three of achondroplasia with neurological · john spillane fi&. 6.-air encephalogram of case 2...

J. Neurol. Neurosurg. Psychiat., 1952, 15, 246.

THREE CASES OF ACHONDROPLASIA WITH NEUROLOGICALCOMPLICATIONS

BY

JOHN D. SPILLANEFrom the Department ofNeurology and Neurosurgery, United Cardiff Hospitals

The role played by congenital malformations ofthe skull and spine in the production of lesions ofthe central nervous system has been increasinglyappreciated in recent years. In the skull prematuresynostosis of the sutures of the vault (craniostenosis)can lead to optic atrophy and symptoms of intra-cranial hypertension. Hydrocephalus and compres-sion of the brain stem and upper cervical cord canresult from deformities of the base of the skull, suchas platybasia and narrowing of the foramen magnum.In the spine congenital deformities, such as hemi-vertebrae, absence of cervical segments, scoliosis,and kyphosis, may also result in cord compressionin adult life.

In this paper attention is drawn to the possibleeffects on the nervous system of achondroplasia.This condition of foetal chondrodystrophy is wellknown and is characterized by failure of endo-chondral ossification. It results in a striking dis-proportion of the body; a large head, short limbs,and a spine of relatively normal length.The complications of hydrocephalus and com-

pression of the spinal cord and cauda equina aredemonstrated in the following case reports.

Case 1.-This was a man aged 40, an achondroplasicdwarf. He was 4 ft. 71 in. high, with a head circum-ference of 23 in. He was of average intelligence. Hisfather was similarly afflicted and in his forties developedparalysis of the legs, for which a spinal operation wasperformed in 1913. The patient stated that somerecovery took place, but he died a few years later whenparalysis of the lower limbs was then complete.The patient was well until January, 1951, when he

began to suffer from pains in the lumbo-sacral regionwhich later radiated down the outer aspects of boththighs. Six months afterwards he felt tingling sensa-tions in both feet and two weeks before admission tohospital in July, 1951, he felt that his buttocks and thesoles of his feet were numb. There had been somedifficulty in micturition for seven days.On examination speech was normal. His gait was

waddling with noticeable weakness of dorsiflexion of thefeet. The cranial nerves were normal. The arms were

normal. Abdominal reflexeswere present. Power in bothlegs was considerably reduced,especially below the knees, withbilateral partial foot drop. Kneeand ankle jerks were absenton each side. Plantar reflexeswere flexor. There was nowasting or fibrillation. Sensationwas moderately impaired bi-laterally (L.5, S.1, and 2),and analgesia was marked(S.3, 4, and 5) bilaterally. Therewas lumbar kyphosis (Fig. 1)with slight generalized restrictionof spinal movements.

Lumbar puncture at L.4--5showed clear orange colouredfluid (protein 2,060 mg. per100 ml.) and absolute block on FIG. I.-Gibbus defor-bilateral jugular compression. mity of lumbarspine in Case 1.

Radiological Examinationi.The patient had a fairly large head, with a shallow pos-terior fossa, a normal foramen magnum, no platybasia,and small facial bones with a slight degree of hyper-telorism.

Cisternal air encephalography showed slight sym-

*:.

....

FIG. 2.-Air encepha!ogram showing dilatation of lateral ventriclesin Case 1.

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A,CHONDROPLASIA WITH NEUROLOGICAL COMPLICATIONS

metrical ventricular dilatation (Fig. 2) including the thirdventricle. The aqueduct and fourth ventricles were normal.The cervical spine was normal, except for loss of the

lordotic curve. The dorsal spine was normal. The lumbarspine had marked kyphosis centred at L.2 (Fig. 3), the

body of which vertebrawas slightly wedged inthe lateral view. Theposterior surfaces ofW- ; ^-i E the lumbar vertebrae

WIifi were hollowed out,-ii11 . ,producing an undulat-

ing anterior margin ofthe spinal canal. Theintervertebral discspaces were abnormallywide. There was nospondylolisthesis. Theinterpedicular widthswere normal and it

FIG. 3.-Lumbar spine; kyphosis,wedging of L.V.2, wide discspaces, and concave posteriorborders of vertebral bodies inCase 1.

