【摘要】 A male patient, 39 years old, presented with symptoms of cataract, dwarf, progeria, polydactyly and genu valgum, after the extracapusular cataract extraction and intraocular lens implantation on both eyes, the visual acuity was improved and his fundus examination was normal. As the syndrome is different from any eye syndrome we have ever known, so it maybe a new one.
【关键词】 cataract; dwarf; polydactyly associated with genu valgum; new eye syndrome
INTRODUCTION
We report a case with symptoms of cataract, dwarf, progeria, polydactyly and genu valgum, as the syndrome didnt meet any eye syndrome we have ever known, so it maybe a new one.
CASE REPORT
A male patient, 39 years old, had blurred vision in both eyes for more than 10 years, and the condition got worse for 3 months. For his poor economic condition, he didnt come to hospital until the disease seriously affected his life. He had normal mental state, old looking, normal intelligence level, and the ability to handle his normal life. Physical examination: he had hypermicrosoma, 1.59 meters in height (Figure 1), and he looked like 50 years old though he was 39. He had irregular tooth alignment with protruding front teeth(Figure 2). His four limbs were short and associated with polydactyly(Figure 3). He had the symptoms of the skeletal system: spinal fusion and posterior scoliosis (Figure 4). He was confirmed without consanguineous marriage. Ophthalmology examination: the visual acuity of his right eye was light perception, and it couldnt be corrected. Light position check was all normal. Color vision was normal. The visual acuity of his left eye was counting fingers /20cm, and it couldnt be corrected, either. Light position and color vision were normal. Cornea was transparent in both eyes. Anterior chamber length was 2.5CT. Pupil size was 2.5mm, round with sensitive light reflection. Both lenses were gray with complete opacification (Figure 2). Vitreous and retina couldnt be checked. Btype ultrasound didnt find any change in vitreous. This patient received extracapusular cataract extraction and intraocular lens(ECCE+IOL) implantation on both eyes. After surgery, visual acuity of right eye was 0.5; left eye 0.6 (could not be corrected both). Fundus examination was normal. He was discharged from hospital after one week, and followed up for 4 months. No complication was observed. We considered this man got an amblyopia.
DISCUSSION
Clinical features (1) This patient was 39 years old, the cause of his cataract was unknown. His mother also had low visual acuity, so we consider that it is hereditary, but it is hard to prove because of his mothers death. (2)As he had the symptoms of four short limbs associated with polydactyly, spinal fusion and posterior scoliosis, irregular tooth alignment with protruding front teeth, and genu valgum, so we concluded that he had multiple bone deformity. (3) He had a short stature, 1.59 meters in height. (4)He had an old looking when he was 39 years old, which indicated that he had progeria.
Difference between this syndrome and others The syndrome in this patient had the combined manifestations of cataract, progeria, dwarf and bone deformity, we consider it an eyerelated syndrome. When we compared it with those syndromes we have known, there are some similarities, but they are not exactly the same. (1) Difference from Lanzieri syndrome: the cause of Lanzieri syndrome cause is still not clear. Although it also has dwarf, irregular tooth alignment, it still has congenital missing of fibula, tarsal, plantar unit, and hirsutism[1]. These were not found in this case. In eyeball, the ocular manifestations of Lanzieri syndrome have not only cataract, but also the defect of iris, choroid and optic nerve. These also did not appear in our case. Polydactyly was observed in this case while it never appears in Lanzieri syndrome. (2) Difference from Gansslen syndrome: the symptoms of Gansslen syndrome include dwarf, polydactyly
Figure 1 Dwarf.
Figure 2 Progeria and irregular tooth alignment.
Figure 3 Four limbs were short with polydactyly.
Figure 4 Spinal fusion and spinal scoliosis.
and cataract, etc, while its cataract is congenital[1]. Besides, Gansslen syndrome has familial hemolytic jaundice, hepatosplenomegaly and oxycephaly. It still has small eyeball, the defect of iris and choroid, pupil displacement. These did not show in our case. (3) Difference from Ellisvan Creveld syndrome: Ellisvan Creveld syndrome is autosomal recessive, occurred in 25% descendants of consanguineous marriage[2, 3]. Its ocular manifestations include cataract, iris defect, and the physical symptoms include dwarf, polydactyly, genu valgum and low mental development. In our case, iris defect was not found, and the patients intelligence level was normal.
Is it a new syndrome? Our case is different from those syndromes we have mentioned, as progeria never appears in Lanzieri syndrome, Gansslen syndrome or Ellisvan Creveld syndrome. So we regard it as a new syndrome type, combined with dwarf, progeria, polydactyly, genu valgum and cataract. After the ECCE+IOL implantation on both eyes, the visual acuity of right eye was improved to 0.5, and left eye 0.6. No change was observed in fundus.
【参考文献】
1 Zhao XQ, Zhang J. Eye Syndrome. Beijing：China Radio and TV Press 1995：105，154
2 Ellis RWB, van Creveld S. A syndrome characterized by polydactyly, chondrodysplasia and congenital morbuscordis. Arch Dis Child 1940;15:65
3 Lin SC, Zhao XQ . Common Eye Syndrome. Beijing：Peoples Medical Publishing House 2008：180181 |
