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Year : 2022  |  Volume : 15  |  Issue : 3  |  Page : 363-365  

Persistent hyperplastic primary vitreous in a child with incontinentia pigmenti and infantile spasms

1 Department of Ophthalmology, University College of Medical Sciences and Associated GTB Hospital, University of Delhi, New Delhi, India
2 Department of Ophthalmology, Lady Hardinge Medical College and Associated Hospitals, University of Delhi, Dr. RML Hospital and ABVIMS, New Delhi, India

Date of Submission20-Jun-2021
Date of Decision12-Aug-2021
Date of Acceptance30-Aug-2021
Date of Web Publication16-Sep-2022

Correspondence Address:
Zia Chaudhuri
Department of Ophthalmology, Lady Hardinge Medical College and Associated Hospitals, University of Delhi, Dr. RML Hospital and ABVIMS, New Delhi
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ojo.ojo_194_21

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Incontinentia pigmenti (IP) is a rare neurocutaneous syndrome of X-linked dominant inheritance (1:40000 births in the Caucasian population) which is usually lethal in males. It commonly presents with skin, central nervous system, and dental anomalies. Ophthalmic associations of IP include intra-ocular anomalies such as leukocoria, megalocornea, corneal edema, band keratopathy, bullous keratopathy, iridocorneal attachments, macular capillary dropout, peripheral arteriovenous shunts, retinal neovascularization, vitreous hemorrhage, preretinal fibrosis, traction retinal detachment as well as strabismus. We report an 18-month-old developmentally delayed female child with diagnosed IP and infantile spasms conforming to the west syndrome triad, who presented with left eye microphthalmia and persistent hyperplastic primary vitreous and discuss this rare ophthalmic presentation.

Keywords: Incontinentia pigmenti, infantile spasms, persistent hyperplastic primary vitreous, west syndrome

How to cite this article:
Madan S, Chaudhuri Z. Persistent hyperplastic primary vitreous in a child with incontinentia pigmenti and infantile spasms. Oman J Ophthalmol 2022;15:363-5

How to cite this URL:
Madan S, Chaudhuri Z. Persistent hyperplastic primary vitreous in a child with incontinentia pigmenti and infantile spasms. Oman J Ophthalmol [serial online] 2022 [cited 2022 Dec 2];15:363-5. Available from: https://www.ojoonline.org/text.asp?2022/15/3/0/356254

   Introduction Top

Incontinentia pigmenti (IP) or Bloch–Sulzberger syndrome is a neurocutaneous syndrome of X-linked dominant inheritance which is lethal in males. Genomic rearrangement of the gene for NEMO or nuclear factor kappa B essential modulator (IKBKG-IKK gamma) has been known to cause the disease.[1] Reported ophthalmic anomalies include strabismus, retrolental mass, megalocornea, corneal edema, band keratopathy, bullous keratopathy, and iridocorneal attachments.[2] Multiple retinovascular abnormalities in the form of macular capillary dropout, peripheral arteriovenous shunts, retinal neovascularization, retinal pigment epithelium, vitreous hemorrhage, preretinal fibrosis, and traction retinal detachment abnormalities are commonly observed.[3] Ischemic retina is a potent trigger for the secretion of vascular endothelial growth factor (VEGF) and this imbalance between the vasostimulatory and vasoinhibitory factors induced by VEGF in conditions such as IP results in the persistence of fetal hyaloid system or the persistent hyperplastic primary vitreous (PHPV).[4] West syndrome (WS) comprises a triad of infantile spasms with sudden cluster axial muscle contraction, a pathognomonic electroencephalogram (EEG) pattern of paroxysmal activity called hypsarrhythmia and developmental regression or delay, often associated with neuroradiological findings.[5]

It has been postulated that ischemic retina and imbalance between the vasostimulatory and vasoinhibitory factors induced by the VEGF in conditions such as IP result in persistence of the fetal hyaloid system and PHPV.[1] This case report emphasizes this relatively rare ocular manifestation in a girl child with IP with infantile spasms, conforming to the WS triad. Only anecdotal reports of IP with infantile spasms have been described, and none who simultaneously presented with PHPV.[2],[3],[4] This case, comprising IP with infantile spasms, conforming to the WS triad, and manifesting with PHPV, who was referred for an ophthalmic evaluation in view of unilateral leukocoria is thus unique.