V+

FIG. 4a and b.-Lumbar myelograbodies and discs of L.V. 3

...... was no..-S.....demon

Ishorter

4. pedicles.

L !mrg1JIraphv.-collectedoppositeL.3, 4, aand b).demonstpools ofixed.examina

the evidence of block at these levels. It was concludedthat there was cauda equina compression opposite thebodies and discs L.3, 4, and 5.Lamiiiectomy.-Professor Lambert Rogers performed

a laminectomy at L.2, 3, 4, and 5. The dural tube wasdisplaced posteriorly at L.2, 3, and 4 by massivelyprotruding intervertebral discs which were removed.The dura was then opened and the cauda equina foundto be slack and relieved of pressure.

Progi'ess.-Following this operation the patient madegood progress and has now returned to his work andregained good function in both legs. The reflexes arestill absent but the sensory disturbance has practicallycleared.

Case 2.-This woman was aged 37 years and was atypical achondroplasic dwarf (Fig. 5), standing 4 ft. 5 in.high with a head circumference of 24 in. She was ofgood intelligence, and had no family history of dwarfism.

ttpossible to She was well until nine years ago when she firstst rpaotse any noticed numbness of the leftning of the foot. Subsequently she developed

low back pain with radiationof sciatic distribution. Weakness

bar Mi'elo- of the legs developed two years-The myodil ago with bilateral foot drop.i in three pools She had no symptoms referablethe bodies of to the head, trunk, neck, or uppernd 5 (Figs. 4a limbs. Precipitancy and fre-Tilting to 800 quency of micturition were pre-

trated that these sent. She had worn a caliperf myodil were on the left leg for the past year.

Subsequent On examination it was seen.tion confirmed that she was only able to walk

slowly .with the aid of two sticks.Speech was normal. The cranialnerves were normal. The upperlimbs were normal. The upperabdominal reflex was present, thelower reduced. There wasbilateral foot drop with corre.sponding muscular atrophy andloss of both ankle jerks. Theright knee jerk was reduced, theleft normal. Plantar reflexes FIG. 5 Slight dorso-lum-bar kyphosis- j* were flexor. All movements and horizontal sac-at the ankle were weak, but rum illCaise 2.those at the hip and knee werenearly normal. All forms of cutaneous sensationbelow both knees were markedly impaired. Betweenthe knees and groin pin-prick and temperaturedifferences were not fully appreciated. Vibration andjoint position sense were grossly defective in the feet.

< Lumbar puncture at L.3-4 demonstrated absolutemanometric block on bilateral jugular compression.The cerebrospinal protein was 575 mg. per 100 ml.

Radiological Examination-.-The skull was large, witha normal foramen magnum and no platybasia.

am; myodil arrested opposite Cistemal air encephalography showed marked sym-3, 4, and 5 in Case 1. metrical dilatation ot the lateral ventricles (Fig. 6) with

c

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Fi&. 6.-Air encephalogram of Case 2 showing dilatation of lateral

ventricles.

some dilatation also of the third ventricle, the aqueduct,and the fourth ventricle. No other deformity or dis-placement was shown. In the cervical spine the verte-brae were tall but there was no other abnormality.There was lower dorsal lordosis only. There was slightdorso-lumbar kyphosis (Fig. 7) with exaggerated lowerlumbar lordosis. The posterior surfaces of the vertebralbodies were concave with large intervertebral discspaces, and osteophytes at L. 1-2 and L. 2-3. The sacrumlay horizontally. Pedicles and interpedicular widths

were normal.4.s _ Lumbar myelo-

graphy showed partialblock at L.4 and com-plete block at L.3.

