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Möbius syndrome associated with neurofibromatosis Type 1: A rare co-occurrence.

Sharma A, Gupta N, Talwar T, Gupta M - J Pediatr Neurosci (2015 Apr-Jun)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology, M.M.I.M.S.R, Mullana, Ambala, Haryana, India.

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.

No MeSH data available.


Related in: MedlinePlus

Cranial magnetic resonance imaging (a) Axial T2, (b) Axial FLAIR, (c) Sagittal T1 showing normal brainstem
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Figure 3: Cranial magnetic resonance imaging (a) Axial T2, (b) Axial FLAIR, (c) Sagittal T1 showing normal brainstem

Mentions: 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 1a–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 2a 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].


Möbius syndrome associated with neurofibromatosis Type 1: A rare co-occurrence.

Sharma A, Gupta N, Talwar T, Gupta M - J Pediatr Neurosci (2015 Apr-Jun)

Cranial magnetic resonance imaging (a) Axial T2, (b) Axial FLAIR, (c) Sagittal T1 showing normal brainstem
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4489068&req=5

Figure 3: Cranial magnetic resonance imaging (a) Axial T2, (b) Axial FLAIR, (c) Sagittal T1 showing normal brainstem
Mentions: 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 1a–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 2a 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].

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology, M.M.I.M.S.R, Mullana, Ambala, Haryana, India.

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.

No MeSH data available.


Related in: MedlinePlus