* 본 콘텐츠는 가부키 증후군 환자를 진료하는 의료진을 위한 참고 자료입니다.
1. Joint laxity
Joint laxity is seen in virtually all patients.
- Refer for physiotherapy assessment.
- Refer for occupational therapy (OT) if affects fine motor skills.
2. Hip dislocation
Hip dislocation occurs with increased incidence secondary to joint laxity.
May develop even if neonatal hip check is normal.
- Monitor hips until walking.
- Refer to orthopaedic team if dislocation suspected.
Scoliosis may occur secondary to hypotonia and to vertebral malformations.
- Check the spine clinically on an annual basis.
- X-ray if there is clinical suspicion of scoliosis.
- Refer to orthopaedic surgeon if scoliosis is confirmed.
4. Patellar dislocation
Patellar dislocation is frequent in late childhood/ adolescence, particularly if there is co-existing obesity.
- Enquire re: symptoms and check position of patella on an annual basis.
- Refer to an orthopaedic surgeon if there are signs or symptoms of patellar dislocation.
5. Cervical spine instability
Specific problems with the cervical spine have not been reported in KS, however care should be taken in view of joint laxity.
- In individuals with marked joint laxity, avoid activities such as trampolining.
- Avoid use of bouncy chairs in infants.
- Make anaesthetist aware of possible cervical instability if anaesthetics are needed.
6. Flat feet
Flat feet is common in KS.
- Refer to physiotherapist for advice, and possible referral to orthotics.
Immunology & Skin
Check levels of T cells, T cell subsets and immunoglobulins at diagnosis.
- Normal immunisation schedule may be followed if levels are normal.
- If abnormal refer to paediatric immunologist for advice regarding any necessary immunisations.
- Refer to an immunologist if there are recurrent infections.
2. Respiratory tract infections
- Lower respiratory tract infections may have other causes apart from impaired immunity.
- These include aspiration pneumonia and anatomical variation of the bronchial tree.
3. Autoimmune disease
There is an increased risk of autoimmune disease, particularly: Idiopathic thrombocytopenic purpura, Autoimmune haemolytic anaemia, Vitiligo (benign condition, most likely with an autoimmune basis).
- Check full blood count (FBC) and thyroid function every two to three years.
- Enquire about presence of purpura or symptoms of anaemia.
- The presence of vitiligo may also indicate autoimmune disease.
- Refer to immunologist if autoimmune disease develops.
Excessive hair growth has been reported in around one fifth of patients.
- The main implications are cosmetic and for patients where this is troublesome a referral should be made for a dermatology opinion.
Small subcutaneous nodules, usually found on the scalp.
- Refer for surgical removal.
- These should not be confused with basal cell carcinomas.
6. Small/dystrophic nails
Commonly reported by parents. Similar to those seen in other conditions with in-utero lymphoedema.
- No specific treatment required but the nails should be kept short and trimmed.
Vision & Hearing
Infancy and Childhood
1. Hearing loss
Hearing loss has been documented in 40-45% of children with KS. In the majority, this is a conductive loss due to chronic otitis media but the risk of sensorineural hearing loss is increased and this possibility should also be explored as it is likely to be under-diagnosed. In many patients the hearing loss is mixed.
- Assess hearing at time of diagnosis, and annually throughout infancy and childhood, and adolescence if necessary.
- All children with hearing impairment should have audiology follow-up. If there is a sensori-neural component to the hearing loss an MRI scan of the the petrous temporal bone should be arranged as Mondini dysplasia of the inner ear may be present.
- Vestibular assessment is recommended in patients with vestibular symptoms, sensori-neural hearing loss or inner ear abnormalities.
- Treatment of hearing loss is by: a) amplification b) speech and language therapy c) cochlear implantation d) surgery for ossicular malformation e) in cases of Mondini dysplasia with periymphatic fistula surgery is indicated to prevent the development of menigitis.
2. Chronic otitis media (recurrent ear infections)
- Children with recurrent otitis media should have their hearing tested.
- Consider grommets or T-tubes for conductive hearing loss due to chronic otitis media.
3. Ophthalmic problems
Several have been reported in KS. These include structural anomalies such as Coloboma, Strabismus (occurs in 20~50%), Cranial nerve palsies and recurrent eye infections (most frequently associated with lacrimal duct anomalies).
- All children should have a formal ophthalmological assessment at the time of diagnosis.
- If abnormalities are detected they should be followed up by the ophthalmology team.
- Manage using standard treatment.
- Refer children with recurrent or severe infections or where there is obvious lacrimal duct atresia or stenosis to the ophthalmology or oculoplastics team for further management.
4. Failure to close eyelids during sleep
- Consult ophthalmologist. Drops may be needed to protect cornea.
Missing, fused or unusual-shaped teeth
Common in KS. Caries do not occur with greater frequency in KS.
- Ensure good dental hygiene.
- Most patients do not need any special management.
Dental hygiene and management
- Enrol patient in an individualised preventative oral healthcare programme from an early age.
- Routine follow up and regular dental examinations by a family dentist or local community dental services are essential.
- Parents report that using an electric toothbrush is easier and gives better results than manual brushing.
- Refer to a paediatric dentist for an assessment at the age of 8 years once secondary dentition present.
- Missing teeth/malocclusion/other dental anomalies: refer to a consultant in paediatric dentistry for multidisciplinary management.
Anaesthesia in patients with KS
Many children with Kabuki syndrome undergo surgery as some stage. There are very few reports of significant complications occurring with anaesthesia in KS but several points need to be taken into consideration.
- The anaesthetist should be made aware of the diagnosis of Kabuki syndrome and its associated medical problems including structural malformations, learning disability and hypotonia.
- Screen for congenital heart disease before surgery.
- Be aware of the possibility of difficult intubation because of structural anomalies (narrowing) of the airways, and manage accordingly.
- Care should be taken with positioning of the cervical spine because of associated joint laxity.
- Anaesthesia for cleft palate repair should be undertaken by an anaesthetist with specific experience working within a recognised cleft centre.