Intracerebral calcification in a newborn – Not always a connatal infection

Aims: Presentation of a dystrophic newborn with microcephalus and intracerebral calcification in both basalganglia.

Methods: Patient: Birth after high-risk pregnancy with 36+6 weeks with the presumption of an insufficiency of the placenta and with green amniotic fluid. APGAR 5/7/9, pH of umbilical cord 7.21; weight 1890g (<3. perc); length 48cm (37. perc.), headcircumference 29.5cm (<3. perc). Neurological examination: hypotonic child with microcephalus and central dysphagia.

Laboratory values: thrombocytopenia (88/nl, minimal 55/nl); metabolic acidosis; remaining values for blood count, liver and kidney parameters, CRP and electrolytes were within the normal range. Serological screening for CMV, herpes virus, toxoplasmosis and rubella was negative (TORCH screening).

Ultrasound of the brain: intracerebral calcification in both basalganglia. Further diagnostic: normal male karyotyping; unremarkable metabolic screening. Ophtalmological examination: no retinitis. OAE: negative.

Family history: brother died at age 14 days of Klebsiella-sepsis; parents and 2-year old sister are healthy.

Results: Presumption diagnosis of an intrauterine infection in spite of negative TORCH screening. (compatible with the thrombocytopenia, under exclusion of an alloimmunothrombopenia). In the further course the patient developed pharmacoresistant epilepsy, a dystonia, failure to thrive, a retrocochlear deafness and a nystagmus in concordance of his blindness.

In the course of intensified investigation the final diagnosis of Aicardi-Goutières syndrome type 3 (pointmutation in the RNASEH2C-gene (homozygote)) could be found by genetic analysis.

Conclusion: In spite of its very low prevalence the Aicardi-Goutières syndrome should be considered in the differenzial diagnosis for intracerebral calicification especially if the TORCH screening is negative. This autosomal recessive disease can be confirmed by a special genetic analysis.

Acknowledgement: Dr. Zimmermann/Department for obstetrics, Hospital Rechts der Isar, Munich and Dr. Lee-Kirsch/Dresden for the genetic analysis.