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Crouzon Syndrome with Ophthalmological Complications

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Crouzon Syndrome with Ophthalmological Complications Journal of Rawalpindi Medical College (JRMC); 2012;16(1):80-81 Case Report Crouzon Syndrome With Ophthalmological Complications Rahela Nasir Paediatric Department, Capital Hospital, CDA Islamabad. Crouzon Syndrome is characterized by premature bilateral optic atrophy. Other facial features included a craniosynostosis. It has an autosomal dominant inheritance prominent nose and deep and narrow palate. No but represents fresh mutation also. Other craniofacial digital abnormalities were seen. No dental aplasia was abnormalities include ocular proptosis caused by shallow present. Systemic examination revealed no orbits with or without divergent strabismus. There may be abnormality. increased intracranial pressure for which surgical morcellation procedures are indicated. A case of He was diagnosed as a case of Crouzon syndrome craniosynostosis is reported which is diagnosed as Crouzon with ocular complications on clinical basis. He was Syndrome with ocular complications on clinical grounds. investigated for microcephaly and suspected Split craniotomy was performed by a neurosurgeon to craniosynostosis. Radiographs of skull showed small relieve raised intracranial pressure and to enhance brain sized skull with early closure of sutures and fontanelle growth. Crouzon Syndrome was originally described in 1912 suggestive of craniosynstosis(Fig 2). A hammered- by Crouzon in a mother and her daughter. It is an autosomal silver (beaten metal/ copper beaten) appearance was dominant inherited disorder but represents fresh mutation also seen due to raised intracranial pressure and also. Crouzon syndrome is characterized by premature compression of the developing brain on the fused craniosynostosis which is quite variable but the coronal suture is nearly always bilaterally involved. Craniofacial bone. CT scan brain with contrast was done which abnormalities include brachycephaly, shallow orbits and confirmed the features suggestive of craniosynostosis maxillary hypoplasia. Other facial features include with premature closure of sutures and pinched prominent nose, frontal bossing, ocular proptosis with or ventricular chain. It also showed shallow orbits with without divergent strabismus and hypertelorism, although proptosis(Fig 3). age related modifications have been reported. Here we The final diagnosis of craniosynostosis most report a case of 6-year-old boy who presented with visual likely Crouzon syndrome with ocular complications problems and was diagnosed clinically as a case of Crouzon was made. Child was referred to Neurosurgeon for Syndrome with ocular complications. split craniotomy. The surgery was uneventful. The child has improved, performing his daily chores Case Report appropriately and is school going. A six year old child presented to Paediatrics Department of Capital Development Authority Discussion Hospital with complaints of progressive bulging of Crouzon Syndrome (craniofacial dysostosis) was both eyes and decreased vision in the left eye since one originally described in 1912 by French Neurologist, month (Fig.1) There was no history of fever, headache, Octave Crouzon in a mother and her daughter.1 It is an vomiting or fits. The vision of the right eye was autosomal dominant inherited disorder but represents normal. His birth was uneventful. Mother had no fresh mutation also. The male-to-female antenatal problem. He attained his milestones at preponderance is 3:1. Crouzon syndrome, along with appropriate age. Other siblings were alive and healthy. Apert, Carpenter, Chotzen, and Pfeiffer syndromes, is For the past one month he was having visual one of the most common genetic disorders associated problems. On examination child was fully oriented in with a craniofacial syndrome.2 Mutations in fibroblast time, place and person. He was microcephalic with growth factor receptor gene (FGFR2) which maps to abnormal shape of skull and hypoplastic orbital chromosome 10p 25-q26, is responsible for greater ridges. There was bilateral proptosis with left than 90% of cases. 3 Incidence of Crouzon syndrome is divergent strabismus. Horizontal nystagmus was 1 in 25000 in the general population. observed in both eyes but was more marked in left This syndrome is characterized by premature eye. He had reduced vision. Funduscopy revealed craniosynostosis which is quite variable but the 80 Journal of Rawalpindi Medical College (JRMC); 2012;16(1):80-81 coronal suture is nearly always bilaterally involved. The degree of craniosynostosis as well as the age of procedures are indicated to reduce raised intracranial pressure and to allow normal brain development. Newer techniques allow for cosmetic reconstruction of facial bones. Prognosis depends on severity of malformation. Patients usually have normal lifespan Figure.1:Crouzon syndrome: Characteristic facial appearance. Note microcephaly, bilateral proptosis with left divergent strabismus, prominent nose. Fig 3: CT – scan Brain showing premature suture closure and pinched venticular chain. Fig 2: Plain X-ray skull of our patient showing In conclusion, early detection of Crouzon signs of raised ICP due to craniosynostosis. syndrome and its ocular complications is required to reduce the associated ophthalmic problems. Optic onset is variable. The shape of the head depends on atrophy remains an important cause of visual the timing and order of suture fusion but impairment in these patients before decompressive brachycephaly is the most common finding. The orbits craniotomy. are shallow and ocular proptosis with or without divergent strabismus are prominent. Hypoplasia of maxilla with or without curved parrot-like nose and References orbital hypertelorism are typical facial features. The 1. Jones KL, Smith S. Recognizable patterns of human phenotypic features of Crouzon syndrome may be malformation, Elsevier Saunders, 2006. 2. Maeda T,Hatakenaka M..Clinically mild, atypical, and aged absent at birth and evolve gradually during the first craniofacial syndrome is diagnosed as Crouzon syndrome few years of life. by identification of a point mutation in the fibroblast Other craniofacial abnormalities include exposure growth factor receptor 2 gene (FGFR2),” Internal Medicine, conjunctivitis or keratitis, unexplained poor visual 2004;43( 5)43235. 3. Reardon W, Winter RM.Mutations in the fibroblast growth acuity, optic atrophy, nystagmus, inverted V shaped factor receptor 2 gene cause Crouzon syndrome, Nature palate and conduction hearing loss. Patients of Genetics , 1994; 8: 98 – 103. Crouzon syndrome may occasionally present with 4. Wen MH, Hsiao HP. Growth hormone deficiency in a case 4,5 of Crouzon Syndrome with hydrocephalus. International hydrocephalus, seizures, and mental retardation. Journal of Pediatric Endocrinology 2010; 4: 101-07 Management of such patients requires 5. Gray T, Casey T.Ophthalmic Sequelae of Crouzon multidisciplinary approach. Treatment includes Syndrome. Ophthalmology 2001; 112(6):1129 – 34. measures to minimize intracranial pressure and secondary calvarial deformities. Surgical morcellation 81 .
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