Destructive Encephalopathy in Incontinentia Pigmenti: A Case Report

Abstract

We report a 2-day-old neonate with incontinentia pigmenti combined with destructive encephalopathy. Generalized seizures developed soon after birth; characteristic papulovesicles and hyperpigmented linear streaks appeared several days later. The brain CT scan showed multiple low density areas with cortical atrophy and ventricular enlargement. Histopathological examination favored the diagnosis of incontinentia pigmenti. Although a series of microbiological examinations failed to identify any infectious agent, the patient was still treated vigorously with anticonvulsants, systemic antibiotics, and acyclovir from the beginning of hospitalization. However, the seizures persisted, and the patient died 26 days after birth. Our report suggests that incontinentia pigmenti with encephalopathy may have a fatal prognosis.

Clinical Study of 40 Cases of Incontinentia Pigmenti

“…Limited data concerning central nervous system imaging have been published. [37][38][39][40] In our series, MRI and computed tomographic scan results confirmed the findings of clinical examination. Cerebral atrophy, porencephalia, hemorrhage, and hypoplasia of the corpus callosum (2 cases in this study) have been also reported elsewhere.…”

“…Mental retardation, found in about 8% of patients with IP, could be a consequence of early and frequent convulsive episodes, mostly within the first year of life. 5,14,[35][36][37][38] Thus, the child should be watched carefully during this period. Limited data concerning central nervous system imaging have been published.…”

The Skin Is Not the Predominant Problem in Incontinentia Pigmenti

“…Nonetheless, standard diagnostic tests, such as arteriography, computed tomography, and magnetic resonance imaging, can reveal dramatic and disabling destruction that is often early in onset, rapid in evolution, and similar to that occurring in the retina (eg, closure of cerebral arteries and infarction). [10][11][12][13][14][15][16] Hemorrhagic encephalopathy and necrosis then occur, leading to widespread atrophy and cavitation. These events can develop within days or weeks of birth.…”

“…The diagnosis of retinal and cerebral involvement is straightforward, as long as the clinician is aware of these characteristic manifestations of this disease. 2,3,[8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23] Until precise pathogenetic pathways are established, it would be helpful to rename IP as "systemic neonatal eosinophilic vasculitis" or possibly "perinatal ischemia with eosinophilia ('PIE')" thereby calling attention to potential pharmacologic regimens that might not otherwise be contemplated. For such therapies to be maximally effective, they will have to be used shortly after birth, before irreversible and sometimes massive destruction of the retina and brain occurs.…”

Neurocutaneous Syndromes and Epilepsy—Issues in Diagnosis and Management

“…The underlying pathology to cerebral involvement has been unclear. One case is reported of a neonate presenting with seizures soon after birth in association with the characteristic vesicular rash and died on day 26; brain CT showed multiple low‐density areas (41). Furthermore, a neonate has been reported who underwent serial MRIs that demonstrated evolution of acute microvascular hemorrhagic infarcts in the periventricular white matter, suggesting that evolution of brain lesions may follow the evolution of the skin lesions (42).…”