Aicardi-Goutieres syndrome (Encephalopathy-basal ganglia-calcification)
Incidence
It is autosomal recessive.At least 60 cases reported.
Clinical Characteristics
Aicardi-Goutieres syndrome is an autosomal recessive encephalopathy which interrupts development and causes intracerebral calcification and white matter disease. Clinically it is characterized by progressive infantile encephalopathy, microcephaly, spastic quadriplegia and profound retardation. The following are common signs: Postnatal microcephaly, moderate to profound developmental delay, spastic quadriplegia, extrapyramidal dyskinesia, visual disturbance with abnormal eye movement, and refractory seizures. Basal ganglia calcifications. There is porencephaly/schizencephaly (Very frequent sign), hypertonia/spasticity/rigidity (Very frequent sign), holoprosencephaly/arhinencephaly (Very frequent sign), mental retardation(degree not assessed) (Very frequent sign), coloboma of the eyelid (Frequent sign), paraparesis/quadraparesis (Frequent sign), ptosis (Occasional sign), microcephaly (Occasional sign), plagiocephaly (Occasional sign), seizures ( any type) (Occasional sign). These patients evolve to a vegetative state and early death. Radiology shows calcification of the basal ganglia, frontal atrophy, white matter hypodensity, and calcification of the lenticular nuclei on CT scan. Lab shows chronic CSF lymphocytosis and TORCH serology is negative.Its inheritance : Autosomal recessive. Laboratory findings include chronic cerebrospinal fluid lymphocytosis and an elevated interferon-alpha (IFN-alpha) in cerebrospinal fluid. Diagnosis requires the presence of progressive encephalopathy with onset shortly after birth, and characteristic neurological clinical and neuroimaging signs together with chronic CSF lymphocytosis. The syndrome apparently resembles neurological sequelae of congenital infection, thus a rigorous search for microbiological and serological evidence of embryopathic infections should be carried out in each case.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
Laboratory findings include chronic cerebrospinal fluid lymphocytosis and an elevated interferon-alpha (IFN-alpha) in cerebrospinal fluid.