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 Table of Contents  
CASE REPORT
Year : 2022  |  Volume : 34  |  Issue : 2  |  Page : 171-173

Identifying the white forelock for early visual stimulation and speech therapy among X-men (van der Hoeve-Halbertsma-Waardenburg syndrome) in ophthalmology


1 Medical Officer, Department of Cataract and Refractive Surgery, Mahathma Eye Hospital Private Limited, Tiruchirappalli, Tamil Nadu, India
2 Medical Officer, Department of Glaucoma and Research, Mahathma Eye Hospital Private Limited, Tiruchirappalli, Tamil Nadu, India
3 Chief Medical Officer, Mahathma Eye Hospital Private Limited, Tiruchirappalli, Tamil Nadu, India
4 Head of the Department of Cataract and Refractive Surgery, Mahathma Eye Hospital Private Limited, Tiruchirappalli, Tamil Nadu, India

Date of Submission09-Feb-2021
Date of Acceptance01-Apr-2021
Date of Web Publication30-Aug-2022

Correspondence Address:
Dr. Prasanna Venkatesh Ramesh
Department of Glaucoma and Research, Mahathma Eye Hospital Private Limited, No. 6, Tennur, Seshapuram, Tiruchirappalli . 620 017, Tamil Nadu
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/kjo.kjo_40_21

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  Abstract 


A day-old male neonate presented with white forelock on his forehead. On evaluation, the neonate had telecanthus, broad nasal bridge, and surprisingly homochromic but hypochromic irides bilaterally. The W-index was 2.38 which was an indication of Type 1 Waardenburg syndrome (WS) with dilated fundus evaluation revealing pigmentary deficit in the retina depicting a orangish hue. The corneal diameter was 9 mm in both eyes. Both the external auditory meatus and external ears appeared normal. The parents who had a history of second-degree consanguineous marriage had visual acuity of 20/20 with normal dark brown irides and normal fundi. Genetic counseling, visual rehabilitation, and auditory evaluation to rule out sensory neural hearing loss were stressed upon for good quality of life, which is mandatory among neonates diagnosed with van der Hoeve-Halbertsma-Waardenburg syndrome.

Keywords: Van der Hoeve-Halbertsma-Waardenburg syndrome, White forelock, X-men


How to cite this article:
Ramesh SV, Ramesh PV, Rajasekaran R, Ramesh MK. Identifying the white forelock for early visual stimulation and speech therapy among X-men (van der Hoeve-Halbertsma-Waardenburg syndrome) in ophthalmology. Kerala J Ophthalmol 2022;34:171-3

How to cite this URL:
Ramesh SV, Ramesh PV, Rajasekaran R, Ramesh MK. Identifying the white forelock for early visual stimulation and speech therapy among X-men (van der Hoeve-Halbertsma-Waardenburg syndrome) in ophthalmology. Kerala J Ophthalmol [serial online] 2022 [cited 2022 Sep 29];34:171-3. Available from: http://www.kjophthal.com/text.asp?2022/34/2/171/355037




  Introduction Top


 van der Hoeve-Halbertsma-Waardenburg syndrome More Details is a rare congenital disorder. It is seen in 1/42,000 of the population.[1] Almost all patients present with sensorineural hearing loss.[1] This syndrome is secondary to the absence of melanocytes in the skin, hair, eyes, and the stratified epithelium lining the upper part of the ligamentum spirale cochleae. It is a consequence of abnormal migration of cells derived from the neural crest.[2]


  Case Report Top


In this report, we report a day-old male neonate who presented with white forelock on his forehead. On evaluation, the neonate had telecanthus, broad nasal bridge, and surprisingly homochromic but hypochromic irides bilaterally [Figure 1]. The neonate had dystopia canthorum (i.e.,) lateral displacement of inner canthus which met the clinical criteria to diagnose this condition, which was calculated using the W-index as shown in [Figure 2]. The W-index was 2.38 in this child which indicated towards Type I Waardenburg syndrome (WS).[3] Dilated fundus evaluation revealed pigmentary deficit in both the retina with orangish hue [Figure 3]. The corneal diameter was nine millimetres in both eyes. Both the external auditory meatus and external ears appeared normal [Figure 4].
Figure 1: (a) White forelock on the forehead, with telecanthus and broad nasal bridge. (b) Homochromic but hypochromic irides bilaterally

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Figure 2: Diagnosis of dystopia canthorum by calculating W-index. W-index = X + Y + a/b; where X = (2a-0.2119c-3.909)/c; Y = (2a-0.22479b-3.909)/b; a: internal inter-canthal distance; b: inter-pupillary distance; c: external inter-canthal distance

