" face), dental abnormalities and a cerebral atrophy with the consequence of delayed language acquisition and slightly reduced intelligence levels were detected. Ophthalmologically, on both eyes a congenital cataract and a congenital glaucoma were observed. Therefore, on the right and the left eye cataract extraction and anterior vitrectomy were performed in the 6th week of life (not earlier due to necessity of abdominal and thoracic surgery). Since intraocular pressure (IOP) increased progressively, several IOP-reducing operations (trabeculectomy, trabeculotomy and cyclophotocoagulation) were performed on both eyes. In result, by only local apply of antiglaucomatous eye drops a normalized IOP could be achieved. Moreover, epicanthus and an entropium with trichiasis on both sides required electroepilation of eyelashes. On the left eye there is a Peter`s anomaly with corneal opacification, a microphthalmia, a lower and upper lid coloboma, ptosis as well as exotropia and hypertropia. The resulting divergent strabismus was treated by occlusion.
Conclusions: The girl shows all pathognomonic symptoms of HSS. Especially by early diagnosis of the obligatory bilateral cataracts, the ophthalmologist may confirm the diagnosis of HSS. The numerous ophthalmological disorders require consequent follow-ups life long to ensure a normal visual development.