Myodil was arrestedat the L.1-2 disc space.A pool of myodil col-lected opposite eachvertebral body fromD.8 to L.A, and themyodil column wasinterrupted oppositeeach disc between theselevels (Figs. 8a and b).

It was concluded thatthere were multipleintervertebral discprotrusions with caudaequina compression.

FIG. 7--Lumbar myelogram showingslight dorso-lumbar kyphosis,lumbar lordosis, concave pos-terior borders of vertebralbodies, wide disc spaces an-teriorly, myodil arrested atL.V.4 with complete block atL.V.3 in Case 2.

Lamine ctomy.-A laminectomy per-formed by Mr. CharlesLangmaid disclosed anarrow spinal canalwith multiple disc pro-trusions and caudaequina compression.The protrudingmaterial was removed.

FIG. 8a and b.-Cisternal myelogram of Case 2showing myodil arrested at L.V.1-2 disc spacewith pool of myodil opposite each vertebralbody from D.8 to L.1.

The patient's subsequent progress was slow.She has not regained power in the left foot but thereis moderate improvement in the power of the rightlower limb and her gait is better.

Case 3.-This was a man aged 29, a typical achondro-plasic dwarf, standing 4 ft. 10 in. high, with a headcircumference of 24 5 in. His intelligence was belowaverage. He had no family history of dwarfism.The patient was well until two years ago when he

first began to notice weakness and stiffness of the lowerlimbs. At first there was dragging and periodic tremblingof the left leg. Later both legs became weak and hefound increasing difficulty in walking. He was forcedto give up his work three months ago. Recently he hadhad some pain in the cervico-occipital region and periodicsubsternal discomfort.On examination it was seen that he was unable to walk

without assistance and had a spastic tetraplegia. Thecranial nerves were normal. Neck movements werenormal. There was slight upper lumbar kyphosis.Power in both arms was markedly reduced but in thelegs power was little affected. The biceps, triceps, andradial reflexes were grossly exaggerated, with briskfinger reflexes. Abdominal reflexes were absent andthere was bilateral knee and ankle clonus. There wereextensor plantar responses bilaterally. There was noobvious wasting. Coordination was normal. Cutan-eous sensation was considerably reduced from C.2 toD.1, but below this level there was only slight loss ofsuperficial sensibility. Vibration sensation was absentin the lower limbs and not normally perceived belowmid-thoracic level. It was also reduced in the fingersand hands.

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Lumbar puncture at L.4-5 gave a clear fluid withnormal manometric tests when the head was in the mid-position. When the head was either flexed or extendedmore than 200 from the midline position complete spinalmanometric block was revealed. Cerebrospinal proteinwas 280 mg. per 100 ml.

Radiological Examination.-The skull had a largevault, the base smaller than normal (Fig. 9). Theclivus was steep and short. The posterior fossa wasshallow. The squamous occiput appeared to overhangthe atlas. There was slight hypertelorism, but noevidence of platybasia. The foramen magnum wasnormal.

FIG. 9.-Large head, depressed nasal bridge, short neck of Case 3.

A lumbar air encephalogram showed moderatesymmetrical dilatation of the lateral ventricles (Fig. 10)and slight dilatation of the aqueduct and third ventricle.Filling of the fourth ventricle in the brow-down positionwas not possible.The vertebral bodies were shallow and broad (resemb-

ling an infantile type of spine). With flexion of the head

FIG. 10.-Air encephalogram of Case 3 showing dilatation of lateralventricles.

FIG. 11.-Lumbar spine show-ing upper lumbar kyphosis,wedging of L.V.2, concaveposterior borders of verteb-ral bodies which are shallowand broad in Case 3.

there was subluxation ofthe axis on C.3. Theposterior surface of thebody of the axis was 4 mm.anterior to that of C.3.There was slight dorsallordosis and upper lumbarkyphosis (Fig. 11). TheL.2 vertebra was wedge-shaped. The pediclesand interpedicular widthswere normal. The posteriorsurfaces of the bodies ofthe lumbar vertebrae wereconcave and the inter-vertebral disc spaces werelarge.Lumbar Myelography.

