J Med Genet 1994;31:969-971

Progressive hemifacial atrophy with agenesis ofthe head of the caudate nucleus

Miguel Leao, Maria Luis Ribeiro da Silva

AbstractWe describe awoman with right hemifacialatrophy, a high palate, partial left motorseizures, and mild atrophy ofthe left arm.CT scan showed asymmetrical lateralventricles and MRI (magnetic resonanceimaging) showed atrophy of the right ce-rebral hemisphere and agenesis ofthe headofthe right caudate nucleus. To our know-ledge, this is the first report of Parry-Romberg syndrome associated with struc-tural abnormalities ofthe basal nuclei doc-umented by MRI. We suggest that aneurovascular aetiology can explain thespectrum of segmental defects associatedwith hemifacial atrophy.

(JMed Genet 1994;31:969-971)

Department ofMedical Genetics,Faculty of Medicine,and Department ofNeurology andNeurosurgery,Paediatric NeurologyUnit, Hospital S Joao,Porto, PortugalM Leao

Department ofNeurology andNeurosurgery,Neuroradiology Unit,Hospital S Joao,Porto, PortugalM L Ribeiro da Silva

Correspondence to Dr Ledo,Department of MedicalGenetics, Faculty ofMedicine, Hospital de SJoao, Alameda Prof HemaniMonteiro, 4000 Porto,Portugal.Received 16 November1993.Revised version accepted forpublication 22 July 1994.

Parry-Romberg syndrome or hemifacial at-rophy is an uncommon and poorly understoodcondition manifested by progressive hemifacialatrophy of skin, soft tissue, and bone withinone or more trigeminal nerve dermatomes. Thesymptoms usually begin in the first or seconddecades' sometimes associated with con-tralateral partial motor seizures," trigeminalneuralgia,4 mastigatory spasms,'-' hemiplegicmigraine,'0 and cerebral or cerebellar mal-formations.23 1' 2 Other abnormalities associatedwith hemifacial atrophy are atrophy ofthe trunk

13 16 6 14 17-19and extremities, - scleroderma, sys-temic lupus erythematosus,'8 ocular defects,420and Poland syndrome.2'We describe a patient with Parry-Romberg

disease associated with agenesis of the head ofthe right caudate nucleus.

Case reportA 31 year old woman was referred to theDepartment ofNeurology, when she developedpartial motor seizures of the left arm. She hadright facial atrophy and hyperpigmentation overthe second and third divisions of the trigeminalnerve (fig 1), a high palate, mild atrophy of theright side of the tongue, and mild atrophy ofthe left arm. Her pectoral muscles and herfingers were normal. Since her teens she hadbeen aware of progressive atrophy of the rightside of her face. She reported two episodes ofspasms of the muscles of the right and left jaw,lasting for a few seconds and precipitated bythe movement of the jaw while eating, whenshe was 29 years old.Her neurological examination showed brisk

reflexes in the left arm. Ocular movements,pupillary reactions, and the ocular fundus were

normal. Sensation was normal in all divisionsof both fifth cranial nerves, trunk, arms, andlegs.The electroencephalogram showed gen-

eralised low voltage with delta waves in theright temporal region. The CT scan showedasymmetrical lateral ventricles and enlargementof the right-central sulcus, suggesting partialatrophy of the right hemisphere. MRI showedatrophy of the right cerebral hemisphere,agenesis of the head of the right caudatenucleus, and partial absence of the right puta-men (fig 2A and B). Antinuclear antibodieswere absent.The family history was unremarkable. The

mother and the father were 24 and 29 yearsold respectively at the time ofthe patient's birthand were not consanguineous. The patient'sbirth and previous medical history were un-eventful.

DiscussionThis patient has several abnormalities usuallydescribed in Parry-Romberg syndrome: hemi-facial atrophy, contralateral partial motor seiz-ures, contralateral atrophy of the arm, andmastigatory spasms. The agenesis of the headof the right caudate nucleus has not previously

Figure 1 Lateral view of the patient's face.

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Ledo, Ribeiro da Silva

Figure 2 Axial (left) and coronal (right) T2 weighted images (2500190) showing atrophy of the right cerebralhemisphere, agenesis of the head of the right caudate nucleus, and partial agenesis of the right putamen.

been reported and enlarges the spectrum ofstructural defects described in this disorder.There are several published reports that sup-

port the hypothesis ofa neurovascular aetiologyin hemifacial atrophy. Dintiman et al2' de-scribed a patient with Parry-Romberg diseaseassociated with a contralateral Poland anomaly.This defect can be caused by a subclavian arterysupply disruption.2223 A case of atrophy of therhomboid muscles associated with hemifacialatrophy was reported by Zafarulla'6 and thereare other reports showing the association ofan abnormal arterial supply with isolated orfamilial cases of muscular agenesis.24 Hirata etal'3 reported a case ofcrossed total hemiatrophyinvolving the right side of the face and the leftside of the trunk and extremities in a patientwith a right precentral to central arteriovenousmalformation. Hemiplegic migraine has alsobeen reported in patients with Parry-Rombergdisease."' These reports document the as-sociation ofParry-Romberg disease with severaldefects of vascular supply.

