|Year : 2014 | Volume
| Issue : 2 | Page : 138-140
Möbius syndrome associated with acyanotic congenital heart disease in a neonate
Department of Pediatrics, Jawaharlal Nehru Medical College, Sawangi Meghe, Wardha, Maharashtra, India
|Date of Web Publication||11-Aug-2014|
Department of Pediatrics, Jawaharlal Nehru Medical College, Sawangi Meghe, Wardha, Maharashtra - 442 102
Source of Support: None, Conflict of Interest: None
The Möbius syndrome is rare and the cause is still unclear. We present here a case of a newborn baby with the Möbius syndrome, showing unilateral facial nerve palsy with asymmetrical facial expression, poor sucking, dysphagia, and ear abnormality. Though cardiac anomalies are very rare our case had atrial septal defect and a tiny patent ductus arteriosus in patient of Möbius syndrome.
Keywords: Congenital heart disease, ear deformity, facial dysmorphism, facial palsy
|How to cite this article:|
Taksande A. Möbius syndrome associated with acyanotic congenital heart disease in a neonate
. J Mahatma Gandhi Inst Med Sci 2014;19:138-40
| Introduction|| |
The Möbius syndrome typically consists of bilateral facial and abducens palsies caused by the absence or hypoplasia of the cranial nerve nuclei. In some cases there is involvement of other cranial nerves.  Von Graefe described a case of congenital facial diplegia in 1880; the syndrome was reviewed and defined further by Möbius in 1888 and 1892. The definition and diagnostic criteria for the Möbius syndrome vary among authors. Both Von Graefe and Möbius accepted only cases with both congenital facial diplegia and bilateral abducens nerve palsies as constituting the Möbius syndrome.  In 1939, Henderson broadened the definition and included cases with congenital unilateral facial palsy.  The cause is unknown, whether the primary defect is maldevelopment of cranial nerve nuclei, hypoplasia of the muscles or a combination of central and peripheral factors.  Cardiovascular defects, though described, are rarely associated with this syndrome.  Here, we report a case of the Möbius syndrome with a congenital cardiac defect.
| Case Report|| |
A two-day-old male child, born of a non-consanguineous marriage, presented with facial asymmetry and was not sucking well. The child was born by vaginal delivery at home, which was conducted by a local 'dai', with a birth weight of approximately 2.5 kg, without birth asphyxia. The neonate had dysmorphic facies like low set ear, epicanthal fold, micrognathia, and a hypoplastic right side of the face. The right ear was malformed with a stenosed external auditory meatus, and the lobule and antihelix were absent. The left ear pinna was small and deformed. The deviation of the angle of the mouth to the left side, right-sided microphthalmia, with a small palpabral fissure, and right lateral rectus palsy were present. Bilateral rocker bottom feet were present. On genital examination, a micropenis was present. The child had a systolic murmur, grade 3/6, in the second and third left intercostal space, parasternally. The respiratory examination, abdominal examination, and central nervous system were normal. On investigation, hemoglobin was 15 gm%, total leukocyte count (TLC) was 6,000 / cumm, and a peripheral smear showed normocytic, normochromic red blood cells (RBCs). The SpO2 was 94%. An x-ray of the chest showed cardiomegaly with a cardiothoracic (CT) ratio of 0.6, the electrocardiogram (EKG) showed sinus rhythm, and 2-D-echocardiography showed a moderate-sized (5 mm) ostium secundum type of atrial septal defect (ASD), with a left-to-right shunt, with a tiny patent ductus arteriosus. A computed tomography (CT) scan of the brain was normal. Serological tests for Toxoplasma, Other viruses, Rubella, Cytomegalovirus, Herpes virus (TORCH) and blood and urine cultures were all negative. The Möbius syndrome was diagnosed on the basis of right VII facial nerve palsy, right VI nerve palsy, ear anomalies, and acyanotic congenital heart disease.
| Discussion|| |
The Möbius syndrome, a rare disorder of unknown etiology, presents with mask-like facies, and may be associated with a squint, tongue hypoplasia, swallowing difficulties, and orofacial and limb abnormalities.  It is not known whether the Möbius syndrome is a result of the abnormal differentiation of either mesodermal or ectodermal structures, an abnormality of cellular migration, or proliferation or programmed cell death or whether it is an effect of the early regression of parts of the brain stem arterial supply.  Bavinck et al.,  have reported that Poland, Klippel-Feil, and Möbius anomalies are the result of an interruption of the early embryonic blood supply in the subclavian arteries, the vertebral arteries, and their branches, and hypothesize that the occlusions occur at specific locations in these vessels during or around the sixth week of embryological development, and produce predictable patterns of defects.  Numerous theories exist concerning the primary underlying pathogenesis. Möbius believed that the condition was degenerative or toxic in origin and that it involved the nuclei of the affected nerves. Gestational factors such as trauma, illness, and the intake of various drugs, particularly thalidomide, benzodiazepines, and cocaine have been noted in literature ,, Towfighi et al.,  have proposed a classification based on the pathological differences observed in the studies of patients with the Möbius syndrome.
They are as follows:
Group I - Simple hypoplasia or atrophy of the cranial nerve nuclei
Group II - Primary lesions in the peripheral cranial nerves
Group III - Focal necrosis in the brain stem nuclei
Group IV - Primary myopathy with no central nervous system (CNS) or cranial-nerve lesions
Clinical feature of the Möbius syndrome have been compiled by Volpe and include, severe facial diplegia (100%), bilateral abducens palsy (82%), total external ophthalmoplegia (25%), oculomotor palsy (21%), bilateral ptosis (10%), tongue weakness (30%), talipes equinovarus (31%), hand-and-arm malformation (21%), and pectoralis malformation (13%).  Facial nerve palsy is usually bilateral and incomplete, involving either the upper or the lower portion of the face. Involvement of the hypoglossal nerves often leads to atrophy of the tongue. Patients may be unable to protrude their tongue beyond their lips because of weakness. Bilateral epicanthus has been reported, as also scattered instances of ear deformities (usually bilateral and confined to the lobe). Association of the Möbius syndrome with anosmia and hypogonadotrophic hypogonadism (Kallmann syndrome) or with hypogonadism alone has been reported.  Gillberg and Steffenburg (1989) described autistic symptoms in 30-40% of children and young adults with the Möbius syndrome.  Musculoskeletal abnormalities occur in one-third or more of patients with the Möbius syndrome. These anomalies may include talipes equinovarus, brachydactyly, syndactyly, congenital amputations, arthrogryposis, smallness of limbs, and occasionally hypoplasia or absence of the pectoralis major muscles (Poland anomaly).  Severe brain stem compromise, if present, can cause dysphagia, aspiration, and an inability to protect the airway, which may lead to death at a young age. The cardiac anomalies described previously in the Möbius syndrome are plain dextrocardia, dextrocardia with a ventricular septal defect, transposition of great vessels, ventricular septal defect, and a total anomalous of the pulmonary venous connection.  In our patient, we diagnosed the Möbius syndrome to be associated with atrial septal defect and tiny patent ductus arteriosus.
| Conclusion|| |
The Möbius syndrome is congenital and nonprogressive. However, no definitive treatment exists and it is predominantly management of the associated defects and essentially multidisciplinary. Special attention should be paid to problems of parental bonding and family care disturbance, due to lack of feedback from the child by smiling or visual following. To date, medical care is supportive and symptomatic. Neuropsychological and intelligence testing are helpful in predicting and assisting the possible learning deficiencies, autism or various visual apraxias.
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