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Three Cases of Achondroplasia with Neurological Complications by John D

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Three Cases of Achondroplasia with Neurological Complications by John D J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.15.4.246 on 1 November 1952. Downloaded from J. Neurol. Neurosurg. Psychiat., 1952, 15, 246. THREE CASES OF ACHONDROPLASIA WITH NEUROLOGICAL COMPLICATIONS BY JOHN D. SPILLANE From the Department ofNeurology and Neurosurgery, United Cardiff Hospitals The role played by congenital malformations of normal. Abdominal reflexes the skull and spine in the production of lesions of were present. Power in both the central nervous system has been increasingly legs was considerably reduced, appreciated in recent years. In the skull premature especially below the knees, with synostosis of the sutures of the vault (craniostenosis) bilateral partial foot drop. Knee can lead to optic atrophy and symptoms of intra- and ankle jerks were absent cranial hypertension. on each side. Plantar reflexes Hydrocephalus and compres- were flexor. There was no sion of the brain stem and upper cervical cord can wasting or fibrillation. Sensation result from deformities of the base of the skull, such was moderately impaired bi- as platybasia and narrowing of theforamen magnum. laterally (L.5, S.1, and 2), guest. Protected by copyright. In the spine congenital deformities, such as hemi- and analgesia was marked vertebrae, absence of cervical segments, scoliosis, (S.3, 4, and 5) bilaterally. There and kyphosis, may also result in cord compression was lumbar kyphosis (Fig. 1) in adult life. with slight generalized restriction In of spinal movements. this paper attention is drawn to the possible Lumbar effects on the nervous system of achondroplasia. puncture at L.4--5 This showed clear orange coloured condition of foetal chondrodystrophy is well fluid (protein 2,060 mg. per known and is characterized by failure of endo- 100 ml.) and absolute block on FIG. I.-Gibbus defor- chondral ossification. It results in a striking dis- bilateral jugular compression. spinemity ofin lumbarCase 1. proportion of the body; a large head, short limbs, Radiological Examinationi. and a spine of relatively normal length. The patient had a fairly large head, with a shallow pos- The complications of hydrocephalus and com- terior fossa, a normal foramen magnum, no platybasia, pression of the spinal cord and cauda equina are and small facial bones with a slight degree of hyper- demonstrated in the following case reports. telorism. Cisternal air encephalography showed slight sym- Case 1.-This was a man aged 40, an achondroplasic dwarf. He was 4 ft. 71 in. high, with a head circum- ference of 23 in. He was of average intelligence. His father was similarly afflicted and in his forties developed paralysis of the legs, for which a spinal operation was *:. http://jnnp.bmj.com/ performed in 1913. The patient stated that some recovery took place, but he died a few years later when paralysis 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 region which later radiated down the outer aspects of both thighs. Six months afterwards he felt tingling sensa- tions in both feet and two weeks before admission to hospital in July, 1951, he felt that his buttocks and the on September 29, 2021 by soles of his feet were numb. There had been some difficulty in micturition for seven days. On examination speech was normal. His gait was waddling with noticeable weakness of dorsiflexion of the feet. The cranial nerves were normal. The arms were FIG. 2.-Air encepha!ogram showing dilatation of lateral ventricles in Case 1. J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.15.4.246 on 1 November 1952. Downloaded from A,CHONDROPLASIA WITH NEUROLOGICAL COMPLICATIONS 247 metrical ventricular dilatation (Fig. 2) including the third the evidence of block at these levels. It was concluded ventricle. The aqueduct and fourth ventricles were normal. that there was cauda equina compression opposite the The cervical spine was normal, except for loss of the bodies and discs L.3, 4, and 5. lordotic curve. The dorsal spine was normal. The lumbar Lamiiiectomy.-Professor Lambert Rogers performed spine had marked kyphosis centred at L.2 (Fig. 3), the a laminectomy at L.2, 3, 4, and 5. The dural tube was body of which vertebra displaced posteriorly at L.2, 3, and 4 by massively was slightly wedged in protruding intervertebral discs which were removed. the lateral view. The The dura was then opened and the cauda equina found posterior surfaces of to be slack and relieved of pressure. W- ; ^-i E the lumbar vertebrae Progi'ess.