J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.48.9.936 on 1 September 1985. Downloaded from

Journal of Neurology, , and Psychiatry 1985;48:936-938 Short report

Familial syringomyelia

NEIL A BUSIS, FRED H HOCHBERG From the Department ofNeurology, Massachusetts General Hospital, Boston, Massachusetts, USA

SUMMARY A woman with and syringomyelia and her sister with syringomyelia are described. The diagnosis was confirmed radiologically and surgically in the first sister and no other definite abnormalities of her craniocervical junction were found.

Only five kindreds with true familial syringomyelia Serum laboratory values, skull and cervical spine radio- are reported in the English language literature to graphs, cranial CT scan, and visual and brainstem auditory our knowledge.'-6 We describe two sisters, one with evoked responses were normal. CSF protein was 0-57 g/il. Latencies of median somatosensory evoked responses

syringobulbia and syringomyelia and one with syrin- guest. Protected by copyright. were normal, but the amplitude of the P/N13 wave (upper gomyelia. cervical cord-lower medulla) on left-sided stimulation was one third that on the right. Right peroneal nerve somato- Case reports sensory evoked responses were normal. N/P37 (scalp) and LP-N/P37 (lower back to scalp) latencies were prolonged Case 1: At age 12 yrs, this 33-year-old woman developed on left peroneal nerve stimulation. Sensory nerve conduc- dysaesthesias and numbness in the left arm, shoulder, and tion studies were normal as were motor nerve conduction face. Numbness and burning pain subsequently involved velocities. Electromyographic evidence of active dener- the face, head, shoulder, chest, and arms bilaterally. She vation and/or reinnervation was present in right C5 to Ti noted diplopia, oscillopsia on down gaze, difficulty tasting, myotomes and left C7 to Ti myotomes. hoarseness, dysphagia, weakness of both upper Cervical metrizamide revealed low-lying extremities, and unsteady gait. cerebellar tonsils that did not project below the foramen Physical examination revealed a short and kyphosis magnum and a small diameter cervical . A cer- of the lower cervical and upper thoracic spine. She had a vical CT scan 6 hours later showed uptake of contrast into right Hornet's syndrome and diplopia on left and up gaze the spinal cord from C2 to C6, indicating a syrinx. with the right eye image projected laterally. There was At C7-T1 laminectomy, the spinal cord was flattened clockwise rotatory nystagmus on lateral and down gaze, and atrophic, but it expanded with each positive pressure and vertical nystagmus on down gaze. Pin, touch, and inspiration. At midline posterior myelotomy a smooth- temperature sensation were diminished over the face. The walled cavity containing clear colourless fluid was entered left corneal reflex was absent. Taste was decreased on the at a depth of 2 5 mm. A spinal cord stent drain was placed. anterior two thirds of the left tongue. She was hoarse, the She tolerated the procedure well and was little changed left soft palate did not elevate, and the left gag reflex was two months later. absent. The left sternocleidomastoid was weak. The tongue Case 2: This 50-year-old sister of Case 1 noted dysaes- http://jnnp.bmj.com/ deviated to the left on protrusion. The legs were stronger thesias in left face, arm, and chest in her early teens and than the arms; the left side was stronger than the right. The subsequently noted weakness and decreased pain and right hand was weakest and intrinsic hand muscles were temperature sensation in both upper extremities. On wasted. Tandem walk was unsteady and tandem Romberg examination she had a short neck and mild kyphosis. Cra- manoeuvre was positive. Tendon reflexes were absent in nial nerves were normal except for slightly decreased pin arms, normal in legs. Babinski's sign was absent. Position and temperature sensation in the trigeminal distributions, sense was intact. Vibratory sensation was slightly impaired worst on the left. Both upper extremities were weak, in the left fingers. Pin and temperature sensation were proximally greater than distally, left greater than right. The markedly decreased from C2 to T6, more on the left. intrinsic hand muscles were atrophied. Tendon reflexes on September 27, 2021 by Touch was felt above T6, but was diminished on the left. were absent in the arms, but normal in legs. Babinski's sign was absent. Position and touch sensation were intact. Address for reprint requests: Dr NA Busis, 3500 Fifth Avenue, There was some decreased vibration sensation in the left Suite 305, Pittsburgh, PA15213, USA. hand and markedly decreased pin and temperature sensa- tion from C3 to T8 on the left, and from C4 to T6 on the Received 16 February 1985. Accepted 22 February 1985 right. She declined further evaluation. 936 J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.48.9.936 on 1 September 1985. Downloaded from

