| Many investigators have demonstrated that poor readers exhibit abnormal eye movements during reading. An association between defective vergence, accommodation, and poor reading skills has also been noted by some investigators. Children who are poor readers have been subjected to therapeutic interventions on the basis of the assumption that improving their eye movements, as part of a multifaceted program of "vision therapy," will yield commensurate improvement in reading performance. This approach has been controversial, and other authors have expressed opposing views. We report the ophthalmologic and reading assessments of two children with Mobius' syndrome who were average to above-average readers despite essentially absent horizontal eye movements. ( info) |
2/40. Segmental facial myoclonus in moebius syndrome. Moebius syndrome is characterized by sixth and seventh nerve palsy and is usually the result of bilateral hypoplasia or aplasia of the respective brain stem nuclei. There have been no reports of involuntary facial movements associated with this malformative complex. We report on a 6-year-old boy affected by Moebius syndrome with asymmetric involvement and segmental facial myoclonus with onset at age 2 years, affecting the side with partially conserved motility. Clinical presentation included congenital peripheral palsy of the right seventh cranial nerve and left-sided rhythmic rising of the upper lip and eyebrow. Surface-electromyography (EMG) of the left levator labii and frontalis muscles showed rhythmic bursting (duration: 150-450 ms; frequency: 1-3 Hz). Electroencephalographic (EEG)-polygraphic recordings and burst-locked EEG averaging failed to show any consistent EEG activity preceding the EMG bursts. Study of the blink reflex, somatosensory and motor-evoked potentials showed findings consistent with pontine pathology. Segmental facial myoclonus, although extremely rare in children, must be differentiated from several other paroxysmal motor manifestations associated with structural lesions involving the brain stem. Segmental facial myoclonus stem-Structural lesion. ( info) |
| mobius syndrome is a congenital disorder of facial diplegia associated with lateral gaze paralysis. Although palsy of the sixth and seventh cranial nerves is the minimum diagnostic finding for mobius syndrome, neuropathologic evidence indicates that this is a more complex syndrome.(1) Clinically, it is characterized by a total absence of facial expression and severe esotropia. Other anomalies may be associated with this syndrome, especially other cranial nerve palsies and poland syndrome. The etiology of this syndrome has not been clearly established. brain stem necrosis resulting from a vascular deficiency has been offered as a possible pathogenetic explanation.(2) The strabismus in mobius syndrome is congenital esotropia with bilateral limitation in abduction. Even though many reports have described the various features of mobius syndrome, only a few articles have reported the results of strabismus surgery in children, including bimedial rectus muscle recession. (3-5) Some authors report that bilateral medial rectus muscle recession alone has been disappointing; therefore, a combination of a medial rectus muscle recession and a lateral rectus muscle resection was recommended for satisfactory results. (5-7) In more severe cases, muscle transposition was needed to ensure straight position of the eyes in primary gaze. (8-9) ( info) |
| A patient with generalized inflammatory polyneuropathy and facial diplegia was studied with magnetic resonance imaging. Multiple cranial nerves showed signal enhancement without sensory or motor dysfunction. ( info) |
| This report describes the case of a patient with congenital bilateral facial paralysis in whom ectopic bone formation developed following temporal muscle transposition. Ectopic bone formation was first noticed 4 years after surgery. Whether the ossification is a result of the transfer of periosteum or the osteogenic capacity of muscular tissue is still unknown. ( info) |
6/40. Poland-mobius syndrome and disruption spectrum affecting the face and extremities: a review paper and presentation of five cases. The author summarizes hitherto assembled experience with the clinical and genetic characteristics of Poland's and mobius syndrome. Five selected case-records with this disease and the sequence of the Poland-mobius syndrome are presented. Another case-record is devoted to an allied syndrome, hypoglossia-hypodactyly, found in a spontaneously aborted fetus. For establishment of a more accurate symptomatology, an irreplaceable place is held by anthropometric examination; for objectifying the asymmetry of the chest the so-called cyrtogram, the chest circumference recorded by means of a wire, is valuable. From the aspect of genetic counseling, preconception care is always provided to mothers from families with reproductive intentions, as well as ultrasonographic examination of the fetus in areas of assumed acral symptomatology (signaling phenotype). In two families ultrasonography was used for prenatal diagnosis. Invasive prenatal diagnosis by amniocentesis was employed in a family with mobius syndrome. In these families dermatoglyphs have certain common characteristics, such a tendency towards simple patterns. In the wider family of one of our patients we detected in a cousin Parkes-Weber-Klippel-Trenaunay's syndrome, which may indicate common vascular predisposing factors. ( info) |
7/40. MRI findings in mobius syndrome: correlation with clinical features. The authors studied the MRI findings of three patients with mobius syndrome. mobius syndrome is a rare congenital disorder characterized by complete or partial facial diplegia accompanied by other cranial nerve palsies. MRI demonstrated brainstem hypoplasia with straightening of the fourth ventricle floor, indicating an absence of the facial colliculus. These MRI features suggest the diagnosis of mobius syndrome and correlate with the clinical and neurophysiologic findings. ( info) |
8/40. Poland-Moebius syndrome: a case report. BACKGROUND: The primary site of pathology in Moebius syndrome is still unknown, although several studies have variably localized the lesion in the extraocular muscles, cranial nerves, or central nervous system. CASE: A 24-year-old man with Poland-Moebius syndrome and acquired progressive bilateral paralytic lower eyelid ectropion is described. OBSERVATIONS: In this patient, magnetic resonance imaging studies revealed a barely detectable pontine hypoplasia and normal recti muscles. Nerve conduction studies of the facial nerves showed a severe demyelinating or dysmyelinating type of neuropathy. Bilateral lower eyelid ectropium of the patient was successfully corrected by canthal tightening procedures. CONCLUSION: Contrary to many reported cases, this patient serves as a rare example of a progressive type of Poland-Moebius syndrome presumably resulting from a combination of a brainstem abnormality and a peripheral neural degenerative process. ( info) |
| A woman presented at 33 weeks gestation with reduced fetal movements and a nonreactive nonstress test. Fetal ultrasound examination revealed a peculiar unilateral arm tremor. At emergency cesarean section, performed for fetal indications, a 1,672-gm male infant was delivered requiring intubation for feeble respiratory effort. After delivery the neonate was transiently hypertonic and later hypotonic. Continuing ventilatory support at minimal settings was necessary. The work-up for aneuploidy, metabolic disorders, and infection was negative. The infant died after being removed from ventilatory support on day 22. Postmortem examination revealed extensive bilateral brain gliosis and mineralization without evidence of inflammation, partial absence of cranial nerve nuclei III-XI, and a total absence of cranial nerve roots VI-XI. Together these finding are compatible with a diagnosis of expanded mobius syndrome. ( info) |
10/40. mobius syndrome associated with ventricular septal defect. We report a 10-year-old boy with mobius syndrome (MS) associated with ventricular septal defect who was delivered after an unsuccessful curettage before the 10th week of gestation. Methylergobasine which is an ergot alkaloid was also applied during the curettage procedure. Despite of the curettage procedure, the pregnancy was continued and he was delivered. His developmental milestones were delayed. On account of this case, we think that direct mechanical fetal trauma and vasoconstriction or both may cause MS. But, further extensive studies are needed to verify this hypothesis. ( info) |