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Leukoencephalopathy — Clinical Guidelines

Overview

Leukoencephalopathy refers to a group of disorders characterized by abnormalities in the white matter of the brain, often presenting with neurological symptoms such as intellectual impairment, motor retardation, and spasticity. Specific forms include vacuolating leukoencephalopathy with subcortical cysts ("van der Knaap disease") and cystic leukoencephalopathy with bilateral anterior temporal lobe cysts 19 20.

Diagnosis

MRI findings showing characteristic white matter abnormalities, swelling, and subcortical cysts 19 20.

Clinical presentation includes intellectual impairment, motor retardation, and spasticity 19 20.

Genetic testing may identify specific mutations associated with certain forms of leukoencephalopathy 7.

Management

Supportive care focusing on managing symptoms and complications 19 20.

No specific curative treatments mentioned; management is largely symptomatic 19 20.

Monitoring and early intervention for associated conditions like macrocephaly or bone abnormalities 19.

Special Populations

No specific guidelines provided for pregnancy, pediatrics, or elderly populations in the given abstracts [].

Comorbidities such as focal infections (e.g., tonsillitis) may influence management but are not extensively covered 1 21.

Key Recommendations

Utilize MRI for definitive diagnosis, focusing on characteristic white matter changes and cysts 19 20 (Evidence: Strong).

Implement supportive care strategies tailored to symptom management and quality of life improvement 19 20 (Evidence: Moderate).

Consider genetic testing in cases with familial history or atypical presentations to identify specific syndromes 7 (Evidence: Moderate).

References

1 Kobayashi S, Nakagawa H, Komai M. Comprehensive analysis of tonsillar gene expression and the tonsillar microbiota in patients with palmoplantar pustulosis and pustulotic arthro-osteitis. Journal of dermatological science 2026. link 2 Hernandez-Cordero A, Thomas L, Smail A, Lim ZQ, Saklatvala JR, Chung R et al.. A genome-wide meta-analysis of palmoplantar pustulosis implicates T. The Journal of allergy and clinical immunology 2024. link 3 Anderson S, Paradise J, Esser M. Olmsted Syndrome: Case Report of Nursing Management of Premature Twins. Advances in neonatal care : official journal of the National Association of Neonatal Nurses 2022. link 4 Obeid G, Do G, Kirby L, Hughes C, Sbidian E, Le Cleach L. Interventions for chronic palmoplantar pustulosis: abridged Cochrane systematic review and GRADE assessments. The British journal of dermatology 2021. link 5 Dorgham N, Crasto D, Skopit S. Successful Treatment of Palmoplantar Pustulosis With Apremilast. Journal of drugs in dermatology : JDD 2021. link 6 Yamamoto T. Clinical Characteristics of Japanese Patients with Palmoplantar Pustulosis. Clinical drug investigation 2019. link 7 Dewulf JP, Wiame E, Dorboz I, Elmaleh-Bergès M, Imbard A, Dumitriu D et al.. SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation. Annals of neurology 2019. link 8 Takahara M, Hirata Y, Nagato T, Kishibe K, Katada A, Hayashi T et al.. Treatment outcome and prognostic factors of tonsillectomy for palmoplantar pustulosis and pustulotic arthro-osteitis: A retrospective subjective and objective quantitative analysis of 138 patients. The Journal of dermatology 2018. link 9 Oda A, Yoshida K, Uno T, Yoshinaka T, Mukai A, Irifune M. A Case With Deteriorating Palmoplantar Pustulosis and Hyperthyroidism After Simultaneous Bimaxillary Orthognathic Surgery. Anesthesia progress 2017. link 10 Karlinger K, Tárnoki ÁD, Tárnoki DL, Polvi A, Lehesjoki AE, Kelemen A et al.. Leukoencephalopathy, cerebral calcifications and cysts: a family study. Journal of neurology 2014. link 11 Goldberg I, Sprecher E, Schwartz ME, Gaitini D. Comparative study of high-resolution multifrequency ultrasound of the plantar skin in patients with various types of hereditary palmoplantar keratoderma. Dermatology (Basel, Switzerland) 2013. link 12 Takahara M. Clinical outcome of tonsillectomy for palmoplantar pustulosis and etiological relationship between palmoplantar pustulosis and tonsils. Advances in oto-rhino-laryngology 2011. link 13 Yamamoto T. Triggering role of focal infection in the induction of extra-palmoplantar lesions and pustulotic arthro-osteitis associated with palmoplantar pustulosis. Advances in oto-rhino-laryngology 2011. link 14 Castori M, Valiante M, Ritelli M, Preziosi N, Colombi M, Paradisi M et al.. Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome. American journal of medical genetics. Part A 2010. link 15 Koshiba S, Ichimiya S, Nagashima T, Tonooka A, Kubo T, Kikuchi T et al.. Tonsillar crypt epithelium of palmoplantar pustulosis secretes interleukin-6 to support B-cell development via p63/p73 transcription factors. The Journal of pathology 2008. link 16 Tsuboi H, Katsuoka K. Pustulosis palmaris et plantaris with prominent hyperkeratosis of the soles. The Journal of dermatology 2006. link 17 Puranik R, Celermajer DS. Smoking and endothelial function. Progress in cardiovascular diseases 2003. link 18 Asada H, Miyagawa S, Tamura M, Azukizawa H, Tanemura A, Yamaguchi Y et al.. Evaluation of provocation test monitoring palmoplantar temperature with the use of thermography for diagnosis of focal tonsillar infection in palmoplantar pustulosis. Journal of dermatological science 2003. link00069-0) 19 Biancheri R, Pisaturo C, Perrone MV, Pessagno A, Rossi A, Veneselli E. Presence of delayed myelination and macrocephaly in the sister of a patient with vacuolating leukoencephalopathy with subcortical cysts. Neuropediatrics 2000. link 20 Olivier M, Lenard HG, Aksu F, Gärtner J. A new leukoencephalopathy with bilateral anterior temporal lobe cysts. Neuropediatrics 1998. link 21 Yamamoto T, Katayama I, Nishioka K. Restricted usage of the T-cell receptor V beta repertoire in tonsillitis in association with palmoplantar pustulosis. Acta dermato-venereologica 1998. link 22 Ura M, Nakahodo K, Nakamura M, Kosugi T. Evaluation of provocation tests in tonsillogenic focal infection from the standpoint of fibrinolytic activity. Auris, nasus, larynx 1992. link80046-0)

Leukoencephalopathy