Progressive bulbar paralysis in childhood: a case report Perticoni G.F., Cantisani T.A., Fisher H.
Servizio di Neurofisiopatologia, Ospedale Generale Regionale, Perugia
The case of a progressive bulbar paresis in a nine and a half year old child is reported The first symptoms were present at birth," however the subsequent evolution was very slow. Lesion of the motor nuclei of the V, VII, IX, XII, cranial nerves was evident on electromyographic investigation. Damage to the acoustic brain stem pathway was documented by the brain stem evoked potentials although audiometry was normal No other neuronal systems or districts appeared to be damaged The case suggests Fazio-Londe disease, although the involvement (albeit partial) of the auditory pathways recalls Van Laere syndrome. This supports the view that motor neuron disease in infancy is not an autonomous entity but a variant in a wide spectrum of progressive neuronal diseases. Key-Words:
Fazio-Londe syndrome - -
Van Laere syndrome - -
motor neuron disease in
The syndrome of progressive bulbar paralysis in children (Fazio-Londe syndrome) is a rare disease, still under investigation [10,3,8]. We present a new case with interesting peculiar features. Case Report
This child first came under our observation at the age of 9 1/2 years. There was no family history of neurological disease. She was the third child of non consanguineous parents, born at term by cesarean section due to inertia uterina. No serious diseases were reported during the pregnancy. At birth she weighed 5 Kg and cried immediately and strongly (Apgar score = 9); however she very soon had difficulty in sucking, and cried continuously. For this reason it was necessary to go over to bottle-feeding, making "a big hole" in the teat. At 6-7 months of age, when the child was beginning to maintain a good sitting position, her parents were obliged to feed her lying down because the food usually
dribbled from her mouth. At the beginning of teething the child had difficulty in closing the bite well and, when solid feeding began, difficulty in chewing. She helped herself by pushing herj aw to her chest with rhythmic movements of the head in a hyperflexed position. Otherwise neuro and psychomotor development was normal. The attainment of sphincter control was within physiological limits. Language also showed regular development in the first 3 years. From four years of age a manifest involution took place with a progressive loss of facial expression. No other major diseases have been reported. The child attends school, and she is progressing well academically. The present clinical examination shows: - - Serious paresis of the facial muscles, particularly of the lower ones, bilaterally. - - Mandible falling while resting, with open bite (1 cm.). Marked reduction in the power of mandible closing, with good ability to open against resistance; protraction, retraction and lateral movements of the mandible almost absent. 107
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Complete atrophy of the masseter muscles (reduced to small fibrous cords); serious atrophy of the temporalis muscles. Moderate bilateral atrophy of the tongue; gothic palate with paresis of the right soft palate. Dysarthric language with hardly intelligible nasal speech. Marked fasciculations in the "orbicularis oculi" and lingual muscles. Bilaterally reduced corneal reflexes. Ocular and pharyngo-laryngeal motility+ hearing, trigeminal sensitivity, sterno-cleidomastoideus and trapezius muscles, limb and trunk muscles, tendon reflexes, cerebellar, pyramidal and extrapyramidal functions were all normal. -
- - N o repiratory difficulty. Body weight, height and cranial circumference within normal limits. Electrophysiological Findings. The electromyographic investigation showed denervation and spontaneous motor unit activity in the orbiculares muscles bilaterally, and moderate denervation activity in isolated areas of the masseter and temporal muscles. On maximal voluntary contraction (Fig. 1) no more than one or two motor unit potentials (MUPs) were recorded in the orbiculares oris and oculi, and in the chewing muscles, with the exception of masseter, which did not show activity; the MUPs were of reduced amplitude, irregular and of increased duration. Tracings in the sterno-cleido-mastoideus and trapezius muscles, as well as in all limb
Fig. 1. Eleetromvographic pattern at m a x i m a l volunta 9 effort in some examined muscles. L." left. R." right. For comment see text.
