Annals of Indian Academy of Neurology
  Users Online: 3437 Home | About the Journal | InstructionsCurrent Issue | Back IssuesLogin      Print this page Email this page  Small font size Default font size Increase font size

Table of Contents
Year : 2020  |  Volume : 23  |  Issue : 6  |  Page : 828-829

Kabuki syndrome: A rare clinical presentation

Department of Neurology, Alexis Hospital, Nagpur, Maharashtra, India

Date of Submission23-Oct-2019
Date of Acceptance15-Dec-2019
Date of Web Publication05-Jun-2020

Correspondence Address:
Dr. Abhishek D Wankar
Alexis Hospital, Koradi Road Mankapur, Nagpur - 440 030, Maharashtra
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aian.AIAN_541_19

Rights and Permissions


How to cite this article:
Wankar AD. Kabuki syndrome: A rare clinical presentation. Ann Indian Acad Neurol 2020;23:828-9

How to cite this URL:
Wankar AD. Kabuki syndrome: A rare clinical presentation. Ann Indian Acad Neurol [serial online] 2020 [cited 2021 Jan 18];23:828-9. Available from:


Kabuki makeup syndrome was described in Japanese children by Niikawa et al. based on the characteristic faces resembling kabuki play artist.[1] Diagnosis is based on the criteria laid down by International Consensus diagnostic criteria by Adam et al.[2] MLL-2 and KDM6A gene mutations have been identified in 70% of the patients.[3] Few case reports are available from India.

Sixteen-year-old male presented to the Department of Neurology with seizures for 2 years. The patient is a firstborn child born of a nonconsanguineous marriage. Perinatal and neonatal period was uneventful. No history of recurrent infections in childhood. Seizures were right upper limb focal with secondary generalization and are well controlled with carbamazepine for 6 months. No other significant past or personal history. The patient was poorly built with short stature. The patient was intact mentation. Bilateral lower motor neuron facial weakness with mild quadriparesis was noted. He had generalized hypotonia with no long tract signs. Other clinical features on general examination included long palpebral fissure with arched eyebrows, mild ptosis, and long eyelashes. He had prominent ears with depressed nasal tip and preauricular pits [Figure 1]a and [Figure 1]b. Oral examination showed him to have a high arched palate, abnormal dentition, and cleft palate [Figure 1]c. The fifth digit was short [Figure 1]d.
Figure 1: (a) Characteristic face, arched eyebrows, prominent ears, and mild ptosis. (b) Kyphosis, long eyelashes, depressed nasal tip, and preauricular pit. (c) High arched palate, cleft palate, and abnormal dentition. (d) Short fifth digit

Click here to view

His magnetic resonance imaging (MRI) of the brain and electroencephalogram (EEG) were normal while nerve conduction studies did not show any abnormality. Echocardiography showed him to have a small atrial septal defect (ASD).

Kabuki makeup syndrome (KMS) was described in Japanese children by Kuroki, Niikawa et al. in 1988.[1] The name comes from the makeup of actors in Japanese traditional play “Kabuki” to which the facial features resemble. A definitive diagnosis of KMS was made in the present case based on criteria laid down by International consensus diagnostic criteria by Adam et al.[2] The differential diagnosis in the present case includes Ehlers–Danlos syndrome, IRF6-Related disorders, and Hardikar syndrome. The prevalence of the syndrome in India is not known. However, numerous case reports are available from India about varied manifestations.[4] Schrander-Stumpel et al. reported 29 caucasian patients and reviewed 60 Japanese and 29 non-Japanese patients.[5] The study group reported similar clinical presentation in both groups. Neurological manifestations were present in over 80% of the non-Japanese patients.[5] Congenital cardiac defects are present in 58% of the patients. The present patient presented with seizures which is a rare clinical presentation (17%).[1] The identification of MLL-2 and KDM6A gene mutation emphasized the role of genetic studies in a suspected case of KMS.[3] However, in 30% of the cases, no gene mutation was identified.[2]

The present case, to our knowledge, is the first case reported from India presenting primarily with seizures and perhaps, the first case from central India.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

   References Top

Niikawa N, Kuroki Y, Kajii T, Matsuura N, Ishikiriyama S, Tonoki H, et al. Kabuki make-up (Niikawa–Kuroki) syndrome: A study of 62 patients. Am J Med Genet 1988;31:565-89.  Back to cited text no. 1
Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, et al. Kabuki syndrome: International consensus diagnostic criteria. J Med Genet 2019;56:89-95.  Back to cited text no. 2
Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, et al. MLL2 and KDM6A mutations in patients with Kabuki syndrome. Am J Med Genet A 2013;161:2234-43.  Back to cited text no. 3
Nasreen Ali, Agarwalla SK, Shabeer M, Naved M. Kabuki syndrome–A rare case report. Int J Adv Res 2017;5:1545-7.  Back to cited text no. 4
Schrander-Stumpel C, Meinecke P, Wilson G, Gillessen-Kaesbach G, Tinschert S, König R, et al. The Kabuki (Niikawa-Kuroki) syndrome: Further delineation of the phenotype in 29 non-Japanese patients. Eur J Pediatr 1994;153:438-45.  Back to cited text no. 5


  [Figure 1]


Print this article  Email this article


    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
    Article in PDF (594 KB)
    Citation Manager
    Access Statistics
    Reader Comments
    Email Alert *
    Add to My List *
* Registration required (free)  

    Article Figures

 Article Access Statistics
    PDF Downloaded75    
    Comments [Add]    

Recommend this journal