Clinically:
Brachycephaly.
Hypotelorism,
convergent squint
Delayed
milestones.
MRI study of
brain shows:
Bilateral
symmetric frontal lobar Poly micro gyria.
Diffuse cerebral
cortical atrophy with mild dilatation of lateral ventricles.
Bilateral
Cerebral Periventricular as well as sub cortical white matter show symmetric
confluent T2 hyperintensity with white matter paucity suggestive of hypo
myelination.
Marked atrophy of
Brainstem particularly Pons, hypo plasia with a typical midline cleft.
Bilateral
cerebellar hemispheres show multiple T2 hyperintense small cysts with micro
folia attributed to an associated cerebellar dysplasia, Polymicrogyria with
mild hypo plasia of cerebellar vermis. Postero fossa normal sized.
Bilateral Basal
ganglia and thalami spared.
Imaging findings
are typical of Fukuyama
Reference : American Society of Neuroradiology : Fukuyama Congenital Muscular Dystrophy
Fukuyama Congenital Muscular Dystrophy
• Heterogeneous group of inherited disorders characterized by myopathy and hypotonia at birth.
• Rarely occurs outside the Japanese population.
• Autosomal recessive inheritance; gene locus identified on chromosome 9.
• The disease onset typically occurs in early infancy. Initial symptoms may include a poor suck, weak cry, floppiness, symmetrical generalised muscle weakness and hypotonia. Facial myopathy may also be seen and increases with age. Developmental and speech delay occur in all individual with FCMD. Other symptoms include seizures, clinical features related to cardiomyopathy, and cardiac failure. Survival beyond 20 years is uncommon, and death usually occurs following respiratory complications.
• The diagnosis of FCMD is usually established by clinical features, characteristic findings on neuroimaging, and serum CK concentration. Molecular genetic testing, when available, is usually performed to confirm the diagnosis.
• Key Diagnostic Features are cerebral and cerebellar polymicrogyria with accompanying cysts, and mild ventricular dilatation. Uncommonly, agenesis of septum pellucidum can be seen.
• Rx: Supportive therapy.
Reference : American Society of Neuroradiology : Fukuyama Congenital Muscular Dystrophy
Fukuyama Congenital Muscular Dystrophy
• Heterogeneous group of inherited disorders characterized by myopathy and hypotonia at birth.
• Rarely occurs outside the Japanese population.
• Autosomal recessive inheritance; gene locus identified on chromosome 9.
• The disease onset typically occurs in early infancy. Initial symptoms may include a poor suck, weak cry, floppiness, symmetrical generalised muscle weakness and hypotonia. Facial myopathy may also be seen and increases with age. Developmental and speech delay occur in all individual with FCMD. Other symptoms include seizures, clinical features related to cardiomyopathy, and cardiac failure. Survival beyond 20 years is uncommon, and death usually occurs following respiratory complications.
• The diagnosis of FCMD is usually established by clinical features, characteristic findings on neuroimaging, and serum CK concentration. Molecular genetic testing, when available, is usually performed to confirm the diagnosis.
• Key Diagnostic Features are cerebral and cerebellar polymicrogyria with accompanying cysts, and mild ventricular dilatation. Uncommonly, agenesis of septum pellucidum can be seen.
• Rx: Supportive therapy.
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