Perticoni: Progressive bulbar paralysis in childhood
muscles examined, were normal. Electroneurographic study showed normal maximal motor conduction velocity in the ulnar and peroneal nerves, with regular evoked potentials of normal amplitude. The somatosensory evoked responses from the lower limbs were also normal. A udiovestibular Findings. Pure tone auditory threshold was about 10-15 dB H L for all examined frequencies (250, 500, 1000, 2000, 4000
LEFT EAR RIGHT EAR
Hz). Impedance audiometry showed normal tympanograms bilaterally, while stapedial reflexes evoked by pure tones (500, 1000, 2000, 4000 Hz) were absent bilaterally, even at the highest intensities (120 dB HL). Brain stem audiometry (BSEAR) was performed using 0.1 msec monaural clicks in two series of 1600 stimuli each. Clicks were delivered with decreasing intensity by ten dB steps from 120 to 80 dB SPL. As will be seen in Fig. 2, the JI wave, which is thought to represent the response of the peripheral partition, was slightly delayed in latency but it fell broadly within the normal reference values of our laboratory. JII and JIII, which are thought to represent the responses of the auditory nuclei and of the olivary complex, were significantly delayed compared to normal values. Finally the JV wave, which represents the auditory potential evoked by the inferior colliculus, showed a significantly delayed latency (1 msec). I-III and I-V segments were also significantly prolonged. The pendular eye tracking test and the optokinetic nystagmus were normal, thus indicating the integrity of the visual oculomotor reflex pathways; no spontaneous nystagmus was recorded at electronystagmography except a type 1 nystagmus in the dark on extreme lateral gaze. Damped pendular stimulation was almost normal for age. Other investigations. The skull radiography showed a clear increase of the mandibular angle. A cerebral CT scan showed no pathological masses or alterations of the parenchymal density of the encephalic structures, particularly the bulbar and mesencephalic ones. The IQ was 120 (WISE). All the other examinations were normal. Discussion
The distinctive features of the case are: 1 - - Extremely early onset, the first symptoms of bulbar lesion appearing in the immediate post-partum period, suggesting that the disease had begun in the prenatal period. 2 - - Very slow evolution. 3 - - Lesion of the motor nuclei of V, VII, IX and
Fig. 2. Patient's brain stem audiometry compared
with reference values of our laboratory (range). The control group is composed of 43 healthy subjects free from otopathies andcentral nervous system diseases, between the ages of 6-40 (ruled spaces). XII cranial nerves in the absence of clinical and instrumental data of spinal neuron damage. 4 - - Presence of damage in the acoustic brain stem pathway, documented by the altered BSEARs. 5 - - Absence of familiarity. The features of the case repeat those of FazioLonde's (F-L) juvenile progressive bulbar syndrome, with some important variants. In fact, even if the early onset is typical of that syndrome, there are no cases in the literature with unequivocal onset before birth. Such early development is on the contrary frequent in Werdning-Hoffmarm (W-H) disease  where, although the distribution is different, the characteristics of the anatomo-pathological lesions are the same . Besides, slow evolution is not typical of the F-L syndrome. The patients in the cases reported [10,3,8] died very soon (within a few months or years) of respiratory complications, very often linked with paralysis of the laryngeal muscles. These muscles were not involved in the present case. A slower evolution is described in the cases of juvenile chronic bulbar paralysis with deafness (Van Laere syndrome), where symptoms arise in the second or third stage of infancy, sometimes with survival until the third or fourth decade of life [15,2]. Some authors [2,5] consider this syndrome to be an autonomous entity because there is no familiality. 109
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N o nuclear lesion of the VIII cranial nerve has been evidenced in the cases of the Fazio-Londe syndrome recorded in the literature with neuropathological examination [ 10,3,8]. On the other hand, in our case, the electrophysiological data proved damage of the brainstem acoustic pathways, without heating deficits, in the presence of a lesion strictly confined to some motor nuclei of the brain stem. We think therefore that this case supports the thesis of those authors [10;3;4] who do not consider the two forms as autonomous entities but as variants "in a wide spectrum of sub-acute or chronic multiple system atrophies, with a predilection for certain parts of the motor system"  and with a tendency to occur early in infancy. In addition we think that this pathology must be considered in continuum with systemic motor neuron pathology in young men and adults. Actually, nuclear degenerative processes of the cranial nerves have been reported in most cases of W - H syndrome subjected to neuro-pathological control [13,7]. In one of the ten cases examined by Thieffry et al.  nuclear degenerative processes were also reported in the VIII cranial nerve. N a m b a et al.  found signs of a lesion
in the bulbar nuclei in 17% of cases of WohlfartKugelberg-Welander syndrome. Alajouanine et al.  in an investigation on 42 cases of amyotrophic lateral sclerosis (A.L.S.) found paralysis of the glottis dilator muscles in 16 (38%). Van Bogaert  described a F-L disease which developed to A.L.S. In our patient, the motor neuron pathology appeared to be strictly confined to brain stem without clinical or instrumental signs of lesion either in spinal motor neurons or in other neuronal systems, except for the auditory pathways. Besides, lesion of the lower motor neuron has often been found in cases of progressive bulbar paralysis in children, with and without deafness [10,3,2,11], and cases of motor neuron disease in adults  showed the combined lesions of other neuronal systems. As to the possible genesis of that disease, the absence of familiality (isolated cases are reported in F-L  as well as in Van Laere  syndrome) does not exclude the possibility of autosomal recessive transmission or of genetic predisposition to the disease, as supposed in the genesis of spinal muscular atrophies .
Sommario Viene presentato un caso di paralisi bulbare progressiva osservata in una bambina di 9 anni. I primi sintomi si sono manifestati gid immediatamente dopo la nascita e la successiva evoluzione b stata molto lenta. La lesione dei nuclei motori del V, VII, IX, X I I nervo cranico depone per una malattia di Fazio-Londe," tuttavia le alterazioni riscontrate a carico delle vie acustiche troncoencefaliche richiamano la sindrome di Van Laere. Non appaiono essere danneggiati altri sistemi neuronali. Tali reperti appaiono essere a sostegno delle tesi di quegli Autori che considerano la malattia del neurone di moto nell'infanzia non come entitdt autonoma ma come ulteriore variante nell'ampio spettro delle malattie progressive del neurone.
Address reprint requests to: Dr. Gianfranco Perticoni Servizio di Neurofisiopatologia, Via E. dal Pozzo 95, 06100 Perugia
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Perticoni: Progressive bulbarparalysis in childhood
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