A case report of neonatal incontinentia pigmenti complicated by severe cerebrovascular lesions in one of the male monozygotic twins

Abstract

Background: This article reports a case of neonatal incontinentia pigmenti onset in only one male monozygotic twin with characteristic skin lesions after birth followed by severe cerebrovascular lesions.

Case presentation: A male infant, the first of monozygotic twins, was born with multiple yellow pustules all over his body, repeated new herpes at different sites during the course of the disease, aggravated by fusion, warty crusts, and hyperpigmentation; biopsy pathology suggested eosinophilic spongiform edema of the skin. Peripheral blood eosinophils were significantly elevated, and brain magnetic resonance imaging revealed diffuse multiple cystic and lamellar abnormal signal areas in the left frontal and parietal lobes. On day 30, the infant showed neurological symptoms, such as poor response and apnea, and an emergency cranial computed tomography scan revealed abnormal changes in the left cerebral hemisphere and bilateral cerebellum. After admission, he was given a potassium permanganate bath and topical mupirocin for 1 month, and the skin abnormalities improved. He was treated with mechanical ventilation and vasoactive drugs for 2 days after the cerebrovascular accident, and died the same day after the parents chose hospice care. No deletion variants or point mutations were detected in subsequent genetic tests, and chromosomal copy number variation tests revealed different degrees of chimeric duplications and deletions in different regions of chromosomes Y and 3. The parents were healthy, and his twin brother had normal growth and development with no abnormalities at multiple follow-up visits.

Conclusion: Neonatal incontinentia pigmenti in only one male monozygotic twin is extremely rare and the genetic diagnosis is challenging. Awareness of the combined cerebrovascular lesions needs to be enhanced, and potential prevention and treatment methods need to be explored to improve the prognosis.

Keywords: IKBKG gene; cerebrovascular lesions; incontinentia pigmenti; monozygotic twins; neonatal.

Figure 1

Manifestations of skin lesions at different stages after birth. (A) Corn to mung bean sized yellow pustules, erythema on day 1; (B) the original herpes fused into patches, partially pigmented, alternating with the newly appearing herpes; and (C,D) warty crusting and hyperpigmentation.

Figure 2

(A) Pathological findings of the skin biopsy of the lesion at the right thigh: eosinophilic spongiform edema of the lesioned skin, eosinophilic microabscesses in the focal epidermis, liquefaction of the basal layer, and eosinophilic infiltration in the superficial dermis; (B) trends in peripheral blood eosinophil percentage during hospitalization.

Figure 3

Cranial imaging findings. Routine brain MRI on day 21. (A,B) Diffuse multiple cystic and lamellar abnormal signal areas in the left frontal and parietal lobes with low signal in T1-weighted imaging and high signal in T2-weighted imaging, with speckled diffusion restriction within the lesion. Urgent cranial CT on day 30. (C,D) Diffuse hypodensity in the left cerebral hemisphere and bilateral cerebellum, with a large patchy hypodense area in the left frontoparietal lobe with a CT value of 10–15 HU and multiple speckled hyperintensities within it, a widened left ventricle and additional patchy hyperintensities in the left cerebellar hemisphere.

Figure 4

CNV-Seq plus: 18.29 Mb mosaicism repeats in the Yp11.31q11.222 region (16%), 7.83 Mb mosaicism deletions in the Yq11.222q11.23 region (17%), 317.54 kb repeats in the Yp11.2p11.2 region (copy number: 2) and 3p26.3p26.3 region, with approximately 440.50 kb duplication (copy number 3).