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Figure 3: Smart phone fundus photograph done with indirect ophthalmoscope revealed pigmentary deficit in the retina with orangish hue in both eyes

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Figure 4: (a and b) External ear examination showing normal anatomy

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The parents had history of second-degree consanguinity, with their first pregnancy dating 5 years back, culminating with a full term normal vaginal delivery, with the child expiring due to jaundice soon after birth during the neonatal period. Unfortunately, during the second pregnancy, the mother underwent spontaneous abortion in the 3rd month of gestation. This brought to light the possibility that her fetus might have had congenital anomalies which were known to induce spontaneous abortions.[4] This pregnancy (third pregnancy) was uneventful with full term, normal vaginal delivery. General examination revealed normal extremities with no pigmentary changes on the body. Bowel habits were normal with no signs of constipation, ruling out Hirschsprung disease. Detailed pedigree charting was done but none of the family members had any such features according to their knowledge.

Both parents were examined and had visual acuity of 20/20 with normal dark brown irides and normal fundi. This further tilted in favor of an autosomal recessive inheritance pattern or de novo mutation. Genetic counseling was done and need for visual rehabilitation was explained. Auditory evaluation by means of brain evoked response audiometry to rule out sensory neural hearing loss which is mandatory for neonates, so that speech therapy and hearing aids can be provided during the early period of life for good quality of life was carried out.


  Discussion Top


Types of Waardenburg syndrome

WS can be classified into four types. Type 1 and Type 2 can be clinically differentiated based on the major and minor criteria or by the presence or absence of dystopia canthorum. WS Type 2 does not have dystopia canthorum. For definition of WS Type 1, it needs to fulfil two major or one major and two minor criteria as listed below:

Major criteria

  1. Dystopia canthorum: W-index needs to be >1.95; diagnosis of dystopia canthorum was arrived by calculating W-index; where W-index = X + Y + a/b ; where X = (2a − 0.2119c − 3.909)/c; Y = (2a − 0.22479b − 3.909)/b; a: internal inter-canthal distance; b: inter-pupillary distance; c: external inter-canthal distance
  2. Pigmentation abnormalities: White forelock, depigmentation of eyebrows, eyelashes or body hair, and heterochromia of irides
  3. Neurosensory cochlear deafness
  4. Autosomal dominant family history.


Minor criteria

  1. Cutaneous depigmented zones
  2. Synophrys
  3. Prominent nasal root
  4. Hypoplastic alae nasi
  5. Premature graying of hair.


WS Type 3 (Klein-WS) is a very rare subtype, characterized by associated musculoskeletal abnormalities such as muscle hypoplasia, flexion contractures, or syndactyly (fused digits). WS Type 4 is also known as Waardenburg-Shah syndrome which is a combination of WS, Hirschsprung disease and congenital aganglionic megacolon.[3]

Although multiple genetic mutations have been implicated in this syndrome, paired box gene 3 has been reported mostly in WS1 and WS3 patients. Microphthalmia associated transcription factor (MITF) gene is seen in WS2. Endothelin 3 (EDN 3), endothelin receptor type B (EDNRB) or SRY-sex determining region Y-Box 10 (SOX10) mutations have been reported in WS4.[5] However, we could not perform genetic analysis in this case due to logistic reasons, but it seems to be a de novo mutation because the patient has healthy parents and family members. Still, this patient was diagnosed with WS due to the fulfilment of two major criteria.


  Conclusion Top


To conclude, diagnosing WS very early in the neonatal period alone is not enough, the need for genetic counseling, visual rehabilitation, and auditory evaluation for good quality of life should be stressed upon.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for his 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

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. Review and update of mutations causing Waardenburg syndrome. Hum Mutat 2010;31:391-406.  Back to cited text no. 1
    
2.
Faiver L, Vekemans M. Waardenburg Syndrome 1. Orphanet Encyclopedia; April, 2005.  Back to cited text no. 2
    
3.
Tabor D. Waardenburg Syndrome. DermNet NZIn; 2015.  Back to cited text no. 3
    
4.
Sugiura-Ogasawara M, Ozaki Y, Katano K, Suzumori N, Kitaori T, Mizutani E. Abnormal embryonic karyotype is the most frequent cause of recurrent miscarriage. Hum Reprod Oxf Engl 2012;27:2297-303.  Back to cited text no. 4
    
5.
Yang S, Cao J, Zhang R, Liu L, Liu X, Zhang X, et al. Nonsense mutations in the PAX3 gene cause Waardenburg syndrome type 1 in two Chinese patients. Chin Med J 2007;120:46-9.  Back to cited text no. 5
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]



 

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