Top

Child's Nervous System

Published in:

01-04-2006 | Case Report

Difficulties in differentiation of Parry–Romberg syndrome, unilateral facial sclerodermia, and Rasmussen syndrome

Authors: Justyna Paprocka, Ewa Jamroz, Dariusz Adamek, Elzbieta Marszal, Marek Mandera

Published in: Child's Nervous System | Issue 4/2006

Abstract

Introduction

Parry–Romberg syndrome (progressive facial hemiatrophy) is a unilateral, slowly progressive atrophy affecting the skin, subcutaneous tissues, muscles, and bones. The relationship between Parry–Romberg syndrome and connective tissue disorders, especially scleroderma en coup de sabre, is still unclear. The neurological symptoms, including epilepsy, migraine, and brain lesion, on neuroimaging may be similar. Rasmussen encephalitis (RE) is connected with chronic inflammation and damage of one hemisphere. Clinically, it is manifested by epileptic partial seizures and unilateral neurological symptoms.

Case Report

The authors present the case of a 10-year-old girl with features suggestive of RE, with refractory partial motor dextrolateral seizures followed by development of hemiparesis and with progressive intellectual deterioration. At the age of 2 years, some changes on the left part of the face typical of Parry–Romberg syndrome or a linear form of scleroderma were noticed.

Discussion

The authors discussed the difficulties in differential diagnosis in that patient. The presented girl constitute the case from the borderline zone of the aforementioned disorders.

Andrew R et al (1998) Progressive facial hemiatrophy: abnormality of intracranial vasculature. Neurology 50:1915–1917PubMed

Blaszczyk M et al (2003) Progressive facial hemiatrophy: central nervous system involvement and relationship with scleroderma en coup de sabre. J Rheumatol 30:1997–2004PubMed

Cohen MM (2001) Asymmetry: molecular, biologic, embryopathic, and clinical perspectives. Am J Med Genet 101:292–314CrossRefPubMed

DeFelipe J et al (2001) Neuropathological findings in a patient with epilepsy and the Parry–Romberg syndrome. Epilepsia 42:1198–1203CrossRefPubMed

Derex L, Isnard H, Revol M (1995) Progressive facial hemiatrophy with multiple benign tumors and hamartomas. Neuropediatrics 26:306–309PubMed

Dupont S et al (1997) Progressive facial hemiatrophy and epilepsy. Neurology 48:1013–1018PubMed

Gamblicher T et al (2001) Bilateral linear scleroderma en coup de sabre” associated with facial atrophy and neurological complications. BMC Dermatol 1:9–13CrossRefPubMed

Granata T et al (2003) Rasmussen’s encephalitis: early characteristics allow diagnosis. Neurology 11:422–425

Grosso S et al (2003) Linear scleroderma associated with progressive brain atrophy. Brain Dev 25:57–61CrossRefPubMed

10.

Hart YM et al (1998) Double pathology in Rasmussen’s syndrome? A window on the etiology? Neurology 50:731–735PubMed

11.

Higashi Y, Kanekura T, Fukumaru K, Kanzaki T (2000) Scleroderma en coup de sabre; central nervous system involvement. J Dermatol 27:486–488PubMed

12.

Jablonska S, B³aszczyk M (1998) Scleroderma-like disorders. Semin Cutan Med Surg 17:65–76PubMed

13.

Marzano AV et al (2003) Localized scleroderma in adults and children. Clinical and laboratory investigations of 239 cases. Eur J Dermatol 13:171–176PubMed

14.

Morse RP (2004) Rasmussen encephalitis. Arch Neurol 61:592–594CrossRefPubMed

15.

Maeda Y et al (2003) Rasmussen syndrome: multifocal spread of inflammation suggested from MRI and PET findings. Epilepsia 44:1118–1121CrossRefPubMed

16.

Obermoser G et al (2003) Scleroderma en coup de sabre with central nervous system and ophthalmologic involvement: treatment of ocular symptoms with interferon gamma. J Am Acad Dermatol 49:346–543CrossRefPubMed

17.

Orozco-Covarrubias L et al (2002) Scleroderma “en coup de sabre” and progressive facial hemiatrophy. Is it possible to differentiate them? J Eur Acad Dermatol Venereol 16:361–366CrossRefPubMed

18.

Pardo CA et al (2004) The pathology of Rasmussen syndrome: stages of cortical involvement and neuropathological studies in 45 hemispherectomies. Epilepsia 45:516–526CrossRefPubMed

19.

Pichiecchio A et al (2002) Parry–Romberg syndrome with migraine and intracranial aneurysm. Neurology 59:606–608PubMed

20.