Partial motor seizures, occurring con-tralaterally to the side of the facial atrophy,have also been described in Parry-Rombergpatients. These seizures are probably causedby brain malformations23; the results of theEEG and neuroradiological investigations per-formed in our patient support this hypothesis.

Mastigatory spasms occur frequently inpatients with Parry-Romberg disease.`9 Astructural defect of the basal nuclei can explainthese involuntary movements. The occurrenceof mastigatory spasms in our patient and theresults of MRI imaging, showing completeagenesis ofthe head ofthe right caudate nucleusand partial absence of the putamen, lead usto speculate about the relationship between astructural defect of the basal nuclei and theoccurrence of mastigatory spasms in facialhemiatrophy. Although routine neuroradio-logical examination has not been systematicallyperformed in Parry-Romberg disease, severalauthors have reported abnormal CT scans inpatients with this disorder.21' 12 However, sincestructural abnormalities of the basal gangliaare easily missed on CT scanning, this mightexplain why other authors did not find this

abnormality in patients with Parry-Rombergdisease suffering from mastigatory spasms.Garcher et al25 suggested that sympathetic

overactivity owing to a dysfunction in the me-sencephalic area or in the superior cervicalsympathetic ganglion might account for theassociation of Fuch and Horner's syndromeswith hemifacial atrophy. A disruption of vas-cular supply caused by abnormal vessels or bysympathetic overactivity is a plausible ex-planation for the association of Parry-Rombergdisease with hemiplegic migraine,'0 with severalsegmental defects such as atrophy of the trunkand extremities,'3-'6 and with Poland syn-drome.2' Experimental evidence of sympatheticdysfunction in progressive facial hemiatrophywas recently provided by Resende et al.26The coexistence of Parry-Romberg disease

with scleroderma,'4 17 18 systemic lupus ery-thematosus,'8 and uveitis'o is well known.However, the relationship between theseautoimmune diseases and hemifacial atrophyis not clear. The results of microscopic studiesin patients with Parry-Romberg disease showabnormal lymphocytic infiltration of the vas-cular endothelium and basement membranes,suggesting chronic cell mediated vascular in-jury. 7 Biopsy specimens show the same kindof plasma and lymphocytic cells as found inpatients with scleroderma.2829 These findingssuggest that an immune reaction (either cellularor humoral) can explain the clinical evolutionof hemifacial atrophy.

It is difficult to explain the coexistence ofdisruptive defects, autoimmune diseases, andsympathetic overactivity in patients with hemi-facial atrophy. However, long standing ad-renergic or noradrenergic activity could lead toan exaggerated constriction of blood vesselscausing necrosis or an abnormal developmentof several body segments, and, secondarily, toa cascade of immunological reactions.Viewing the neurological abnormalities fre-

quently found in patients with facial hemi-atrophy (seizures and mastigatory spasms) werecommend routine CT scan and MRI ex-amination of those patients, to detect any ana-tomical defects ofthe cerebral hemispheres andbasal ganglia.

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Progressive hemifacial atrophy with agenesis of the head of the caudate nucleus

1 Rogers BO. Progressive hemifacial atrophy: Romberg's dis-ease. In: Broadbent TR, ed. Transactions of the 3rd In-ternational Congress ofPlastic Surgery. Amsterdam: ExcerptaMedica, 1964:681-99.

2 Kiene C, Massicot P, Ferriere-Fontan I, Sarlangue J, FontanD, Guillard JM. Sclerodermie en "coup de sabre" et hemi-atrophie faciale de Parry-Romberg. Problemes no-sologiques. Complications neurologiques. Ann Pediatr(Paris) 1989;36: 123-5.

3 Speciali JG, Resende LA. Hemiatrofia facial progressiva:registo de um caso. Arq Neuropsiquiatr 1984;42:166-70.

4 Auvinet C, Glacet-Bemard A, Coscas G, Cornelis P, CadotM, Meyringnac C. Hemiatrophie faciale progressive deParry-Romberg et sclerodermie localisee. Problemes no-sologiques et pathogeniques. J Fr Ophthalmol 1989;12:169-73.

