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Hallermann-Streiff syndrome: a case report

SHEN, Min-qian; YUAN, Fei; LI, Lei; WANG, Li-yang

doi: 10.3760/cma.j.issn.0366-6999.2010.22.035
Case report
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SDC

Department of Ophthalmology, Zhongshan Hospital, Fudan University, Shanghai 200032, China (Shen MQ, Yuan F and Wang LY)

Department of Ophthalmology, Eye & Otolaryngology Hospital, Fudan University, Shanghai 200031, China (Li L)

Corresponding to: Prof. YUAN Fei, Department of Ophthalmology, Zhongshan Hospital, Fudan University, Shanghai 200032, China (Tel: 86–21–64041990 ext. 2684. Fax: 86–21–64041990 ext. 2671. Email: yuanfei07@yahoo.cn)

(Received)

Edited by PAN Cheng

Hallermann-Streiff syndrome (HSS) is a rare syndrome primarily affecting the head and face.1–3 As a result of many life-threatening complications, such as respiratory and cardiac difficulties,2 many patients die in infancy. Here, we report a 44-year-old patient with this syndrome who underwent phacoemulsification and piggyback intraocular lenses (IOLs) implantation in both eyes to improve visual function.

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CASE REPORT

A 44-year-old patient with diabetes mellitus for several years, diagnosed with HSS, presented to the ophthalmologist because of his blurred vision. Physical examination revealed craniofacial abnormalities with prominent parietal bones, a hypoplastic mandible, a beak-shaped nose and malformed teeth (Figure 1). The patient also presented with premature alopecia and dermatrophia of the face. The patient was mildly mentally retarded, but had a normal stature. Ophthalmic examination revealed ptosis, cataracts with posterior capsule opacification in both eyes and mild macular degeneration of the left eye. The intraocular pressure of both eyes was normal. The patient had high hypermetropia; the best-corrected distance visual acuities measured 0.3 (right) and 0.25 (left). Ultrasonography showed short eye axes (axial length, 20.32 mm (right) and 20.16 mm (left)) with normal anterior chamber depth (2.81 mm (right) and 2.84mm (left)), while the horizontal corneal diameter was 12.1 mm (right) and 11.7 mm (left). The patient was born after an uncomplicated full-term pregnancy of a non-consanguineous marriage, and the family history was negative. However, the patient's mother had taken tetracycline within the first three months of pregnancy.

Figure 1.

Figure 1.

The patient underwent a left phacoemulsification with implantation of piggyback intraocular lenses (IOLs) in the capsular bag (+17.0 and +17.0 dioptres AMO Sensar), followed by a right phacoemulsification with piggyback IOLs (+17.5 and 17.5 dioptres AMO Sensar) 2 weeks later (Figure 2). After 3 months post-operation, the best-corrected distance visual acuities measured 0.5 (right) and 0.6 (left).

Figure 2.

Figure 2.

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DISCUSSION

HSS was firstly described by Aubry in 1893. and completely described in 1948 by Hallermann and in 1950 by Streiff, and was then reviewed by Francois in 1958.1–3 “ Most HSS cases have been sporadic. The inheritance pattern of HSS is still debated and the etiology still questioned. An autosomal dominant (AD) inheritance with variable expression or a new mutation has been mentioned,1 but some reports have suggested the possibility of autosomal recessive inheritance.4–6 Nevertheless, our patient and his parents refused to have a genetic test. The potential causes of this syndrome include an asymmetric second bronchial arch defect that arises during the fifth or sixth gestational week,3 maternal viral infections, toxin exposure and paternal age.2Although the patient's mother had taken tetracycline within the first three months of pregnancy, we do not think that tetracycline could lead to HSS, as tetracycline is considered teratogenic, leading to brown teeth and abnormal long bone development. The main features of HSS are dyscephalia and a bird-like face, abnormal dentition, hypotrichosis, atrophy of the skin, congenital cataracts, bilateral microphthalmia and proportionate dwarfism.7 In addition, this syndrome also has many life-threatening manifestations, such as respiratory difficulties and cardiac defects.2 Fortunately, our patient did not have suffered from these life-threatening difficulties. Differential diagnoses include oculodentodigital dysplasia (ODDD), mandibulofacial dysostosis, cleidocranial dysostosis, progeria and other progeriod syndromes.

