From the Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
The authors have no financial or proprietary interest in the materials presented herein.
Address correspondence to Pradeep Sharma, MD, FAMS, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi 110029, India.
Kabuki syndrome is a mental retardation–malformation syndrome affecting multiple organ systems. The name is derived from the typical facies, which resembles the make-up worn in Japanese Kabuki theater. Although there are several clinical findings, the ocular findings affecting vision have been underreported. This report describes a child with alternate convergent strabismus who had features suggestive of Kabuki syndrome.
A 7-year-old girl presented with inward deviation of both eyes noted by the parents at approximately 6 months of age. She first presented to an ophthalmologist at 1 year of age, and refractive correction was prescribed. The patient was noncompliant with the glasses. She presented to the authors’ center at 5 years of age.
The patient had a normal delivery after a full-term pregnancy under medical supervision. The perinatal period was uneventful. The patient had a history of seizures occurring at 1 year of age, with normal findings on neuroimaging. The last seizure episode had occurred 3 years earlier, and the patient was not receiving antiepileptic therapy on presentation.
On examination, the patient was noted to have delayed motor, social, and speech milestones. She had sparse hair in the lateral part of the eyebrows, mild congenital ptosis with absence of the eyelid fold, euryblepharon, telecanthus palpebralis, prominent earlobes, depressed nasal bridge, irregularly placed and shaped dentition, and prominent finger fetal pad of fat with absent distal phalangeal crease of the middle and ring fingers in both hands. The rest of the findings on systemic examination were within normal limits. The unusual ocular features included esotropia and multiple nummular corneal opacities.
Visual acuity was recorded as 6/9 in the right eye and 6/36 in the left eye by Cardiff acuity cards. New refractive correction of +4.5 diopter spheres in each eye was prescribed. The patient was given occlusion therapy. After visual acuity of 6/9 in each eye with free alternation was achieved, surgery for convergent strabismus was recommended.
The patient underwent uneventful strabismus surgery with 4-mm bimedial recession under general anesthesia. Transient airway hyperreactivity with hyperventilation and tachycardia was noted by the anesthetists during both induction and reversal of anesthesia. Postsurgical recovery was uneventful. Postoperatively, the patient was orthotropic, although she still looked pseudoexotropic because of the prominent positive angle kappa.
Kabuki syndrome is a mental retardation–malformation syndrome affecting multiple organ systems, with a broad spectrum of neuromuscular dysfunction and mental ability. It was first reported independently by Kuroki et al.1 and Niikawa et al.,2 both in 1981, at two Japanese centers. Since the first report of this condition, more than 300 cases have been described worldwide.3 Outside of Japan, increasing numbers of patients have been recognized.3 The other names for this syndrome are “Niikawa-Kuroki syndrome” and “Kabuki make-up syndrome.” The resemblance of the characteristic facies in these patients to the makeup of the actors in the Japanese traditional Kabuki theater gave this syndrome its name.
Kabuki syndrome is a rare genetic disorder. The prevalence is estimated to be 1 in 32,000, with a sex ratio of 1:1. Cases have been reported across all ethnic groups. The etiology is believed to be heterogeneous and is unknown in most cases. In some patients, cytogenetic abnormality has been noted. An autosomal dominant mode of inheritance with a de novo mutation is also assumed.4 Some studies incriminate a ring chromosome X anomaly.5 The underlying cause of the multiple congenital anomalies and mental retardation has not been established (KS, Online Mendelian Inheritance in Man [OMIM] 147920).
The syndrome is clinically variable and is characterized by a diverse spectrum of signs. Features of the syndrome include long palpebral fissures, arched eyebrows, eversion of the lower lateral eyelids, long eyelashes, epicanthus, depressed nasal tip, short nasal septum, large and prominent ears and micrognathia, postnatal growth retardation, skeletal anomalies, dermatoglyphic abnormalities, and mild to moderate mental retardation (Figure). Additional features include uvulopharyngeal incompetence, dental abnormalities, hypotonia, joint laxity, congenital heart defects, urogenital anomalies, seizures, susceptibility to infection, and visual and hearing anomalies. Approximately 50% of affected children acquire hearing loss as a result of frequent ear infections. This can contribute to delayed speech development. Some children are helped with hearing aids; others use a combination of hearing aids and other magnification units, such as a phonic ear. Cleft palate may cause feeding problems and speech difficulties. Persistent fingertip fat pads, brachydactyly, and short fifth finger are also seen. For further information about this syndrome and for families of patients with this syndrome, there is a Kabuki syndrome network that can be accessed online: www.kabukisyndrome.com.
Figure. (A) Loss of Lateral Eyebrows, Mild Congenital Ptosis with Absence of Eyelid Fold, Euryblepharon, and Telecanthus Palpebralis. (B) Prominent Earlobes and Depressed Nasal Bridge. (C) Irregularly Placed and Shaped Dentition. (D) Prominent Finger Fetal Pad of Fat with Absent Distal Phalangeal Crease of the Ring Finger. (E) Multiple Nummular Corneal Opacities and Esotropia.
Turner et al.6 identified seven patients who fulfilled the classic clinical criteria for this syndrome and undertook a detailed clinical, ophthalmic, and molecular cytogenetic review. Three of the seven patients had previously undetected ocular anomalies, including myopia, ptosis, strabismus, and tilted discs. These findings highlight the importance of performing detailed ophthalmologic examination in patients with Kabuki syndrome for identification of such preventable causes of loss of vision. This report is the second to document esotropia and strabismus in Kabuki syndrome and the first to show corneal opacities. Both of these conditions can be sight-threatening and should be treated early in childhood.
- Kuroki Y, Suzuki Y, Chiyo H, Hata A, Matsui I. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr. 1981;99:570–573. doi:10.1016/S0022-3476(81)80256-9 [CrossRef]
- Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr. 1981;99:565–569. doi:10.1016/S0022-3476(81)80255-7 [CrossRef]
- Wessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ. Kabuki syndrome: a review study of three hundred patients. Clin Dysmorphol. 2002;11:95–102. doi:10.1097/00019605-200204000-00004 [CrossRef]
- Milunsky JM, Huang XL. Unmasking Kabuki syndrome: chromosome 8p22–8p23.1 duplication revealed by comparative genomic hybridization and BACFISH. Clin Genet. 2003;64:509–516. doi:10.1046/j.1399-0004.2003.00189.x [CrossRef]
- McGinniss MJ, Brown DH, Burke LW, Mascarello JT, Jones MC. Ring chromosome X in a child with manifestations of Kabuki syndrome. Am J Med Genet. 1997;70:37–42. doi:10.1002/(SICI)1096-8628(19970502)70:1<37::AID-AJMG8>3.0.CO;2-O [CrossRef]
- Turner C, Lachlan K, Amerasinghe N, et al. Kabuki syndrome: new ocular findings but no evidence of 8p22–p23.1 duplications in a clinically defined cohort. Eur J Hum Genet. 2005;13:716–720. doi:10.1038/sj.ejhg.5201377 [CrossRef]