Mobius syndrome with basal ganglia calcification.
Incidence
The majority of patients with Mobius syndrome are sporadic. Families with autosomal recessive, autosomal dominant and X-linked recessive modes of inheritance have all been described. The cases reported by Singh seems to have autosomal recessive type of inheritance.
Clinical Characteristics
Agenesis of the VI and VII cranial nerve nuclei with or without involvement of the other cranial nerves constitute the core of Mobius syndrome. Various oro-facial and musculoskeletal anomalies are seen in more than half of the patients. Despite some autopsy and neuroradiologic reports, involvement of intracranial structures other than the brain stem has not been reported. This discrepancy may in part be due to the small number of cases where central nervous system has been studied in detail. Balbir Singh et al in 1992 reported a family in Saudi Arabia where two children had Mobius syndrome, both showing bilateral calcification of basal ganglia. Both children had multiple skeletal anomalies apparent at birth. Both had pronated forearms with fixed flexion deformities of wrist, and bilateral tallipes equinovarus. They were siblings (brother and sister). Associated oro-facial and skeletal anomalies are seen in 50% of these cases. Commonly seen oro-facial malformations include cleft palate, ear malformations, tongue anomalies and micrognathia. Various musculo-skeletal deformities including club feet, syndactyly, ectrodactyly, hemimelias and Poland anomaly have been described in these patients. Except for mental retardation which is reported in 10-15% of cases with Mobius syndrome, evidence of cerebral involvement in this syndrome is scanty. Unless IQ is formally assessed, facial features of expressionless face, convergent squint and drooling can give a false impression of mental retardation in these patients. These 2 cases like some other case reports suggest that CNS involvement in Mobius syndrome is more extensive than is generally thought of. Probably more patients with Mobius syndrome should have CT and MRI of the brain to study the frequency of basal ganglia calcification and other cerebral lesions in this syndrome.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
It is a clinical diagnosis. Ct scan of brain shows bilateral calcification of basal ganglia.