   Case Report Top

An 18-month female child with diagnosed IP, born at term to unrelated parents, manifested with multiple erythematous nonvesicular papules over her upper limbs, legs, and on both the dorsal and ventral surfaces of the trunk on the 6th day after birth. The mother had a history of four abortions preceding the birth of this child. There were no live siblings.

The papules healed spontaneously with hyperpigmentation in 8 days without treatment. Subsequently, similar hyperpigmented lesions appeared in crops below the neck, ears, and few areas of the scalp after 2 months [Figure 1]a, [Figure 1]b, [Figure 1]c. The child remained developmentally delayed and at 7 months of age had recurrent episodes of epilepsy with flexor spasms. Central nervous system (CNS) examination revealed increased tone in bilateral upper and lower limbs with brisk deep tendon reflexes and intermittent scissoring. EEG revealed hypsarrhythmia. Magnetic resonance imaging (MRI) of the brain revealed the presence of a well-defined cystic area, showing suppression on fluid-attenuated inversion recovery and measuring 3.2 cm × 3.1 cm × 2.6 cm in the right frontal region, suggestive of encephalomalacia [Figure 2]a. Associated neuroradiological findings included mild white matter paucity with thinned-out corpus callosum. An axial MRI section at the level of the orbits revealed a small left eye with a retrolental stalk suggestive of PHPV [Figure 2]b. The child thus conformed to the triad of symptoms and signs incorporated under the WS umbrella, namely severe developmental delay and intellectual disability associated with neuroradiological signs, infantile spasms, and the hypsarrhythmia pattern on EEG.
Figure 1: 18-month-old female child presenting with multiple reticulate hyperpigmented lesions of incontinentia pigmenti on the abdomen (a), back (b), and lower limbs (c)

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Figure 2: Magnetic resonance imaging of the brain suggestive of cystic encephalomalacia. (a) Magnetic resonance imaging of the orbit consistent with features of persistent hyperplastic primary vitreous. (b) White arrow pointing to the persistent hyperplastic primary vitreous stalk). Clinical photograph of the patient showing left microphthalmos with leukocoria. (c) Ultrasound B-scan showing a dense retrolental membrane extending till the optic disc with simultaneous A-scan demonstrating echoes in the vitreous cavity (d)

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The child was started on syrup valproic acid (200 mg/5 ml) in a dose of 40 mg/kg/day to ease the flexor spasms. The seizure episodes stopped after treatment for 5 months and the child has been on follow-up since then, though the episodes have not recurred. Occasional skin pigmentation resolved spontaneously over the last 5 months. The child had mild-to-moderate hearing impairment based on brainstem-evoked response audiometry test values.[6]

This child was referred to the pediatric ophthalmology department of our institution from the pediatric dermatology department for further evaluation and management of unilateral left eye microphthalmia and leukocoria, which had been present since birth and had been diagnosed as PHPV. The indication for ophthalmic referral was thus routine. Ophthalmic evaluation revealed presence of the menace reflex. Nystagmoid eye movements were bilaterally present with full doll's eye movements in all gazes. The left eye with leukocoria was microphthalmic, with diameters of 9 mm in both horizontal and vertical dimensions [Figure 2]c. Ultrasound B-scan of the left eye demonstrated a dense tubular retrolental membrane, traversing from the posterior surface of the lens to the optic disc, which in a microphthalmic eye was suggestive of PHPV [Figure 2]d. The anteroposterior diameter of the left globe measured 16 mm, while that of the right globe was 18 mm. The right eye anterior segment and fundus examination was normal. The child primarily fixated with this eye. There was a refractive error of 3 diopters of hypermetropia present in the right eye, which was corrected with glasses. The child was kept under follow-up for regular sequential ophthalmic monitoring.

