|
 |
|
CASE REPORT |
|
|
|
| Year : 2015 | Volume
: 10
| Issue : 2 | Page : 172-174 |
| |
Möbius syndrome associated with neurofibromatosis Type 1: A rare co-occurrence
Ankush Sharma1, Nitin Gupta2, Tejinder Talwar2, Munish Gupta2
1 Department of Neurology, M.M.I.M.S.R, Mullana, Ambala, Haryana, India
2 Department of Medicine, M.M.I.M.S.R, Mullana, Ambala, Haryana, India
| Date of Web Publication | 22-Jun-2015 |
Correspondence Address:
Ankush Sharma
Department of Neurology, M.M.I.M.S.R, Mullana, Ambala, Haryana
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/1817-1745.159205
 Abstract | | |
Möbius syndrome is a rare congenital disorder presenting with facial diplegia and horizontal gaze disturbance. Patients can have additional cranial nerve palsies and musculoskeletal deformities. Neurofibromatosis Type 1 is an uncommon neurocutaneous disorder. The only plausible link between these two disorders is autosomal dominant pattern of inheritance. Simultaneous occurrence of these two uncommon disorders has not been yet reported in literature, and it is the first case report to the best of our knowledge.
Keywords: Horizontal gaze palsy, Mφbius syndrome, neurofibromatosis Type 1
How to cite this article:
Sharma A, Gupta N, Talwar T, Gupta M. Möbius syndrome associated with neurofibromatosis Type 1: A rare co-occurrence
. J Pediatr Neurosci 2015;10:172-4 |
| Introduction | |  |
Möbius syndrome is a rare congenital disorder and was first reported in 1888. Patients with Möbius syndrome have facial diplegia, horizontal gaze disturbance and may have additional cranial nerve palsies. Neurofibromatosis Type 1 (NF1) or von Recklinghausen disease is the most common neurocutaneous syndrome, occurring nearly in 1 in 3500 people. NF1 is characterized by the development of multiple café-au-lait spots, neurofibromas and axillary freckling. To the best of our knowledge, this rare concurrent occurrence of Möbius and NF1 has not been yet reported in literature.
| Case Report | | |
An 11-year-old boy presented to us with inward deviation of both eyes since birth and incomplete closure of eyelids during sleep. There was no history of diplopia, dysarthria or dysphagia. He was first in birth order, born out of nonconsanguineous marriage with normal developmental milestones. There was no history suggestive of birth asphyxia. No history of intake of any drugs during pregnancy by the mother except for iron and folic acid tablets. His father had multiple café-au-lait spots, axillary/inguinal freckling and hypertension. His other two siblings were normal. His physical examination showed multiple café-au-lait spots [Figure 1]a-c and axillary freckling. The patient didn't have Lisch nodules or any musculoskeletal abnormalities. Neurologic examination revealed bilaterally normal fundi, bilaterally medially deviated eye balls, facial diplegia and tongue atrophy [Figure 2]a and b. Rest of the cranial nerves were normal. His motor and sensory systems examination were within normal limits. His cranial magnetic resonance imaging didn't show any abnormality of brainstem [Figure 3]. | Figure 2: Bilaterally medially deviated eyeballs (a), and tongue atrophy (b)
Click here to view |
 | Figure 3: Cranial magnetic resonance imaging (a) Axial T2, (b) Axial FLAIR, (c) Sagittal T1 showing normal brainstem
Click here to view |
| Discussion | | |
Möbius syndrome is a rare congenital disorder and was first reported in 1888 by Paul Julius Möbius. The definition was extended by Henderson who also included patients with congenital unilateral facial palsy. [1] Patients with Möbius syndrome have facial diplegia, horizontal gaze disturbance and may have additional cranial nerve palsies. Möbius syndrome results from an underdevelopment of VI and VII cranial nerves. People with Möbius syndrome are born with facial paralysis and inability to move their eyes laterally. Multiple cranial nerves can get affected with cranial nerves VI, VII, and XII being affected more commonly. It has been estimated that the incidence of Möbius syndrome would be between 2 and 20 per million live births. [2] Most of the cases are sporadic, but afew cases with autosomal dominant, autosomal recessive, and X-linked recessive inheritance pattern have also been reported. [3],[4],[5],[6] It is an uncommon disorder with many unanswered questions regarding its etiology and pathogenesis. It has been associated with multifactorial causative factors including vascular compromise in the brain during prenatal period and agenesis or hypoplasia of the cranial nerve nuclei during the process of fetal development. [7] A higher frequency of occurrence is seen with the use of cocaine, thalidomide and prostaglandins during pregnancy. [8]
In our patient in addition to Möbius syndrome, he also had NF1 meeting diagnostic criteria. NF1 is known as von Recklinghausen disease. It has autosomal dominant inheritance with complete penetrance and variable expression. It has an incidence of 1 in 3500 live births. Diagnostic criteria include neurofibromas, café-au-lait spots, skinfold freckling, skeletal dysplasia, lisch nodules, and optic gliomas.
Both, NF1 and Möbius syndromes are uncommon disorders. The only common thread linking the two is an autosomal dominant pattern of inheritance. To the best of our knowledge, it is a rare co-occurrence of two rare and varied disorders.
| References | | |
| 1. | Henderson J. The congenital facial diplegia syndrome clinical features, pathology and aetiology. Brain 1939;62:381-403.  |
| 2. | Kuklík M. Poland-Möbius syndrome and disruption spectrum affecting the face and extremities: A review paper and presentation of five cases. Acta Chir Plast 2000;42:95-103. |
| 3. | Strömland K, Sjögreen L, Miller M, Gillberg C, Wentz E, Johansson M, et al. Mobius sequence - A Swedish multidiscipline study. Eur J Paediatr Neurol 2002;6:35-45. |
| 4. | McKusick VA. Mendelian inheritance in man: Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. 8 th edition. Ann Intern Med 1988;109:687. |
| 5. | Baraitser M. Genetics of Möbius syndrome. J Med Genet 1977;14:415-7. |
| 6. | Kremer H, Kuyt LP, van den Helm B, van Reen M, Leunissen JA, Hamel BC, et al. Localization of a gene for Möbius syndrome to chromosome 3q by linkage analysis in a Dutch family. Hum Mol Genet 1996;5:1367-71. |
| 7. | Briegel W. Neuropsychiatric findings of Möbius sequence - A review. Clin Genet 2006;70:91-7. |
| 8. | Puvabanditsin S, Garrow E, Augustin G, Titapiwatanakul R, Kuniyoshi KM. Poland-Möbius syndrome and cocaine abuse: A relook at vascular etiology. Pediatr Neurol 2005;32:285-7. |
[Figure 1], [Figure 2], [Figure 3]
| This article has been cited by | | 1 |
Möbius syndrome with cardiac rhabdomyomas |
|
| Aimee Verner, Swati Agarwal-Sinha, Frank Yanfeng Han | | Ophthalmic Genetics. 2018; 39(3): 373 | | [Pubmed] | [DOI] | |
|
|
|
|
