Bilateral congenital cataract in a child with fetal valproate syndrome

Sudarshan Khokhar; Saumya Kumar; Sai V Maddu; Deeksha Rani

doi:10.4103/ijo.IJO_2156_22

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CASE REPORT

Year : 2023 | Volume : 3 | Issue : 2 | Page : 319-321

Bilateral congenital cataract in a child with fetal valproate syndrome

Sudarshan Khokhar, Saumya Kumar, Sai V Maddu, Deeksha Rani
Dr. Rajendra Prasad Centre for Ophthalmic Sciences, AIIMS, New Delhi, India

Date of Submission	28-Aug-2022
Date of Acceptance	08-Feb-2023
Date of Web Publication	28-Apr-2023

Correspondence Address:
Saumya Kumar
Dr. Rajendra Prasad Centre for Ophthalmic Sciences, AIIMS, New Delhi
India

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijo.IJO_2156_22

Abstract

Fetal valproate syndrome (FVS) results from valproate intake during pregnancy. Children with FVS may have various ocular abnormalities such as refractive error, amblyopia, and strabismus. Congenital pediatric cataract has been reported earlier in two cases. We describe a case of FVS, who presented to us with a bilateral total white cataract. The child underwent bilateral lens aspiration + posterior capsulorhexis + anterior vitrectomy + intraocular lens (IOL) implantation under general anesthesia followed by refraction.

Keywords: Congenital cataract, fetal valproate syndrome, ultrasound biomicroscopy

How to cite this article:
Khokhar S, Kumar S, Maddu SV, Rani D. Bilateral congenital cataract in a child with fetal valproate syndrome. Indian J Ophthalmol Case Rep 2023;3:319-21

How to cite this URL:
Khokhar S, Kumar S, Maddu SV, Rani D. Bilateral congenital cataract in a child with fetal valproate syndrome. Indian J Ophthalmol Case Rep [serial online] 2023 [cited 2023 Jun 4];3:319-21. Available from: https://www.ijoreports.in/text.asp?2023/3/2/319/374943

Fetal valproate syndrome (FVS) is a rare disorder seen in children born to mothers who took valproate during pregnancy. Congenital cataract in cases of FVS has been reported in two incidences earlier. This is the first case report describing the management and morphology of congenital cataracts in the case of FVS.

Case Report

A full-term male infant (birth weight 3 kg) was referred to the lens clinic of our center by a pediatrician to get a detailed ophthalmic evaluation. The child was born by full-term normal vaginal delivery out of a nonconsanguineous marriage. The child required a neonatal intensive care unit (NICU) stay for 5 days and 2 days of oxygen therapy for respiratory distress syndrome. Parents noticed weight loss after 10 days of birth, for which they consulted a pediatrician. It was found that the mother is on antiepileptics [tab sodium valproate 700 mg BD for the past 3 years along with tab levetiracetam 500 mg BD, antenatally was advised on tab folic acid 5 mg/day]. The child has two older siblings, who are normal and were born before the usage of antiepileptics by the mother. At presentation, the child had a bilateral congenital cataract. On systemic evaluation, the child was found to have facial dysmorphic features like broad forehead, telecanthus, epicanthic folds, infraorbital grooves, broad nasal root, short nose, anteverted nares, broad or flat nasal tip, long philtrum, thin upper lip, thick lower lip [Figure 1]a. The child also had a limb defect in the right hand, i.e. difficulty in the complete extension of the index and ring finger [Figure 1]b left-sided inguinal hernia [Figure 1]c. Detailed systemic clinical evaluation is within normal limits with no added heart sounds. Ocular examination showed nystagmus movements and bilateral congenital cataracts. Total white cataract was noted in both eyes [Figure 2]. The child was planned for both eyes lens aspiration + posterior capsulorhexis + anterior vitrectomy + posterior chamber IOL implantation under general anesthesia. On examination under anaesthesia (EUA), the horizontal and vertical corneal diameters were found to be 10 and 10 mm, respectively, in both eyes. An amplitude scan on ultrasound revealed an axial length of 19.41 mm in the right eye and 19.58 mm in the left eye. Keratometry was 42.25/45.25 @26*/116* D (Diopters) in the right eye and 42.50/45.75 @63*/153*D in the left eye. Ultrasound biomicroscopy showed an intumescent cataractous lens with a predominantly thickened posterior cortical plate with an intact posterior capsule [Figure 2]. The child underwent both eye surgery (lens aspiration + posterior capsulorhexis + anterior vitrectomy + posterior chamber IOL implantation under general anesthesia). Intraoperative fundus evaluation revealed a normal size optic disc with decreased number of retinal vessels and dull foveal reflex [Figure 2] There were no difficulties noted in giving anesthesia.

Figure 1: Clinical picture showing (a) the facial features, (b) flexion deformity of fingers, (c) and left-side inguinal hernia

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Figure 2: Preoperative picture of (a) right eye, (b) left eye; ultrasound biomicroscopy of (c) right eye, (d) left eye; (e) postoperative picture of the right eye; and (f) intraoperative fundus picture of the right eye

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Refraction was done on postoperative day 1 and spectacles of power +8 D were prescribed in both eyes. On postoperative one month, the child could follow the light, and suture removal was done under general anesthesia.

Discussion

Anticonvulsants taken during pregnancy are associated with an increased risk of malformations and developmental delay. Sodium valproate is one such antiepileptic drug and is also used as a mood stabilizer. It is a salt of dipropyl acetic acid thought to act by inhibiting gamma-aminobutyric acid (GABA) metabolism or by a direct effect on mitochondria and thereby impairing cellular energy metabolism. Valproate crosses the placenta and is in higher concentration than maternal blood. Various congenital malformations are associated with valproate. The facial features of FVS include a broad forehead, high forehead, prominent metopic sutures, trigonocephaly, medial deficiency of eyebrow, epicanthic folds, infraorbital grooves, narrow palpebral fissures, low set ears, broad nasal root, short nose, anteverted nares, broad or flat nasal tip, long philtrum, smooth philtrum, thin upper lip, thick lower lip, and downturned mouth.^[1],[2],[3] The most frequent major congenital malformations are neural tube defects, congenital heart defects, oral clefts, genital abnormalities, and limb defects. Other less frequent abnormalities include inguinal and umbilical hernia, supernumerary nipple, postaxial polydactyly, bifid ribs, and preaxial defect of feet.^[2] Ocular abnormalities in children born to mothers taking anticonvulsants in pregnancy include optic nerve hypoplasia,^[4] hypertelorism, abnormal nasolacrimal apparatus, ptosis, strabismus, amblyopia,^{[5],[6],[7],[8],[9],[10]} and congenital glaucoma. More recently, Glover et al.^[11] undertook an observational study involving 46 children and adolescents with confirmed fetal anticonvulsant syndrome and described the ophthalmic features. A significantly high prevalence of potentially amblyogenic problems, including strabismus, astigmatism, and anisometropia, was observed. A bilateral congenital cataract was noted in one case. Another trial done by Aykan et al. showed that valproate exposure during pregnancy resulted in congenital cataracts in one case out of 139 patients.^[12] However, they did not describe the morphology and management of the cataract. This is the first report describing the morphology and management of congenital cataracts in FVS. Anesthesia and surgery were uneventful.

Conclusion

Anticonvulsants should be used cautiously during pregnancy. Cases with FVS can undergo surgery under general anesthesia without any difficulty in anesthesia. Patients with congenital cataracts should always be evaluated to rule out syndromic associations. Ultrasound biomicroscopy plays an important role in the management of pediatric cataract.

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 initial s 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.

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