Familial syringomyelia 937 Other family members herited in two families,2426 and the genes may be There was no consanguinity and the paternal side of the linked in these kindreds. Marker loci for the family had no known neurological complaints. The mother myotonic dystrophy gene on chromosome 19232728 of Cases 1 and 2 did not feel pain or temperature in her might also serve as markers for some forms of fam- hands and could take things out of a hot oven without using ilial syringomyelia. potholders, but it was uncertain if her upper extremities had been weak. A brother had right arm weakness and Case 1 to decreased pain and/or temperature sensation in his hands. We thank Dr David B Grass for referring Three other brothers did not have neurological complaints. us and Drs Jean-Paul Vonsattel, Eric L Logigian, A maternal first cousin had a baby with "wide open spine" and Alan R Berger for helpful discussions. who di'd a few months after birth. Case 2's three children and sixteen nieces and nephews had no neurological com- References plaints. 'Schliep G. Syringomyelia and syringobulbia. In: Vinken Discussion PJ, Bruyn GW, eds. Handbook of Clinical Neurology, vol 32. Amsterdam: Elsevier/North-Holland Biomed- and ical Press 1978:255-327. Case 1 had confirmed cervical syringomyelia 2 McKusick VA. Mendelian Inheritance in Man, ed 6. Bal- symptoms and signs consistent with syringobulbia. timore: The Johns Hopkins University Press, 1983. Case 2 had symptoms and signs of cervical syringo- 3Bentley SJ, Campbell MJ, Kaufmann P. Familial myelia. The mother of these women may have had a syringomyelia. J Neurol Neurosurg Psychiatry similar disorder, suggesting dominant inheritance. 1975;38: 346-9. Few well documented kindreds with cervical 4Caraceni T, Giovannini P. Familial syringomyelia: a syringomyelia3-5 7-9 with either dominant5 or reces- report of four cases. Arch Psychiatr Nervenkr 1977; 224:331-40. guest. Protected by copyright. sive3 4 78 inheritance have been reported. Un- and surgical confirmation was sGim6nez-RoldAn S, Benito C, Mateo D. Familial com- equivocal radiological municating syringomyelia. J Neurol Sci 1978; obtained in only one family5 and pathological 36:135-46. confirmation was obtained in another.8 Myelo- 6 Jefferson TO, Cohen C. Familial syringomyelia with graphic enlargement of the cervical spinal cord was mental impairment. J R Army Med Corps found in one member of each of three other kin- 1982; 128:41-42. dreds, but intramedullary cavities were not demons- 7Barre JA, Reys L. Syringomy6lie chez le frere et la trated.3 4 Reports of other families said to have cer- soeur. Rev Neurol (Paris) 1924; 1: 521-30. vical syringomyelia (reviewed in24 10; see 11-13) con- 8 Van Bogaert L. Syringomyelie bei zwei Schwestern in tain insufficient confirmatory data. einem der F-alle Vorhandensein einer Kleinhirncyste. Many members of kindreds with syringomyelia Anatomisch-klinischer Beitrag. Z gesamte Neurol impression, and/or Psychiatr 1934; 149:661-77. have occipital dysplasia, basilar Wild H, Behnert J. Konkordante Syringomyelie mit the Arnold-Chiari Type I malformation.' 3 5 9 14 15 okzipito-zervikaler Dysplasie bei eineiigem Zwilling- Syringomyelia, when present, could be secondary to spar. Munchen med Wschr 1964; 106:1421-8. altered flow due to the other '0 Van Epps C, Kerr HD. Familial lumbosacral syringo- anomalies at the craniocervical junction.'6 The myelia. Radiology 1940;35: 160-73. findings in Case 1 may argue against this hypothesis "Shishkina AV. K kharakteristike nasledstvennosti sirin- as no other definite anomalies of her craniocervical gomielii [To the hereditary characteristics of syringo- junction were found. However, her craniocervical myelia]. Zh Nevropatol Psikhiatr 1969;69: 1509-14. 12 Skvirskaia KB. K probleme nasledstvennosti siringo-

