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Hemimegalencephaly, hemihypertrophy and vascular lesions

  • Medical Genetics
  • Original Paper
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Abstract

We report on two children with hemihypertrophy and ipsilateral hemimegalencephaly. Vascular lesions in one were consistent with a diagnosis of the Klippel-Trénaunay-Weber Syndrome. MRI performed in the first days of life and at 1 month of age revealed the presence of the neuronal anomaly.

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Abbreviations

KTWS :

Klippel-Trénaunay-Weber syndrome

References

  1. Anlar B, Yalaz K, Erzen C (1988) Klippel-Trenaunay-Weber syndrome: A case with cerebral and cerebellar hemihypertrophy. Neuroradiology 30: 360

    Article  PubMed  Google Scholar 

  2. Bignami A, Palladini G, Zappella M (1968) Unilateral megalencephaly with nerve cell hypertrophy. An anatomical and quantitative histochemical study. Brain Res 9:103–114

    Article  PubMed  Google Scholar 

  3. Burke JP, West NFJ, Strachan IM (1991) Congenital nystagmus, anisomyopia, and hemimegalencephaly in the Klippel-Trenaunay-Weber syndrome. J Pediatr Ophthalmol Strabismus 28:41–44

    PubMed  Google Scholar 

  4. Calvani M, Lombardo C, Madonna V, Naccarato A, Rosselli Del Turco C (1978) Megaencefalia unilaterale, lipomatosi, sindrome di Klippel-Trenaunay-Parkes-Weber, emangiomatosi diffusa e malformazioni multiple nel neonato. Minerva Pediatr 30:733–740

    PubMed  Google Scholar 

  5. Cavenagh EC, Hart BL, Rose D (1993) Association of Linear Sebaceous Nevus Syndrome and Unilateral Megalencephaly. AJNR 14:405–408

    PubMed  Google Scholar 

  6. Cheruy M, Heller FR (1987) An unusual variant of Klippel-Trenaunay syndrome association of total hemihypertrophy, hemimegalencephaly and bilateral extremity enlargement (case report). Acta Chir Belg 87:73–76

    PubMed  Google Scholar 

  7. Cusmai R, Curatolo P, Mangano S, Cheminal R, Echenne B (1990) Hemimegalencephaly and Neurofibromatosis. Neuropediatrics 21:179–182

    PubMed  Google Scholar 

  8. Gorlin RJ, Meskin LH (1962) Congenital hemihypertrophy. Review of the literature and report of a case with special emphasis on oral manifestations. J Pediatr 61:870–879

    PubMed  Google Scholar 

  9. Happle R (1986) Cutaneous manifestation of lethal genes. Hum Genet 72:280

    Article  PubMed  Google Scholar 

  10. Klippel M, Trenaunay P (1900) Du naevus variqueux osteohypertrophique. Arch Gen Med 185:641–672

    Google Scholar 

  11. Matsubara O, Tanaka M, Ida T, Okeda R (1983) Hemimegalencephaly with hemihypertrophy (Klippel-Trénaunay-Weber syndrome). Virchows Arch A 400:155–162

    Article  Google Scholar 

  12. Mc Mullin GP, Super M, Clarke MA (1993) Cranial hemihypertrophy with ipsilateral naevoid streaks, intellectual handicap and epilepsy: a report of two cases. Clin Genet 44:249–253

    PubMed  Google Scholar 

  13. Parkes-Weber F (1907) Angioma formation in connection with hypertrophy of limbs and hemihypertrophy. Br J Dermatol 19:231–235

    Google Scholar 

  14. Pavone L, Curatolo P, Rizzo R, Micali G, Incorpora G, Garg BP, Dunn DW, Dobyns WB (1991) Epidermal nevus syndrome: A neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy. Neurology 41: 266–271

    PubMed  Google Scholar 

  15. Persico A, Battistella PA, Bertoli P, Drigo P (1988) Unilateral Hypomelanosis of Ito with Hemimegalencephaly. Acta Paediatr Scand 77: 446–447

    PubMed  Google Scholar 

  16. Rizzo R, Pavone L, Sorge G, Parano E, Baraitser M (1990) Proteus Syndrome: report of a case with severe brain impairment and fatal course. J Med Genet 27:399–402

    PubMed  Google Scholar 

  17. Robain O, Floquet CH, Heldt N, Rozenberg F (1988) Hemimegalencephaly: A clinicopathological study of four cases. Neuropathol Appl Neurobiol 14:125–135

    PubMed  Google Scholar 

  18. Rugel SJ (1946) Congenital Hemihypertrophy. Report of a case with Postmortem observations. Am J Dis Child 75:530–536

    Google Scholar 

  19. Sakuta R, Aikawa H, Takashima S, Ryo S (1991) Epidermal Nevus Syndrome with Hemimegalencephaly: neuropathological study. Brain Dev 13: 260–265

    PubMed  Google Scholar 

  20. Trounce JQ, Rutter N, Mellor DH (1991) Hemimegalencephaly: Diagnosis and treatment. Dev Med Child Neurol 33:257–266

    PubMed  Google Scholar 

  21. Vles JSH, Degraeuwe P, De Cock P, Casaer P (1985) Neuroradiological findings in Jadassohn nevus phakomatosis: a report of four cases. Eur J Pediatr 144:290–294

    Article  PubMed  Google Scholar 

  22. Wiedermann HR, Burgio GR, Aldenhoff P, Kunze J, Kaufmann HJ, Shirg E (1983) The Proteus Syndrome. Partial gigantism of the hands and feet, nevi, hemihypertrophy, cutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections. Eur J Pediatr 140:5–12

    Article  PubMed  Google Scholar 

  23. Wiedermann HR, Burgio GR (1986) Encephalocraniocutaneous lipomatosis and Proteus syndrome. Am J Med Genet 25:403–404

    Article  PubMed  Google Scholar 

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Authors and Affiliations

  1. Paediatric Division, S. Pertini Hospital, Roma, Italy

    A. Cristaldi, G. Antoniazzi, A. Andreuzzi & G. Morselli

  2. Section of Neurophysiology, Bambino Gesù Children's Hospital, Roma, Italy

    F. Vigevano & M. di Capua

  3. Radiology Division, S. Pertini Hospital, Roma, Italy

    F. Iorio

  4. Section of Radiology, Bambino Gesù Children's Hospital, Roma, Italy

    G. Fariello

  5. Unit of CT-MRI, Department of Internal Medicine, “La Sapienza” University, Roma, Italy

    G. Trasimeni & G. F. Gualdi

  6. Department of Paediatrics, “La Sapienza” University, Viale Regina Elena 324, I-00161, Roma, Italy

    P. Iannetti

Authors
  1. A. Cristaldi
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  2. F. Vigevano
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  3. G. Antoniazzi
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  4. M. di Capua
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  5. A. Andreuzzi
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  6. G. Morselli
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  7. F. Iorio
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  8. G. Fariello
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  9. G. Trasimeni
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  10. G. F. Gualdi
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  11. P. Iannetti
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Cristaldi, A., Vigevano, F., Antoniazzi, G. et al. Hemimegalencephaly, hemihypertrophy and vascular lesions. Eur J Pediatr 154, 134–137 (1995). https://doi.org/10.1007/BF01991917

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  • DOI: https://doi.org/10.1007/BF01991917

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