A 6-Month-Old Girl with Incontinentia Pigmenti Presenting as Status Epilepticus.
TLDR
Findings indicate that when a patient presents with status epilepticus, meticulous examination for skin lesions should be performed to determine whether the patient has a neurocutaneous syndrome, such as IP.Abstract:
Incontinentia pigmenti (IP) is an uncommon neurocutaneous syndrome. Its initial diagnosis is based primarily on characteristic papulovesicular skin lesions and early-onset neonatal seizures. In contrast to typical early neurologic manifestations, we encountered a normally developed 6-month-old female patient with hyperpigmented whorls on her body. Following respiratory syncytial virus infection and fever, the patient exhibited status epilepticus. Brain magnetic resonance imaging studies of the patient were compatible with the findings of acute encephalopathy in IP. Genetic analysis showed an 11.7 kb deletion within the gene encoding inhibitor of kappa-B kinase gamma. The patient was treated with anticonvulsants and subsequently reached expected developmental milestones after discharge. These findings indicate that when a patient presents with status epilepticus, meticulous examination for skin lesions should be performed to determine whether the patient has a neurocutaneous syndrome, such as IP.read more
Citations
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Journal ArticleDOI
Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology
Kang Nien How,Hazel Jing Yi Leong,Zacharias Aloysius Dwi Pramono,Kin Fon Leong,Zee Wei Lai,Wei Hsum Yap +5 more
TL;DR: The progress that has been made in IP is highlighted including the different types of mutations detected in various populations, current diagnostic strategies, IKBKG pathophysiology, genotype-phenotype correlation, and treatment strategies, which provide insights into understanding this rare mendelian disorder.
Journal ArticleDOI
Importance of extracutaneous organ involvement in determining the clinical severity and prognosis of incontinentia pigmenti caused by mutations in the IKBKG gene
Hwa Young Kim,Hyun Beom Song,Kyu Han Kim,Jeong Hun Kim,Jong Hee Chae,Man Jin Kim,Moon Woo Seong,Jung Min Ko +7 more
TL;DR: Kim et al. as mentioned in this paper examined the clinical characteristics observed in molecularly confirmed Korean colonia pigmenti (IP) patients and calculated the phenotypic score of extracutaneous manifestations to assess the disease severity.
References
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Journal ArticleDOI
Neurological findings in incontinentia pigmenti; a review
TL;DR: Clinical and brain imaging data of 45 IP patients with a neurological phenotype are reviewed, and several clinical presentations could be identified, comprising seizures, infantile encephalopathy, acute disseminated encephalomyelitis and ischemic stroke.
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Systematic review of central nervous system anomalies in incontinentia pigmenti
TL;DR: The frequency of CNS anomalies, similar to the frequency of retinal anomalies in IP patients, concurrent with their severity, supports their recognition in the list of IP minor criteria.
Journal ArticleDOI
Late recurrence of inflammatory first-stage lesions in incontinentia pigmenti: an unusual phenomenon and a fascinating pathologic mechanism
TL;DR: These IP recurrences suggest that mutated cells can persist a long time in the epidermis, and it is theorize that infections trigger the reactivations.
Journal ArticleDOI
Early infantile manifestations of incontinentia pigmenti mimicking acute encephalopathy
Shinpei Abe,Akihisa Okumura,Shin-ichiro Hamano,Manabu Tanaka,Takashi Shiihara,Koichi Aizaki,Tomohiko Tsuru,Yasuhisa Toribe,Hiroshi Arai,Toshiaki Shimizu +9 more
TL;DR: The encephalopathic manifestations in patients with incontinentia pigmenti were characterized by seizure clusters and reduced consciousness, albeit of relatively short duration.
Journal ArticleDOI
Clinical presentation and spectrum of neuroimaging findings in newborn infants with incontinentia pigmenti.
Aneta Soltirovska Salamon,Klaske D. Lichtenbelt,Frances M. Cowan,Alexandra Casaer,Jeroen Dudink,Jeroen Dudink,Anneleen Dereymaeker,Darja Paro-Panjan,Floris Groenendaal,Linda S. de Vries +9 more
TL;DR: To report on the neurological presentation and neuroimaging findings in newborn infants with incontinentia pigmenti, the objective was to establish a central nervous system “window of opportunity” for exploration of the role of emotion and language in the development of incontinence.