Early infantile manifestations of incontinentia pigmenti mimicking acute encephalopathy

Abe, Shinpei; Okumura, Akihisa; Hamano, Shin‐ichiro; Tanaka, Manabu; Shiihara, Takashi; Aizaki, Koichi; Tsuru, Tomohiko; Toribe, Yasuhisa; Arai, Hiroshi; Shimizu, Toshiaki

doi:10.1016/j.braindev.2010.04.002

Cited by 26 publications

(25 citation statements)

References 20 publications

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“…In almost all IP patients with CNS lesions, clinical neurological abnormalities, such as seizures, mental delay and hemiparesis, have been found [11], [14]. In particular, studies have reported that one-third of all IP patients are affected by seizures and mental retardation [15] as a consequence of neurological damage [16]. Moreover, the absence of structural CNS abnormalities does not exclude the possibility that brain functions are altered.…”

Section: Introductionmentioning

confidence: 99%

Incontinentia Pigmenti: Learning Disabilities Are a Fundamental Hallmark of the Disease

et al. 2014

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Studies suggest that genetic factors are associated with the etiology of learning disabilities. Incontinentia Pigmenti (IP, OMIM#308300), which is caused by mutations of the IKBKG/NEMO gene, is a rare X-linked genomic disorder (1∶10000/20∶000) that affects the neuroectodermal tissues. It always affects the skin and sometimes the hair, teeth, nails, eyes and central nervous system (CNS). Data from IP patients demonstrate the heterogeneity of the clinical phenotype; about 30% have CNS manifestations. This extreme variability suggests that IP patients might also have learning disabilities. However, no studies in the literature have evaluated the cognitive profile of IP patients. In fact, the learning disability may go unnoticed in general neurological analyses, which focus on major disabling manifestations of the CNS. Here, we investigated the neuropsychological outcomes of a selected group of IP-patients by focusing on learning disabilities. We enrolled 10 women with IP (7 without mental retardation and 3 with mild to severe mental retardation) whose clinical diagnosis had been confirmed by the presence of a recurrent deletion in the IKBKG/NEMO gene. The participants were recruited from the Italian patients' association (I.P.A.SS.I. Onlus). They were submitted to a cognitive assessment that included the Wechsler Adult Intelligence scale and a battery of tests examining reading, arithmetic and writing skills. We found that 7 patients had deficits in calculation/arithmetic reasoning and reading but not writing skills; the remaining 3 had severe to mild intellectual disabilities. Results of this comprehensive evaluation of the molecular and psychoneurological aspects of IP make it possible to place “learning disabilities” among the CNS manifestations of the disease and suggest that the IKBKG/NEMO gene is a genetic determinant of this CNS defect. Our findings indicate the importance of an appropriate psychoneurological evaluation of IP patients, which includes early assessment of learning abilities, to prevent the onset of this deficit.

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Section: Introductionmentioning

confidence: 99%

Incontinentia Pigmenti: Learning Disabilities Are a Fundamental Hallmark of the Disease

et al. 2014

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“…Notes and references [19][20][21][22][23][24][25][26][27][28][29][30] 1p36 deletion Distinctive facial features. Often have structural brain abnormalities, congenital heart defects, eye/ vision problems, hearing loss, skeletal anomalies, abnormalities of the external genitalia, and renal abnormalities.…”

Section: Recognizable Syndromesmentioning

confidence: 99%

“…25 Infantile spasms, peripheral oedema and optic atrophy. May have cerebellar and brainstem atrophy.…”

Section: Incontinentia Pigmentiimentioning

confidence: 99%

A genetic diagnostic approach to infantile epileptic encephalopathies

Kamien

Cardamone

Lawson

et al. 2012

Journal of Clinical Neuroscience

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“…Brain involvement is seen in 30-50% of affected infants, manifest in a previously well term newborn beginning between 1 and 6 weeks of age as an acute monophasic encephalopathy with seizures and altered mental status (12)(13)(14). The acute clinical syndrome is self-limited, evolving over 5-10 days, and then stabilizes.…”

Section: Incontinentia Pigmentimentioning

confidence: 99%

“…This diagnosis should be considered in women with a combination of late-stage cutaneous lesions along with hair, nails, dental lesions, and unexplained multiple fetal losses. MRI findings in infants and children have been described for both acute and chronic stages (12,14,15). Acutely there are usually multiple foci of T2 hyperintensity and restricted diffusion involving gray matter or white matter.…”

Section: Incontinentia Pigmentimentioning

confidence: 99%

Diagnosis and management of uncommon and genetic cerebrovascular diseases

Ichord¹

2012

Neurointerventional Management: Diagnosis and Treatment 2E

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Early infantile manifestations of incontinentia pigmenti mimicking acute encephalopathy

Cited by 26 publications

References 20 publications

Incontinentia Pigmenti: Learning Disabilities Are a Fundamental Hallmark of the Disease

Incontinentia Pigmenti: Learning Disabilities Are a Fundamental Hallmark of the Disease

A genetic diagnostic approach to infantile epileptic encephalopathies

Diagnosis and management of uncommon and genetic cerebrovascular diseases

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