   Discussion Top

IP is a clinical diagnosis comprising progressive cutaneous lesions ranging from early erythematous vesicles and pustules (stage 1), verrucous spots (stage 2), linearly hyperpigmented lesions along Blaschko lines which are cutaneous lines of normal cell development tracing the embryonic cell migration (follow “V” shape over the back, “S” shaped whirls over the chest, and sides, and wavy shapes on the head-stage 3) and finally, scarring (stage 4).[7] All individuals may not experience all the stages. The diagnosis is confirmed histologically by the presence of eosinophilic spongiosis and apoptosis in ectodermal and neuro-ectodermal tissue. The eye and brain may be affected along with the skin as these are also ectodermal in origin.[1] Reported neurological manifestations in patients with IP include seizures, delayed psychomotor development, hemiplegia, hemiparesis, microcephaly, spasticity, mental retardation, and cerebellar ataxia.[7] Seizures are noted in around 37%–53% of patients with IP of which infantile spasms have been reported in approximately 8% of cases, based on a few isolated case series.[8],[9] The pathogenetic mechanism of the CNS lesions remains doubtful though inflammatory, infectious, and developmental processes have been suggested. MRI may reveal characteristic corpus callosum hypoplasia, focal cerebral and cerebellar damage, neuronal heterotopia, and small- and large-vessel occlusions.[10] Few isolated cases of PHPV with IP have been reported in the past wherein the underlying disease being IP was considered as the etiology for deficient or abnormal retinal vasculogenesis and persistence of fetal vasculature.[3] However, PHPV has not previously been reported in association with IP and WS, making this triad in the reported subject unique.

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.

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Conflicts of interest

There are no conflicts of interest.

   References Top

Fusco F, Bardaro T, Fimiani G, Mercadante V, Miano MG, Falco G, et al. Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappa B activation. Hum Mol Genet 2004;13:1763-73.  Back to cited text no. 1
Minić S, Obradović M, Kovacević I, Trpinac D. Ocular anomalies in incontinentia pigmenti: Literature review and meta-analysis. Srp Arh Celok Lek 2010;138:408-13.  Back to cited text no. 2
Fard AK, Goldberg MF. Persistence of fetal vasculature in the eyes of patients with incontinentia pigment. Arch Ophthalmol 1998;116:682-4.  Back to cited text no. 3
Wang X, Liang JH. Treatment of retinopathy of incontinentia pigmenti by anti-vascular endothelial growth factor. Zhonghua Yan Ke Za Zhi 2019;55:294-301.  Back to cited text no. 4
Cone TE Jr. On a peculiar form of infantile convulsions (hypsarrhythmia) as described in his own infant son by Dr. W.J. West in 1841. Pediatrics 1970;46:603.  Back to cited text no. 5
Khaimook W, Pantuyosyanyong D, Pitathawatchai P. Accuracy of otoacoustic emissions, and automated and diagnostic auditory brainstem responses, in high-risk infants. J Laryngol Otol 2019;133:363-7.  Back to cited text no. 6
Hadj-Rabia S, Froidevaux D, Bodak N, Hamel-Teillac D, Smahi A, Touil Y, et al. Clinical study of 40 cases of incontinentia pigmenti. Arch Dermatol 2003;139:1163-70.  Back to cited text no. 7
Narayanan MJ, Rangasamy S, Narayanan V. Incontinentia pigmenti (Bloch-Sulzberger syndrome). Handb Clin Neurol 2015;132:271-80.  Back to cited text no. 8
Aydin M, Hakan N, Demirel N, Deveci U, Zenciroglu A, Okumus N. Neurological involvement in incontinentia pigmenti. Eur J Pediatr 2014;173:547.  Back to cited text no. 9
Soltirovska Salamon A, Lichtenbelt K, Cowan FM, Casaer A, Dudink J, Dereymaeker A, et al. Clinical presentation and spectrum of neuroimaging findings in newborn infants with incontinentia pigmenti. Dev Med Child Neurol 2016;58:1076-84.  Back to cited text no. 10


  [Figure 1], [Figure 2]


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