Recurrent encephalomyelitis associated with incontinentia pigmenti

doi:10.1016/0887-8994(87)90088-9

Pediatric Neurology

Volume 3, Issue 3, May–June 1987, Pages 174-177

https://doi.org/10.1016/0887-8994(87)90088-9 Get rights and content

Abstract

A 4-year-old girl developed progressive obtundation following an upper respiratory tract illness. Physical, cerebrospinal fluid, computed tomographic, electroencephalographic, and evoked response findings were compatible with disseminated encephalomyelitis. Skin lesions indicative of incontinentia pigmenti were confirmed by biopsy. Transient loss of suppressor T cells was observed. Prior history revealed that at 6 months of age a similar episode of acute central nervous system deterioration had occurred. Recurrent encephalomyelitis does occur with incontinentia pigmenti. Transient loss of suppressor T cells suggests that this is an immune-mediated process.

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Cited by (12)

Neurological findings in incontinentia pigmenti; a review
2012, European Journal of Medical Genetics
Citation Excerpt :
CSF myelin basic protein was elevated in both patients, indicative for a CNS pathology characterized by demyelination. In one patient, nerve conduction defects were detected [21]. Brain MRI in one patient revealed scattered lesions, hyperintense on T2- and diffusion-weighed images, mainly in the subcortical and periventricular white matter.
Incontinentia Pigmenti is a rare X-linked multisystem disorder with well described and pathognomonic skin manifestations. Neurological manifestations are found in 30% of IP patients, forming one of the major causes of morbidity and mortality of the condition. In this review, clinical and brain imaging data of 45 IP patients with a neurological phenotype are reviewed. Several clinical presentations could be identified, comprising seizures, infantile encephalopathy, acute disseminated encephalomyelitis and ischemic stroke. Most neurological features presented during the neonatal period. No patients presented during adolescence or at adult age. Seizures of different type are reported in about 20% of the patients at young age and seem to correlate with the degree of cerebrovascular damage. Brain MRI findings include periventricular and subcortical white matter disease, haemorrhagic changes, corpus callosum hypoplasia, cerebral atrophy and cerebellar hypoplasia. Ocular findings comprise a range of retinal vascular changes and optic atrophy, but also developmental defects like microphthalmia and cataract. Most findings may reflect changes following brain injury. Both (ischemic) vascular and inflammatory components may play a role in the cerebral and ocular phenotype. However, a role of disturbed apoptosis during development may also be a contributing factor.
Early infantile manifestations of incontinentia pigmenti mimicking acute encephalopathy
2011, Brain and Development
Citation Excerpt :
Although additional seizures occurred in some patients as remote symptomatic epilepsy, none had a recurrence of the encephalopathic events. A recurrent encephalopathic event is likely uncommon, although recurrence of the CNS injury has rarely been reported [22,23]. These facts suggest that the encephalopathic events in infants with IP are self-limiting.
We retrospectively reviewed six patients with incontinentia pigmenti (IP) who had encephalopathic manifestations during early infancy.
We enrolled six patients who met the following criteria from the mailing list of the Annual Zao Conference: (1) diagnosis of IP; (2) encephalopathic manifestations with reduced consciousness and clusters of seizures by 6 months of age; and (3) no evidence of central nervous system infection or metabolic derangement.
The onset of the encephalopathic events was within the first 2 months of life in all but one patient. All had clusters of focal clonic seizures. The duration of seizures was typically 5 min. The seizures ceased within 5 days in all patients. Various degrees of reduced consciousness were observed in association with the frequent seizures. Diffusion-weighted imaging during the acute phase showed reduced water diffusion in the subcortical white matter, corpus callosum, basal ganglia, thalami, and internal capsule in two patients. Scattered subcortical white matter lesions were observed on fluid-attenuated inversion-recovery images in two patients.
The encephalopathic manifestations in patients with incontinentia pigmenti were characterized by seizure clusters and reduced consciousness, albeit of relatively short duration. Magnetic resonance imaging abnormalities were predominant in the subcortical areas in most patients.
Early neurological symptoms in patients with incontinentia pigmenti
2009, Anales de Pediatria
Acute disseminated encephalomyelitis in an infant with incontinentia pigmenti
2009, Brain and Development