was not explored at , she did not http://jnnp.bmj.com/ junction mielii [The problem of hereditary syringomyelia]. Zh receive a magnetic resonance imaging scan,"'79 and Nevropatol Psikhiatr 1970; 70:1281-6. such abnormalities could have been present at an 3 Ishchenko MM, Degtiar VV, Komorovskaia IaM. Che- earlier age. tyre nabliudeniia semeinoi siringomielii v odnom Familial syringomyelia may occasionally arise pokolenii [Four cases of familial syringomyelia in a from shared environmental factors since dizygotic single generation]. Zh Nevropatol Psikhiatr twins that both had syringomyelia have been 1976;76:662-5. reported,' some monozygotic twins are not concor- '4 Scoville WB, Sherman IJ. Platybasia: report of ten cases pre- with comments on familial tendency, a special diag- dant-for syringomyelia,l and there is increased on September 27, 2021 by valence of syringomyelia in certain areas.' 20 21 nostic sign, and the end results of operation. Ann Surg may result from abnor- 195 1; 133:496-502. Familial syringomyelia '5 Paradis RW, Sax DS. Familial basilar impression. malities in genes directing spinal cord develop- Neurology (Minneap) 1972;22:554-60. ment.22 Molecular genetic techniques potentially 16 Coria F, Quintana F, Rebollo M, Combarros 0, Ber- enable these genes to be identified.23 Syringomyelia ciano J. Occipital dysplasia and Chiari type I defor- and myotonic dystrophy were simultaneously in- mity in a family: clinical and radiological study of J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.48.9.936 on 1 September 1985. Downloaded from

938 Busis, Hochberg three generations. J Neurol Sci 1983;62:147-58. diseases. Muscle Nerve 1983;6:339-55. 7 Hawkes RC, Holland GN, Moore WS, Corston R, Kean 24 Weingarten K, Gerstenbrand F. Eine ungewohnliche DM, Worthington BS. Craniovertebral junction Kombination von zwei neurologischen Krankheitsbil- pathology: assessment by NMR. AJNR 1983;4:232- dern. Wien Z Nervenheilkd 1958;15:361-9. 3. 25 Avenarius HJ, Gerstenbrand F, Weingarten K. Dys- 8 Yeates A, Brant-Zawadzki M, Norman D, Kaufman L, trophia myotonica und Syringomyelie. (Eine weitere Crooks LE, Newton TH. Nuclear magnetic resonance Mitteilung uber das familiare gemeinsame Auftreten imaging of syringomyelia. AJNR 1983;4:234-7. sowie uber einen Cardiospasmus im Rahmen des DeLaPaz RL, Brady TJ, Buonanno FS, et al. Nuclear neurologischen Syndroms). Wien Z Nervenheilkd magnetic resonance (NMR) imaging of Arnold-Chiari 1968;26: 13-26. type I malformation with hydromyelia. J Comput 26 Kuhn E. Dystrophica myotonica and syringomyelia. In Assist Tomogr 1983;7:126-9. Vinken PJ, Bruyn GW, eds. The Handbook ofClinical 28 Sirotkin VM. Regional peculiarities of syringomyelia as Neurology, vol 43. Amsterdam: Elsevier/North- Hol- a medical-genetic problem. Genetika (Moskva) 1970; land Biomedical Press 1982:155-6. 6: 166-72. 27 Harper PS, Rivas ML, Bias WB, Hutchinson JR, Dyken 21 Hertel G, Hild J, Monninghoff H. Geomedizinische PR, McKusick VA. Genetic linkage confirmed be- Untersuchungen uber die Verbreitung der Syring- tween the locus for myotonic dystrophy and the omyelie in Deutschland. Z Neurol 1972;202: 295- ABH-secretion and Lutheran blood group loci. Am J 306. Hum Genet 1972;24:310-6. 22 Chatel M, Menault F, Pecker J. Arguments en faveur de 28 Whitehead AS, Solomon E, Chambers S, Bodmer WF, l'origine genetique des tableaux malformatifs syring- Povey S, Fey G. Assignment of the structural gene for ohydromyeliques. Neurochirurgie 1979; 25: 160-5. the third component of human complement to 23 Roses AD, Pericak-Vance MA, Yamaoka LH, Stub- chromosome 19. Proc Natl Acad Sci USA blefield E, Stajich J, Vance JM, Roses MJ, Carter DB. 1 982;79: 5021-5.

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