In the lumbar region therewas constriction of themyodil column oppositeeach intervertebral discspace but without anyactual hold-up. In thecervical region there wasindentation of the anteriorsurface of the myodil column opposite each discspace. Confirmation of the presence of subluxationof the axis on C.3 was obtained (Fig. 12). The myodiloutlining the anterior wall of the thecal space wasseparated from the posterior surface of the axis by adistance of 5 mm., as compared with 2 mm. between itand the posterior surface of the body of C.3. No bonyexostosis could be demonstrated.

DiscussionParaplegia.-There has been some dispute about

the condition of the vertebral column in achondro-plasia. Some authors have described only thecharacteristic lumbar lordosis and tilting of thesacrum but Breus and Kolisko (1900) and Donathand Vogl (1925) showed that abnormalities of thespine were a regular occurrence and that there werechanges in the individual vertebrae and in the spineas a whole. They noted a decrease in the heightof the vertebral bodies and shortness of the pedicles.The latter resulted from premature synostosis of thecentres of ossification of the body with those ofthe lamina. The spinal canal was narrowed in oneor all of its diameters and this led to tight encase-ment of the normally developed spinal cord.Donath and Vogl also pointed out that in achondro-

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FIG. 12.-Lumbarmyelogram ofCase 3 showingsubluxation ofatlas on C.V.3.

plasia the normal developmental "unrolling" of

the spine is incomplete owing to the absence of a

well organized and directed growth of cartilage ;

straightening is not completed. The infant with

achondroplasia is born with some degree of dorso-

lumbar kyphosis and a gibbus may develop during

life. They reported the case of a 57-year-old male

adult achondroplasic who developed a spastic

paraplegia with urinary retention. The first lumbar

vertebra was wedge-shaped and displaced posteriorly

so that the twelfth thoracic and second lumbar

vertebrae articulated with each other anteriorly.

Spinal manometry at L. 4-5 was normal ; the

cerebrospinal fluid was normal. The patient died

four years later. At necropsy the constriction of

the spinal canal was pronounced and resulted from

shortness of the pedicles and "mushrooming " of

the superior articular process and encroachment on

the spinal canal. The cord itself was indented and

softened above the gibbus.

In 1949 Vogl and Osborne reported another case

of cord compression in an achondroplasic male

aged 30 years. He developed pain in the back and

legs, unsteadiness of gait, urinary incontinence, and

sexual impotence. There were no definite 'motoror sensory changes but the knee and ankle jerks

were hyperactive. The twelfth thoracic vertebra

was wedged and there was marked osteophyte

formation between the eleventh and twelfth verte-

brae. Lumbar puncture (L.2-3) showed that there

was partial manometric block ; the cerebrospinal

fluid was 80 mg. per 100 ml. Myeloscopy disclosed

narrowing 'of the spinal canal. Opaque myelo-

graphy indicated partial block at Th.11-12. Lami-nectomy confirmed these findings and was followedby relief of symptoms.Up to 1949 Vogl and Osborne said that there had

been 10 published cases (including their own) of" transverse myelopathy " in achondroplasic dwarfs.Few of these reports are at all complete. 1 havecome across one further report by Poynton (1907) inAllbutt and Rolleston's System of Medicine.Poynton's patient was 15 years of age, 41 in. inheight, and began to develop a spastic paraplegiain his thirteenth year. His mental state was good.The cause of the paraplegia cannot be deduced inthe case reports of Parhon and Schunda (1913) andof Parhon and Zalpachta (1905), two cases; ofZosin (1910), of Falta (1913), of Maas (1920),and of Kemenyffi (1924).

In the two remaining reports neurological andradiological findings are recorded; manometry andmyelography were not performed.