Santagati F, Rijli F (2004) Cranial neural crest and the building of the vertebrate head. Nat Rev Neurosci 4:806–818CrossRef

21.

Schievink WI et al (1995) Spontaneous carotid-jugular fistula and carotid dissection in a patient with multiple intracranial arachnoid cysts and hemifacial atrophy: a generalized connective tissue disorder? Case report. J Neurosurg 83:546–549PubMed

22.

Shah JR et al (2003) Rasmussen encephalitis associated with Parry–Romberg syndrome. Neurology 61:395–397PubMed

23.

Stone J, Franks AJ, Guthrie JA, Johnson S (2001) Scleroderma “en coup de sabre”: pathological evidence of intracerebral inflammation. J Neurol Neurosurg Psychiatry 70:382–385CrossRefPubMed

24.

Stone J (2003) Parry–Romberg syndrome. A global survey of 205 patients using the Internet. Neurology 61:674–676PubMed

25.

Tebias SM et al (2003) Bilateral Rasmussen encephalitis: postmortem documentation in a five-year-old. Epilepsia 44:127–130CrossRefPubMed

26.

Woolfenden AR et al (1998) Progressive facial hemiatrophy: abnormality of intracranial vasculature. Neurology 50:1915–1917PubMed

27.

Yano T et al (2000) Progressive facial hemiatrophy after epileptic seizures. Pediatr Neurol 23:164–166CrossRefPubMed

28.

Fry JA et al (1992) Intracranial findngs in progressive facial atrophy. J Rheumatol 19:956–958

29.

Chung MH et al (1995) Intracerebral involvement in scleroderma en coup de sabre: report of a case with neuropathologic findings. Ann Neurol 37:679–681CrossRefPubMed

30.

Liu P et al (1994) Localized scleroderma: imaging features. Pediatr Radiol 24:207–209CrossRefPubMed

31.

Ternsteege K et al (1994) MR of the brain involvement in progressive facial hemiatrophy. (Romberg Disease): reconsideration of a syndrome. Am J Neuroradiol 15:145–150PubMed

32.

Luer W et al (1990) Progressive inflammatory lesions of the brain parenchyma in localized scleroderma of the head. J Neurol 237:379–381CrossRefPubMed

33.

Goldberg-Stern H, deGrauw T, Passo M, Ball WS Jr (1997). Parry Romberg syndrome: Follow-up imaging during suppressive therapy. Neuroradiology 39:873–876CrossRefPubMed

34.

Cory RC et al (1997). Clinical and radiologic findings in progressive facial hemiatrophy (parry-Romberg syndrome). Am J Neuroradiol 18:751–757PubMed

35.

Wolf SD, Verity MA (1974). Neurological complications of progressive facial hemiatrophy. J Neurol Neurosurg Psychiatry 37:997–1004

36.

Verity C, Firth H, French-Constant C (2003). Congenital abnormalities of the central nervous system. J Neurol Neurosurg Psychiatry 74(suppl1):3–8CrossRef

37.

Dubeau F et al (1988) Morphoea or focal scleroderma of the brain: intractable epilepsy and clinicopathologic correlation. Epilepsia 29:712–713

38.

Wartenberg R et al (1945) Progressive facial hemiatrophy. Arch Neurol Psychiatry 54:75–96

Title: Difficulties in differentiation of Parry–Romberg syndrome, unilateral facial sclerodermia, and Rasmussen syndrome
Authors: Justyna Paprocka
Ewa Jamroz
Dariusz Adamek
Elzbieta Marszal
Marek Mandera
Publication date: 01-04-2006
Publisher: Springer-Verlag
Published in: Child's Nervous System / Issue 4/2006
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI: https://doi.org/10.1007/s00381-005-1262-x

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Difficulties in differentiation of Parry–Romberg syndrome, unilateral facial sclerodermia, and Rasmussen syndrome

Abstract

Introduction

Case Report

Discussion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Introduction

Case Report

Discussion

Please log in to get access to this content

Other articles of this Issue 4/2006

Association of intra- and extradural developmental venous anomalies, so-called venous angioma and sinus pericranii

Development of anaplastic ependymoma in Rasmussen’s encephalitis: review of the literature and case report

Intrauterine penetrating direct fetal head trauma following gunshot injury

The international infant hydrocephalus study: concept and rational

Rapidly growing giant suprasellar tumor in a high-risk child: treatment strategy and role of neuroendoscopic surgery in slit-like ventricles

Endoscopic assisted excision of a retroclival arachnoid cyst presenting as hysterical breathlessness