Encephalitis in two members of a family with Incontinentia pigmenti (Bloch-Sulzberger syndrome)

Abstract

Abstract. The Bloch-Sulzberger syndrome of Incontinentia pigmenti (I. p.) was observed in 3 generations of one family. The grandmother and mother of 3 sisters with I.p. showed solely the typical skin lesions and no associated ectodermal abnormalities.At the age of 2 years the eldest girl with I.p. suffered from encephalitis after vaccination against smallpox. Four months later, having fully recovered, the patient suddenly deteriorated and developed generalized seizures and signs of increased intracranial pressure. She died 12h after right temporal decompression. Neuropathological examination of the brain revealed acute hemorrhagic encephalopathy involving predominantly the white matter and leading to massive edema. In addition, there were residual signs of a perivenous encephalitis in the central and subcortical white matter of the forebrain. Signs of malformation or developmental abnormalities were absent.The second girl with I.p. experienced an afebrile convulsion 3 weeks after the first injection of diphtheria and tetanus toxoid. At the age of 2~4 years, one week after an upper respiratory tract infection, she developed an encephalitis which resulted in severe neurological sequelae.The third girl with I. p. suffered from an afebrile convulsion without proof of encephalitis at the age of 4 months.The pathogenesis of the CNS disorders which are frequently associated with I. p. is not yet known, but the history of neurologic lesions in this family suggests that inflammatory processes may play an important role in their evolution.

Clinical presentation and spectrum of neuroimaging findings in newborn infants with incontinentia pigmenti

“…Approximately 70% to 80% of incontinentia pigmenti patients have the IKBKG exons 4 to 10 deletion. 16,27 Hennel et al 17 suggested that small-vessel occlusion is the primary cause of this condition and the inflammatory process is secondary; Siemes et al 29 supported this by demonstrating macroscopic evidence of fresh haemorrhagic necrosis, perivenous and capillary haemorrhage, and vascular congestion in white matter with peri-haemorrhagic inflammation thought secondary, and haemorrhagic necrosis was considered secondary to an ischaemic event. 26 Most incontinentia pigmenti patients carry loss-of-function mutations in IKBKG and thus lack nuclear factor-kappa B function in their mutant cells.…”

“…The findings of microvascular haemorrhagic infarcts in the periventricular white matter and associated vascular changes, seen on magnetic resonance angiography, of decreased branching and filling of intracerebral vessels, are indicative of a microangiopathic process. 16,27 Hennel et al 17 suggested that small-vessel occlusion is the primary cause of this condition and the inflammatory process is secondary; Siemes et al 29 supported this by demonstrating macroscopic evidence of fresh haemorrhagic necrosis, perivenous and capillary haemorrhage, and vascular congestion in white matter with peri-haemorrhagic inflammation thought secondary, and haemorrhagic necrosis was considered secondary to an ischaemic event. 4 In addition, the developmental CNS abnormalities are likely to be a consequence of an apoptotic process that already started in the antenatal period.…”

Incontinentia Pigmenti Associated with Cerebral Palsy and Cerebral Leukomalacia: A Case Report and Literature Review

“…There was good correlation between the MRI changes, neuronal dysplasia, and neuronal loss on histologic observation (13,14). The authors suggested that the changes on MRI coincided well with an infection/vaccinal process that led to encephalitis with variable expression and encephaloclastic effect on the central nervous system (CNS) (15–17).…”

The Skin Is Not the Predominant Problem in Incontinentia Pigmenti

“…[3][4][5] Histopathologic studies of the retina from patients with IP are rare. It is noteworthy, however, that perivascular eosinophil deposition has been observed in those few retinal specimens that are available, along with endothelial cell degeneration within retinal blood vess e l s ( u n p u b l i s h e d p e r s o n a l observations, 2003).…”