Albrecht and Ranzi (1926) published the case ofan achondroplasic dwarf, aged 46 years, whodeveloped complete spastic paraplegia with incon-tinence over a 10-year period. Lumbar puncture-yielded repeated dry taps and there was wedgingwith osteophyte formation of the twelfth thoracicvertebra. Laminectomy (Th.l10 11, and 12) con-firmed the presence of cord compression; thespinal canal appeared too tight for the dural sacwhich did not pulsate and bulged from the operativegap. There was considerable improvement following.this decompression laminectomy.

In the second case (Freund, 1933) the patient,aged 21 years, developed spastic weakness of thelower limbs, with pain in the back and thighs, overa period of one year. There was sensory lossbelow L.3 on the left side. Sphincters were unaf-fected. Lumbar puncture was not done. Thesecond lumbar vertebra was wedge-shaped andthere was a severe gibbus deformity. Traction gavetemporary relief. Laminectomy (Th. 12-L2) revealedsevere angulation of the cord and cauda equina,with a non-pulsatile tight dura. The latter was notopened. A flaccid paraplegia with incontinencefollowed the operation and a second explorationwas undertaken to exclude the presence of a haema-toma. None was found. The author felt that asimple congenital stenosis of the spinal canal wasnot the explanation for the paraplegia, but that cordcompression was subsequent to encroachment ofthe spinal canal by marginal exostoses. As inDonath and Vogl's case, the site of the cord com-pression was above the level of the gibbus.

Neurological complications may also arise inthe condition known as hereditary deforming

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dyschondroplasia (Slepian and Hamby, 1951).Compression of the spinal cord, the brachial plexus,and various nerves by bony exostoses have beenrecorded.

In Cases 1 and 2 of the present report caudaequina compression occurred at several levels as aresult of massive protrusion of lumbar intervertebraldiscs. In Case 3 there was subluxation of the secondcervical vertebra upon the third, and manometricspinal block was produced by slight flexion orextension of the neck. In the first two cases thebodies of the cervical vertebrae were rather tall.In all three the posterior surfaces of the bodies ofthe lumbar vertebrae were concave and the adjacentintervertebral disc spaces were abnormally wide.These appearances in the cervical and lumbar spinewere also observed in five out of six further achon-droplasic adults. One of these complained of painand stiffness in the back and thighs but there wereno neurological abnormalities. In another casethe right knee and ankle jerks were markedlyexaggerated and the plantar reflex on that side wasquestionably extensor. In a third case there was anisolated extensor plantar response but it was notconstantly demonstrable.

Hydrocephalus.-Marie (1900) considered thatthe enlargement of the head was probably due tothe presence of hydrocephalus although he lackednecropsy evidence. Jansen (1912) concluded thatshortening of the base of the skull involved the oralcavity and the sagittal dimensions of the foramenmagnum. He quoted Virchow, who consideredthat kyphosis basis cranii was a characteristicfeature of the disease. Jansen showed that thebrachycephalic configuration of the skull in achon-droplasia was also contributed by the increasedwidth of the skull. Two of his five cases hadhydrocephalus which he attributed to an impairedoutflow of cerebrospinal fluid from the ventricularsystem caused by brain stem compression anddistortion. Dandy (1921) supported this explana-tion. Hydrocephalus was present in his two casesand in one was demonstrated by ventriculographyto be of the communicating type. He thought thatthe chondrodystrophy at the base of the skullcauses obstruction in the posterior fossa and thedevelopment of ventricular dilatation. In somecases it has been demonstrated that the hydro-cephalus is present at birth (Russell, 1949), andDandy suggested that growth of the base of theskull after birth might lead to some relief of thehydrocephalus. In a recent examination of anachondroplasic infant, stillborn at the eighth month,I was unable to find any evidence of hydrocephalus.

