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Re: Message

Gonzalo wrote:
>
> I would like opinions on how to approach an infant born with
> orbicularis oris atrophy.  This particular case is now three months
> old and the deviation of the corner of the mouth remains unchanged.
>
> I doubt  the possibility I am dealing with facial palsy as the
> findings are totally localized in the area defined.  Eyelids, tongue,
> etc. appear to move normally.
>
> Any suggested workup and differential diagnoses is appreciated.
>
> Needless to say the birth history is totally benign.
> Gonzalo Mantilla Jr., MD.
> Oficina del Decano
> USFQ Colegio de Ciencias de la Salud
> 

Maybe the following can be of some help:

Title
     Morphology of denervated human facial muscles.
Author
     Schwarting_S; Schröder_M; Stennert_E; Goebel_HH
Source
     ORL J Otorhinolaryngol Relat Spec, 1984, 46:5, 248-56
Abstract
     17 biopsies of denervated facial muscles, the zygomatic, the
orbicularis oris and the levator labii
     muscles, showed atrophic myofibers in most cases. There was loss of
fiber typability when applying
     the NADH, the MAG and the alkaline ATPase reactions. The acid
ATPase preparations allowed
     differentiation of myofibers into type I and type II without
subtypes. Contrary to normal facial
     muscles that are richly endowed with motor endplates, no
neuromuscular junctions were observed in
     denervated muscle fibers except one example which might have been
obtained by false sampling from
     the marginal area of denervation or might be the result of partial
reinnervation due to sprouting axons
     from the neighborhood. There was no correlation between the degree
of muscle fiber atrophy and the
     duration of the paralysis. However, fibrosis corresponded to length
of denervation. The presence of
     highly atrophic muscle fibers even 36 years after denervation
indicates that the final aim of facial nerve
     surgery, namely the reinnervation of denervated facial musculature
may still be achievable. However,
     endomysial and perimysial fibrosis may have a considerable impact
on the final outcome of such facial
     nerve surgery. Unsatisfactory correlation between morphological and
clinical as well as
     electromyographical findings in denervated facial muscles requires
individual morphological study of
     each biopsy to assess the probable outcome of reconstructive facial
nerve surgery. It therefore
     appears reasonable even in long-standing facial paralysis, to
biopsy denervated facial muscles before
     or during surgical reanastomosation of the facial nerve. This study
provides hints that morphological
     examination of denervated facial muscles may supplement clinical,
electrophysiological, and possibly
     biochemical diagnostic findings.
Language of Publication
     English
Unique Identifier
     85013697

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Title
     Facial action myoclonus in patients with olivopontocerebellar
atrophy.
Author
     Lou_JS; Valls-Solé_J; Toro_C; Hallett_M
Address
     Human Motor Control Section, National Institute of Neurological
Disorders and Stroke, National
     Institutes of Health, Bethesda, Maryland 20892.
Source
     Mov Disord, 1994 Mar, 9:2, 223-6
Abstract
     We studied four patients with familial olivopontocerebellar atrophy
(OPCA) who had abnormal
     twitching of the cheeks and perioral muscles induced by facial
movements. With the muscles at rest,
     electromyographic (EMG) recordings of the orbicularis oris and
risorius muscles revealed myokymic
     discharges in the absence of visible movements. With voluntary
contraction, the EMG showed
     synchronous discharges in the orbicularis oris and risorius muscles
ipsilaterally associated with visible
     twitching. The duration of the EMG bursts was 10 to 75 ms with a
frequency of 8 to 25 Hz, which
     suggested that the abnormal twitching was most consistent with a
myoclonic disorder. Because it was
     induced by activation of the facial muscles, this movement disorder
represents a form of action
     myoclonus.
Title
     Brainstem reflexes in patients with olivopontocerebellar atrophy.
Author
     Valls-Solé_J; Lou_JS; Hallett_M
Address
     Human Motor Control Section, National Institute of Neurological
Disorders and Stroke, National
     Institutes of Health, Bethesda, Maryland.
Source
     Muscle Nerve, 1994 Dec, 17:12, 1439-48
Abstract
     In 4 patients with familial olivopontocerebellar atrophy (OPCA) we
have recently described an
     abnormal movement of facial muscles characterized by rhythmic
muscle twitching during voluntary
     activation (facial action myoclonus). In the present article, we
present the results of a
     neurophysiological study of brainstem reflexes in those 4 patients,
in 4 other patients with OPCA but
     without facial action myoclonus, in 3 patients with pure cerebellar
cortical atrophy, and in 6 normal
     volunteers used as control subjects. All patients had similar
clinical features, but only the patients with
     facial action myoclonus and only one of the other patients with
OPCA had brainstem atrophy
     detected on magnetic resonance imaging. Electrophysiological
abnormalities were found in all patients
     with facial action myoclonus and consisted of myokymia in perioral
muscles at rest, spread of
     spontaneous and reflex blinking to the orbicularis oris, and
enhanced long-latency facial reflex
     responses to stimuli applied to the facial or trigeminal nerve.
Other relevant electrophysiological
     abnormalities were the absence of jaw jerk in 2 patients, the
absence of an R1 response of the blink
     reflex in 1 patient, and a markedly reduced compound muscle action
potential of the facial nerve in
     another patient. Comparable electrophysiological abnormalities were
found in only 1 of the patients
     with OPCA but without facial action myoclonus, and in none of the
patients with pure cerebellar
     cortical atrophy. Facial action myoclonus is a clinical
manifestation of a global brainstem functional
     derangement that may characterize a subgroup of patients with OPCA
or constitute a distinctive step
     in the natural evolution of some forms of the disease.
Language of Publication
     English
Unique Identifier
     95059191