-Following this operation the patient made WIifi were hollowed out, . ,producing an undulat- good progress and has now returned to his work and -ii11 ing anterior margin of regained good function in both legs. The reflexes are the spinal canal. The still absent but the sensory disturbance has practically intervertebral disc cleared. spaces were abnormally wide. There was no Case 2.-This woman was aged 37 years and was a spondylolisthesis. The typical achondroplasic dwarf (Fig. 5), standing 4 ft. 5 in. interpedicular widths high with a head circumference of 24 in. She was of were normal and it good intelligence, and had no family history of dwarfism. ...... was no ttpossible to She was well until nine years ago when she first ..-S.....demon strpaotse any noticed numbness of the left of the foot. Subsequently she developed I shorterning pedicles. low back pain with radiation 4. of sciatic distribution. Weakness L !mr bar Mi'elo- of the legs developed two years guest. Protected by copyright. g1JIraphv.--The myodil ago with bilateral foot drop. collectedi in three pools She had no symptoms referable opposite the bodies of to the head, trunk, neck, or upper L.3, 4, a nd 5 (Figs. 4a limbs. Precipitancy and fre- and b). Tilting to 800 quency of micturition were pre- FIG. 3.-Lumbar spine; kyphosis, demonsttrated that these sent. She had worn a caliper wedging of L.V.2, wide disc spaces, and concave posterior pools of myodil were on the left leg for the past year. borders of vertebral bodies in fixed. Subsequent On examination it was seen Case 1. examina.tion confirmed that she was only able to walk slowly .with the aid of two sticks. Speech was normal. The cranial nerves were normal. The upper limbs were normal. The upper abdominal reflex was present, the lower reduced. There was V+ bilateral foot drop with corre. sponding muscular atrophy and loss of both ankle jerks. The right knee jerk was reduced, the 5 left normal. Plantar reflexes FIG. lum-barSlight kyphosisdorso- - j* were flexor. All movements and horizontal sac- at the ankle were weak, but rum illCaise 2. http://jnnp.bmj.com/ those at the hip and knee were nearly normal. All forms of cutaneous sensation below both knees were markedly impaired. Between the knees and groin pin-prick and temperature differences were not fully appreciated. Vibration and joint position sense were grossly defective in the feet. < Lumbar puncture at L.3-4 demonstrated absolute manometric block on bilateral jugular compression. on September 29, 2021 by The cerebrospinal protein was 575 mg. per 100 ml. Radiological Examination-.-The skull was large, with a normal foramen magnum and no platybasia. FIG. 4a and b.-Lumbar myelograam; myodil arrested opposite Cistemal air encephalography showed marked sym- bodies and discs of L.V. 33, 4, and 5 in Case 1. metrical dilatation ot the lateral ventricles (Fig. 6) with c J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.15.4.246 on 1 November 1952. Downloaded from 248 JOHN SPILLANE 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. FIG. 8a and b.-Cisternal myelogram of Case 2 showing myodil arrested at L.V.1-2 disc space guest. Protected by copyright. There was lower dorsal lordosis only. There was slight with pool of myodil opposite each vertebral dorso-lumbar kyphosis (Fig. 7) with exaggerated lower body from D.8 to L.1. lumbar lordosis. The posterior surfaces of the vertebral bodies were concave with large intervertebral disc The patient's subsequent progress was slow. spaces, and osteophytes at L. 1-2 and L. 2-3. The sacrum She has not regained power in the left foot but there lay horizontally. Pedicles and interpedicular widths is moderate improvement in the power of the right were normal. lower limb and her gait is better. 4.s _ Lumbar myelo- Case 3.-This was a man aged 29, a typical achondro- graphy showed partial plasic dwarf, standing 4 ft. 10 in. high, with a head block at L.4 and com- circumference of 24 5 in. His intelligence was below plete block at L.3. average. He had no family history of dwarfism. Myodil was arrested The patient was well until two years ago when he at the L.1-2 disc space. first began to notice weakness and stiffness of the lower A pool of myodil col- limbs. At first there was dragging and periodic trembling lected opposite each of the left leg. Later both legs became weak and he vertebral body from found increasing difficulty in walking. He was forced D.8 to L.A, and the to give up his work three months ago. Recently he had myodil column was had some pain in the cervico-occipital region and periodic interrupted opposite substernal discomfort. each disc between these On examination it was seen that he was unable to walk levels (Figs.
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