Moebius Syndrome: A Case Report
Singh P1, Gupta
SB2, Kumar R3, Agarwal R4, Singh DP5, Verma D6
1Dr Priti Singh, Assistant Professor, Department of ophthalmology, 2Dr
S B Gupta, Professor & Dean, Department of ophthalmology, 3Dr
Rashmi Kumar, Assistant Professor, Department of ophthalmology, 4Dr
Rahul Agarwal, Associate Professor, Department of ophthalmology, 5Dr D
P Singh, Associate professor, department of medicine, 6Dr Divya Verma,
Senior Resident, Department of ophthalmology. All are affiliated with L
N Medical College, Bhopal, MP, India
Address for
correspondence: Dr Priti Singh, Email:
singh_priti2178@yahoo.com
Abstract
Moebius syndrome consists of congenital, complete or partial facial
nerve palsy with or without paralysis of other cranial nerves (most
commonly an abducens paralysis) and often associated with other
malformations of the limbs and orofacial structures. In this case, a
ten days old male child with moebius syndrome is presented, clinical
findings are described and management aspects are discussed.
Key words:
Congenital, Paralysis, Cranial Nerves
Manuscript received:
04th Sep 2014, Reviewed:
15th Sep 2014
Author Corrected:
20th Sep 2014, Accepted
for Publication: 29th Sep 2014
Introduction
Paul Julius Moebius, a German neurologist, in 1892 described a clinical
entity of bilateral combined palsies of the 6th and the 7th cranial
nerves that subsequently carried his name [1]. Though the first
description of congenital facial diplegia was given by Von Graefe in
1880[2]. Moebius Syndrome is congenital non-progressive complete or
partial, unilateral or bilateral facial nerve palsy with or without
paralysis of other cranial nerves (III, V, VI, IX, X) and physical
abnormalities such as multiple limb malformations (syndactyly ,
brachydactyly , or absent digits and talipes) [3]. The most obvious
symptoms of this syndrome include a loss of facial expression and
jeopardized functions of the stomatognathic complex [3]. Ocular
presentations include restricted lateral eye movements, ptosis,
nystagmus, strabismus, conjunctivitis and inability to close the
eyelids [3]. Mental retardation is probably over diagnosed owing to mask-like
facies, drooling of saliva, strabismus and speech difficulties. In one
study mild to moderated mental retardation is known to occur in 10% of
the cases [4] while in other moderate to severe mental deficiency was
said to be present in at least half of the children with clinical
features of moebius syndrome [5]. The purpose of this report is to
describe a rare clinical case of moebius syndrome.
Case
Report
A ten days old male patient who was born full term at 38 weeks with
intrauterine growth retardation (IUGR) came to hospital with abnormal
facial expression. The parents were unrelated and young and healthy at
the time of conception. There was no history of maternal drug intake.
The infant was brought to the pediatricians with the complaints of a
restricted mouth opening and an expressionless face. There was
incomplete closure of the left eyelids during sleep and drooling of
saliva. Generalised hypotonia was seen, muscle tone was being more
decreased around the shoulders than in the lower extremities. No clonus
was elicited. Limb malformations were not obvious although minor
syndactyly was present. His right upper limb appeared to be hypoplastic
with fourth partial syndactyly.
Fig 1 and 2: Photographs
of the infant showing some of the dysmorphic features (Inability to
close left eye , expression less face)
Discussion
The etiology of this syndrome was considered to be a congenital absence
of the motor nuclei of abducens and facial nerves, but genetic and
environmental factors can also be involved. Moebius in his original
description of the condition postulated that the anomaly resulted from
degeneration of the nuclei of the sixth and seventh cranial nerves
[6,7]. Heubner [8] suggested nuclear agenesis or hypoplasia as the
chief underlying cause of moebius syndrome, which is supported by
others [9]. Exposure to infections, alcohol, cocaine, thalidomide or
misoprostol was also related in association with moebius syndrome [10].
It was found in most cases that this syndrome is because of the
infarction of brain stem nuclei during fetal life [10].
The pathogenesis of cranial nerve palsies associated with limb
anomalies is difficult to explain. An ischemic process resulting from
an interruption in the vascular supply during early fetal development,
around four to six weeks of gestation, may result in facial and limb
anomalies characteristic of moebius syndrome [2]. The hypothesis is
supported by the report of moebius – like facies resulting
from damage to the tegmentum of the midbrain secondary to basilar
artery thrombosis, possibly related to birth trauma [2]. Another
explanation for cranial nerve dysfunction and limb anomalies may be a
primary metameric defect in the brain stem nuclei and somite mesoderm
of the limb buds. The occurrence of Poland’s anomaly in
moebius syndrome is probably related to a common pathogenetic
mechanism. Poland’s anomaly is believed to result from a
restricted defect in the metamerisation process of the somite mesoderm
[2]. As far as genetics is concerned, most of the reported cases have
been sporadic and both sexes are affected with equal frequency. There
are no prevalence figures and the exact population incidence is not
known. Pedigrees with an autosomal dominant, autosomal recessive and
X-linked recessive inheritance pattern have been described [11].
Criteria for Diagnosis
[2]:
1. Complete or partial 7th nerve
paralysis – essential for diagnosis.
2. Limb malformations (syndactyly,
brachydactyly or absent digits, and talipes) are often present.
3. Some additional features may also be
present:
a) Bilateral or unilateral ocular nerve
palsies (commonly of 6th nerve).
b) Hypoplasia of tongue due to palsy of
12th nerve.
c) Swallowing and speech difficulties due
to 5th, 9th and 10th nerve palsies.
d) Malformations of oro-facial structures
(bifid uvula, micrognathia and ear deformities).
e) Other anomalies of the musculoskeletal
system like rib defects, absence of pectoralis major muscle (Poland
anomaly) [3].
Moebius Syndrome is a condition which deprives people of the capacity
to project their emotions through facial expressions. The lack of
facial expressivity might lead to a decrease in the parental bonding
[12]. A patient of moebius syndrome starts suffering from first day of
his/her life with difficulty in sucking milk being the first sign.
These children require a multidisciplinary case and support and also
the parental co-operation. Feeding difficulties and problems of
aspiration often lead to failure to thrive during infancy [10]. Feeding
tubes or special feeding bottles can be used for nursing to avoid
swallowing and choking problems. Because of expression less face child
may face & inability to convey reactions of joy or sorrow to
her family and friends which ultimately may become a leading cause of
his being interrupted as a mentally retarded child. Thus psychological
management and motivation should form the mainstay of our treatment for
such children as they grow. Moreover genetic counseling of the parents
should be done explaining them the possible pathogenesis, natural
history of the disease and supportive measures for long term
rehabilitation. The treatment of patients with moebius syndrome is
directed toward the restoration of motion secondary to the facial nerve
palsy.This involves reconstructive plastic surgery with muscle
transplantation ideally performed in patients just before they reach
school age at 4 or 5 years.
Funding:
Nil
Conflict of interest:
Nil
Permission from IRB:
Yes
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How to cite this article?
Singh P, Gupta SB, Kumar R, Agarwal R, Singh DP, Verma D. Moebius
Syndrome: A Case Report. Int J Med Res Rev 2014;2(6):624- 626.doi:10.17511/ijmrr.2014.i06.019