We report the case of a female Japanese infant who was diagnosed with incontinentia pigmenti (IP) on the basis of the clinical and pathological findings of characteristic skin lesions and the detection of deletion in the nuclear factor-kappa B essential modulator gene at Xq28. The patient developed repetitive seizures at the age of 7 months when she was diagnosed with acute disseminated encephalomyelitis (ADEM), an inflammatory demyelinating disease of the central nervous system that often occurs after vaccination or infection. The causative infectious agent in this patient seemed to be Mycoplasma pneumoniae because of the increased titer of its serum antibody and the detection of its DNA in the initial cerebrospinal fluid sample. This patient showed significant improvement on receiving immunosuppressive therapy with corticosteroids. This is the second case report presenting an IP patient susceptible to ADEM, and therefore, ADEM should be considered early in the differential diagnosis of acute neurological illness for IP patients.
Incontinentia pigmenti: A review and update on the molecular basis of pathophysiology
2002, Journal of the American Academy of Dermatology
Incontinentia pigmenti is an uncommon X-linked dominant disorder, lethal in the majority of affected males in utero and variably expressed in females. Cutaneous manifestations are classically subdivided into 4 stages: vesicular, verrucous, hyperpigmented, and atrophic. Various hair and nail abnormalities, dental anomalies, and ophthalmologic and neurologic deficits are associated with the disorder. The gene for incontinentia pigmenti has been mapped to Xq28. Recently, mutations in the NEMO/IKKγ gene located at Xq28 have been found to cause expression of the disease. Knockout mice heterozygous for NEMO/IKKγ gene deficiency develop a clinical phenotype very similar to that of incontinentia pigmenti. NEMO/IKKγ is an essential component of the newly discovered nuclear factor κB (NF-κB) signaling pathway. When activated, NF-κB controls the expression of multiple genes, including cytokines and chemokines, and protects cells against apoptosis. The mechanism by which NEMO/IKKγ deficiency causes, via the NF-κB pathway, the phenotypical expression of the disease has recently been elucidated. In addition, the newest research findings on eosinophil recruitment through eotaxin release by activated keratinocytes are described in the review. Finally, anhidrotic ectodermal dysplasia with immunodeficiency, a disorder allelic to incontinentia pigmenti, is discussed together with implications on the current understanding of NF-κB function. (J Am Acad Dermatol 2002;47:169-87.) Learning objective: At the completion of this learning activity, participants will have a comprehensive and current understanding of incontinentia pigmenti, including its typical and uncommon clinical and histopathologic characteristics, diagnostic assessment, and current management strategies. Additionally, participants will gain the most current knowledge of the genetic and molecular basis of cutaneous pathomechanism.
Congenital and genetic disorders of hyperpigmentation
1995, Current Problems in Dermatology (United States)
Pigmented skin lesions are often the initial clue to the presence of an underlying disorder or syndrome. In evaluating such conditions, it is helpful to categorize the lesions according to their morphology and distribution. A diagnostic approach is provided, with the general topics consisting of melanocytic nevi, widespread or localized “spotty” pigmentation such as simple lentigines, café-au-lait macules, hyper-pigmentation along the lines of Blaschko, reticulate pigmentation, dermal melanocytosis, dyschromatosis, and other unique pigmentary patterns. Within this framework, we outline and review a variety of congenital and genetic disorders of hyperpigmentation, including giant congenital nevi and neurocutaneous melanosis, the multiple lentigines syndrome, Carney syndrome, and Peutz-Jehgers sywdrome, the neurofibromatoses, the McCune-Albright syndrome, incontinentia pigmenti and other conditions due to genetic mosaicism, dyskeratosis congenita and Fanconi's anemia, nevus of Ota, and many other conditions in which cutaneous pigmentation signals an underlying disorder. Diagnostic criteria and suggested clinical evaluation are provided when applicable.

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Case reportRecurrent encephalomyelitis associated with incontinentia pigmenti

Abstract

J Pediatr

Incontinentia pigmenti: A world statistical analysis

Arch Dermatol

Incontinentia pigmenti (Bloch-Sulzberger syndrome): A report of four additional cases

Am J Dis Child

Computed tomographic demonstration of brain changes in incontinentia pigmenti

Am J Dis Child

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

Eur J Pediatr

Regulation of the immune response-inducer and suppressor lymphocytes in human beings

N Engl J Med

Cerebral atrophy following ACTH therapy

J Comput Assist Tomogr

Zur frage der vererbung der incontinentia pigmenti Block-Siemens

Z Mensche Vererb Konstitutional

Half chromatid mutations may explain incontinentia in males

Am J Hum Genet

Case report
Recurrent encephalomyelitis associated with incontinentia pigmenti