|Year : 2023 | Volume
| Issue : 1 | Page : 207-208
Atypical presentation of Cowden syndrome
Neelam Pawar, Aparna Krishnan, Meenakshi Ravindran
Pediatric Ophthalmology and Squint Services, Aravind Eye Hospital and Post Graduate Institute of Ophthalmology, Tirunelveli, Tamil Nadu, India
|Date of Submission||16-Aug-2022|
|Date of Acceptance||18-Nov-2022|
|Date of Web Publication||20-Jan-2023|
Aravind Eye Hospital and Post Graduate Institute of Ophthalmology, Tirunelveli, S.N. High Road, Tirunelveli Junction - 627 001, Tamil Nadu
Source of Support: None, Conflict of Interest: None
Keywords: Cowden syndrome, Macrocephaly, Lobar holoprosencephaly
|How to cite this article:|
Pawar N, Krishnan A, Ravindran M. Atypical presentation of Cowden syndrome. Indian J Ophthalmol Case Rep 2023;3:207-8
Cowden syndrome is a genetic disorder with PTEN mutation, characterized by multiple tumor-like growths called hamartomas and with an increased risk of various cancers. Here we report a 6-year-old boy, born of a non-consanguineous marriage, with developmental delay, macrocephaly, and genetically proven as Cowden syndrome with autistic syndrome [Figure 1]. His mother was also known case of Cowden syndrome. His magnetic resonance imaging (MRI) brain showed absent falx cerebri in the anterior aspect and interdigitating gyri in the frontal region, suggestive of lobar holoprosencephaly. His systemic examination was within normal limits and there was no evidence of any hamartoma. His best corrected visual acuity was 6/6 in the right eye and 6/12 in the left eye with normal cycloplegic refraction. He had alternating exotropia of 18 PD at near and distance with left hypotropia and right eye dominance with left eye strabismic amblyopia. Ocular movements showed inferior oblique overaction of grade 3 in both eyes [Figure 2]. Fundus examination was normal in both eyes except for an extorsion of grade 2 in both eyes [Figure 3]a and [Figure 3]b. There was no evidence of retinal hamartomas.
|Figure 2: Nine gaze image showing bilateral inferior oblique over action in both eyes|
Click here to view
|Figure 3: Fundus image showing extorsion of grade 2 in right eye and left eye respectively|
Click here to view
| Discussion|| |
His genetic analysis revealed heterozygous missense variation in exon 5 of the PTEN gene that results in an amino acid substitution of Leucine for Histidine at codon 141. Cowden syndrome is a rare genetic disorder characterized by multiple non-cancerous hamartomas in different parts of the body, especially the skin, mouth, and gastrointestinal tract, and has an increased risk of cancer [Table 1]. In the literature, various cases have reported different ocular findings in Cowden syndrome including periocular cutaneous hamartoma, retinal hamartomas uveitis, and presenile cataracts., Our case is unique as there were no typical systemic and ocular manifestations of Cowden syndrome at present, except alternating exotropia and extorsion. As patients of Cowden syndrome are predisposed to a variety of cancers; so, regular screening of thyroid, renal ultrasonography, and dermatological examination are warranted.
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|| |
Schneider E, Eisengart J, Eng C, Moroi S. Ophthalmic phenotypes in cowden syndrome associated with germline PTEN mutations. Invest Ophthalmol Vis Sci 2010;51:3095.
Mansoor Q, Steel DH. Proliferative retinopathy in Cowden syndrome. BMJ Case Rep 2012;2012:bcr1120115273. doi: 10.1136/bcr. 11.2011.5273.
[Figure 1], [Figure 2], [Figure 3]