The treatment of HSS should focus on airway management, visual evaluation and therapeutic intervention, and craniofacial corrections. Without the life-threatening difficulties, our patient with microphthalmia underwent cataract surgery to improve his visual function. Considering that a single high-power IOL could not provide sufficient power, we adopted piggyback IOLs implantation in both eyes, which provided the patient good optical quality.

Piggyback IOLs implantation was first described by Gayton and Sanders in 1993 in a microphthalmic patient with cataract.8 Since then, many surgeons have adopted the technique to provide adequate pseudophakic optical correction for cases, where a single high power IOL was out of the range or near the upper limit of power inventories. The procedure has been used not only to treat extreme hyperopia after cataract surgery but also to benefit highly myopic patients,9 even to correct the postcataract surgery refractory errors.10,11 Until recently, most surgeons have been implanting both primary piggyback IOLs in the bag.12 Piggyback optical system induces less spherical aberration and provide superior image quality when the optical centres of the two IOLs are aligned, than a single high power IOL of the same power.13 However, it appears that a visually significant complication named interlenticular opacification (ILO), caused by Elschnig pearls or membrane formation, resulting in a loss of best corrected visual acuity and hyperopic shift.14 This may occur as a late complication even 3 years after implantation.12 Therefore, we haven't observed this complication in our patient yet.

HSS is a rare disorder whose prognosis is not optimistic. Thus, it is important for ophthalmologists to distinguish the features of HSS and to treat these patients promptly to save lives and improve the quality of life.

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REFERENCES

1. Cohen MM. Hallermann-Streiff syndrome: a review. Am J Med Genet 1991; 41: 488-499.
2. David LR, Finlon M, Genecov D, Argenta LC. Hallermann-Streiff syndrome: experience with 15 patients and review of the literature. J Craniofac Surg 1999; 10: 160-168.
3. Mirshekari A, Safar F. Hallermann-Streiff syndrome: a case review. Clin Exp Dermatol 2004; 29: 477-479.
4. François J. François' dyscephalic syndrome. Dev Ophthalmol 1983; 7: 13-35.
5. Dennis NR, Fairhurst J, Moore IE. Lethal syndrome of slender bones, intrauterine fractures, characteristics facial appearance, and cataracts, resembling Hallermann-Streiff syndrome in two sibs. Am J Med Genet 1995; 59: 517-520.
6. Hou JW. Hallermann-Streiff syndrome associated with small cerebellum, endocrinopathy and increased chromosomal breakage. Acta Paediatr 2003; 92: 869-871.
7. Francois J. A new syndrome; dyscephalia with bird face and dental anomalies, nanism, hypotrichosis, cutaneous atrophy, microphthalmia, and congenital cataract. AMA Arch Ophthalmol 1958; 60: 842-862.
8. Gayton JL, Sanders VN. Implanting two posterior chamber intraocular lenses in a case of microphthalmos. J Cataract Refract Surg 1993; 19: 776-777.
9. Gills JP. Piggyback minus-power lens implantation in keratoconus. J Cataract Refract Surg 1998; 24: 566-568.
10. Gayton JL, Sanders V, Van der Karr M, Raanan MG. Piggyback intraocular implants to correct pseudophakic refractive error. Ophthalmology 1999; 106: 56-59.
11. Gills JP, Fenzi RE. Minus power intraocular lenses to correct refractive error in myopic pseudophakes. J Cataract Refract Surg 1999; 25: 1205-1208.
12. Eleftheriadis H, Sciscio A, Ismail A, Hull CC, Liu C. Primary polypseudophakia for cataract surgery in hypermetropic eyes: refractive results and long term stability of the implants within the capsular bag. Br J Ophthalmol 2001; 85: 1198-1202.
13. Hull CC, Liu CSC, Sciscio A. Image quality in polypserdophakia for extremely short eyes. Br J Ophthalmol 1993; 83: 656-663.
14. Gayton JL, Apple DJ, Peng Q, Visessook N, Sanders V, Werner L, er al. Interlenticular opacification: clinicopathological correlation of a complication of posterior chamber piggyback intraocular lenses. J Cataract Refract Surg 2000; 26: 330-336.
Keywords:

Hallermann-Streiff syndrome; cataract; piggyback, intraocular lenses

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