Case 26 :
A young male child presents with microcephaly, developmental delay, and extra-pyramidal signs. MRI was performed. What is the diagnosis?

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Findings reveal basal ganglia calcification, with white matter alterations on MR T2WI, in the peri ventricular level.

Aicardi Goutiere's Syndrome (AGS)


AGS has a genetic basis. From the earliest reports, which described families with more than one affected child, an autosomal recessive mode of transmission of the disorder was established. Following a normal pregnancy and neonatal period, onset usually occurs in the first year of life, between the ages of 3 and 6 months, though sometimes the symptoms are already evident at birth. Affected subjects present feeding difficulties, irritability, abnormal eye movements and recurrent bouts of fever which have no apparent cause and occur in the presence of negative serological investigations. Microcephaly soon becomes apparent, as does the loss of previously acquired mental and motor skills, with the appearance of truncal hypotonia, limb spasticity and dystonic movements; eye contact is absent, and subjects develop opisthotonic postures and oral-facial dyskinesias. They may present epileptic seizures, although these are not frequent. There are no ocular abnormalities, nor is there involvement of the peripheral nervous system (nerves, muscles).

Imaging Findings

Imaging findings reveal the presence of bilateral and symmetrical basal ganglia calcification (in particular at the level of the putamen, pallidus and thalamus) visible on brain CT scan; the presence of white matter alterations, visible as hypodensities on CT scan and as a hypersignal on MRI T2-weighted images, particularly at periventricular level, and sometimes also at brainstem level and in pyramidal tracts, and the presence of progressive periventricular and peripheral brain atrophy (evidenced by CT scan and MRI).

Net References

Dr. Deepak Patkar, MRI Centre, Nanavati Hospital, Mumbai