In each of the three cases which form the basis ofthe present report, air encephalography revealedthe presence of internal hydrocephalus. Thedilatation of the lateral ventricles was symmetricaland was slight in Case 1, marked in Case 2, andmoderate in Case 3. In Case 1 the dilatationinvolved the third ventricle; the aqueduct and thefourth ventricle were normal. In Case 2 the thirdand fourth ventricles and the aqueduct were in-volved in the dilatation. In Case 3 the aqueductand third ventricle were dilated but filling of thefourth ventricle could not be obtained. Intelligencewas average in Case 1, high in Case 2, and belowaverage in Case 3.The lack of correlation between the degree of

hydrocephalus and the intelligence was noticeablein Case 2.As Jansen stressed, there are degrees of achon-

droplasia and slight examples of the disease may notbe recognized. It is conceivable that the chon-drodystrophic disturbance may at times be almostconfined to the base of the skull. Hydrocephalusmay then develop and the essential fact of achon-droplasia may pass undetected.

SummaryThe neurological complications which arose in

three achondroplasic adults are described. Internalhydrocephalus was present in each case and probablyresulted from the characteristic shortness of thebase of the skull. There was no evidence ofplatybasia nor of any deformity of the foramenmagnum.Two of the patients developed severe cauda

equina compression as a result of multiple massivelumbar intervertebral disc protrusions. At operationit was also observed that the spinal canal wasgenerally narrowed. The achondroplasic father ofone of these cases had also developed paraplegiarequiring laminectomy. The third patient had aspastic tetraplegia with subluxation of the secondcervical vertebra upon the third. There was spinalmanometric block when the neck was slightlyflexed or extended. No bony exostosis could bedemonstrated in the upper cervical level.

In Cases 1 and 2 the bodies of the cervical verte-brae were tall. In Case 3 all the vertebral bodieswere shallow and broad. In all three cases theposterior surfaces of the bodies of the lumbarvertebrae were concave and the intervertebral discspaces were unusually wide. Similar radiologicalsigns were observed in varying degree in five out ofsix other achondroplasic adults.

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None of the three patients with spinal compli-cations had ever been engaged in tumbling or

acrobatics.

I am grateful to Professor Lambert Rogers, Mr.Charles Langmaid, and Dr. Geoffrey H. T. Lloyd fortheir observations and assistance, and to Dr. ArthurM. Jones for the radiographs. Clinical photographswere taken by Mr. H. A. Griffiths, of the Department ofClinical Photography, Llandough Hospital.

REFERENCESAlbrecht, 0., and Ranzi, E. (1926). Wien. klin. Wschr., 39, 1241.Breus, C., and Kolisko, A. (1900). (Breus and Kolisko.) Die

pathologischen Beckenformen, vol. 1, pp. 267 and 313. Leipzig.Quoted by Vogl and Osborne.

Dandy, W. E. (1921). Bull. Johns Hopk. Hosp., 32, 5.Donath, J., and Vogl, A. (1925). Wien. Arch. inn. Med., 10, 1.Falta, W. (1913). Quoted by Vogl and Osborne.Freund, E. (1933). Arch. Surg., Chicago, 27, 859.Jansen, M. (1912). Achondroplasia: its Nature and its Cause.

Leiden.Kemenyffi, A. (1924). Quoted by Vogl and Osborne.Maas, 0. (1920). Z. ges. Neurol. Psychiat. (orig.), 57, 196. Quoted

by Vogl and Osborne.Marie, P. (1900). Presse mid., 8 (2), 17.Parhon, C., and Schunda, A. (1913). N. Iconogr. Salpet., 26, 185.-, and Zalplachta, (1905). Ibid., 18, 539.Poynton, F. J. (1907). In Allbutt and Rolleston's System ofMedicine,

2nd ed., vol. 3, p. 117.Russell, D. (1949). Spec. Rep. Ser. med. Res. Coun., Lond., No. 265.Slepian, A., and Hamby, W. B. (1951). J. Neurosurg., 8, 529.Vogl, A. and Osborne, R. L. (1949). Arch. Neurol. Psychiat.,

Chicago, 61, 644.Zosin, P. (1910). N. Iconogr. Salpet., 23, 31. Quoted by Vogl

and Osborne.

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