5 Kaufman MD, Masticatory spasm in facial hemiatrophy.An Neurol 1980;7:585-7.

6 Lewkonia RM, Lowry RB. Progressive hemifacial atrophy(Parry-Romberg syndrome): report with review of geneticsand nosology. AmJMed Genet 1983;14:385-90.

7 Parisi L, Valente G, Dell-Anna C, Mariorenzi R, AmabileG. A case of facial hemiatrophy associated with linearscleroderma and homolateral masseter spasm. ItalJNeurolSci 1987;8:63-5.

8 Talacko AA, Reade PC. Hemifacial atrophy and tempo-romandibular joint pain dysfunction. IntJ Oral MaxillofacSurg 1988;17:224-6.

9 Thompson PD, Obeso JA, Delgado J, Gallego J, MarsdenCD. Focal dystonia ofthe jaw and the differential diagnosisof unilateral jaw and mastigatory spasms. J7 NeurolNeurosurg Psychiatry 1986;49:651-6.

10 Sagild JC, Alving J. Hemiplegic migraine and progressivehemifacial atrophy. Ann Neurol 1985;17:620.

11 Asher SW, Berg BO. Progressive hemifacial atrophy: reportof three cases including one observed over 43 years andcomputer tomographic findings. Arch Neurol 1982;39:44-6.

12 Lederman RJ. Progressive facial and cerebral hemiatrophy.Cleve Clin Q 1984;51:545-8.

13 Hirata K, Katayama S, Yamano K, Tsunashima Y, FujinumaH. Arteriovenous malformation with crossed total hem-iatrophy: a case report. 7 Neurol 1988;235:165-7.

14 Kuto F, Sakaguchi T, Horosawa Y, Hayashi M, Hirasawa Y,Tokuhiro H. Total hemiatrophy. Association with localizedscleroderma, Shonlein-Henoch nephritis and paroxysmal

971

nocturnal hemoglobinuria. Arch Intern Med 1985;145:731-3.

15 Lakhani PK, David TJ. Progressve hemifacial atrophy withscleroderma and ipsilateral limb wasting (Parry-Rombergsyndrome). J7 R Soc Med 1984;77:138-9.

16 Zafarulla MY. Progressive hemifacial atrophy: a case report.Br Jf Ophthalmol 1985;69:545-7.

17 Goodman RM, Gorlin RJ. Atlas of theface in genetic disorders.St Louis: Mosby, 1977:528.

18 Kleiner-Baumgarten A, Sukenik S, Horowitz J. Linear scle-roderma hemiatrophy and systemic lupus erythematosus.J Rheumatol 1989;16:1141-3.

19 Wartenberg R. Progressive facial hemiatrophy. Arch NeurolPsychiatry 1945;54:75-96.

20 Miller MT, Sloane H, Goldberg MF, Grisolano J, FrenkelM, Mafee MF. Progressive hemifacial atrophy (Parry-Romberg disease). _J Pediatr Ophthalmol Strabismus 1987;24:27-36.

21 Dintiman BJ, Shapiro RS, Hood AF, Guba AM. Parry-Romberg syndrome in association with contralateral Po-land syndrome. Am Acad Dermatol 1990;22:371-3.

22 Bouvet JP, Leveque D, Bernetieres F, Cross JJ. Vascularorigin of Poland syndrome? A comparative rheographicstudy of vascularization of the arms of eight patients.

23 Bavink JNB, Weaver DD. Subclavian artery supply dis-ruption sequence: hypothesis of a vascular etiology forPoland, Klippel-Keil and Moebius syndrome. Am Jf MedGenet 1986;23:903-18.

24 Serratrice G, Poujet J. L'aplasie de l'eminence thenar: uneforme partielle et terminale de dysplasie du rayon radial:six observations. Presse Med 1986;15:193-6.

25 Garcher C, Humbert P, Bron A, Chirpaz L, Royer J.Neuropathie optique et syndrome de Parry-Romberg. Apropos d'un cas. J7 Fr Ophtalmol 1990;13:557-61.

26 Resende LAL, Dal Pai V, Alves A. Etude experimentale del'hemi-atrophie faciale progressive: effects de la sym-pathectomie cervicale chez l'animal. Rev Neurol (Paris)199 1;89:609-1 1.

27 Pensler JM, Murphy GF, Mulliken JB. Clinical and ultra-structural studies of Romberg's hemifacial atrophy. PlastReconstr Surg 1990;85:669-74.

28 Rees TD. Facial atrophy. Clin Plast Surg 1976;3:637-46.29 Schwartz RA, Tedescu AS, Stern LZ, Kaminska AM,

Haraldsen JM, Grekin DA. Myopathy associated withsclerodermal facial hemiatrophy. Arch Neurol 1981 ;38:592-4.

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