Sir,we have read with great interest Rasmussen et al.'s report of two sisters with Aicardi-Goutières syndrome (AGS) with cerebral thrombotic microangiopathy, one of whom had antiphospholipid antibodies [1]. As the authors pointed out, their observation adds to a previous similar report of two siblings [6].We would like to describe a further patient with clinical and biological signs of systemic lupus erythematosus (SLE) and an AGSlike picture that improved markedly on corticosteroids and her sister with similar features consistent with AGS.The propositus presented at seven months with a skin rash and feeding difficulties. She was born at 37 weeks gestation from healthy consanguineous parents from Pakistan. Birth weight was 2700 g, height was 47.5 cm, and head circumference 33 cm. She has two healthy older brothers, a brother with a poorly documented history of severe developmental delay who died in status epilepticus at the age of 19 months, a brother with congenital cardiomyopathy and squamous skin lesions of unknown etiology, and one sister described below. Investigations and availability of information regarding the other family members have been limited by poor parental collaboration. At presentation, she had failure to thrive including microcephaly, poor interaction, quadriplegia with spasticity and generalized dystonia, chronic otorrhea, interstitial pneumopathy, and scaly erythematous plaques extending over the whole body. The following investigations were normal: hemogram, liver enzymes, serum lactate, plasma and urine aminoacids, urine organic acids, karyotype, toxoplasma, Rubella and herpes simplex serology, biotinidase, arylsulfatase and cerebroside-β-galactosidase activities and isoelectrofocussing of sialotransferrins. Total IgG levels were 1.9 g/dL (0.3 -1.7 g/dL) and IgM 1.0 g/dL (0 -0.2 g/dL). Cerebrospinal fluid cell count, protein level, and electrophoresis, glucose, and lactate were normal as well as neurotransmitters. Magnetic resonance imaging (MRI) performed at eight months showed diffuse hypomyelination. Skin biopsy showed monocytic inflammation in the superficial dermis. Cultured fibroblasts showed normal growth under UV exposure. Additional immunological investigations obtained at the age of two years showed antinuclear factor titer at 1 : 2500, anti-mDNA antibody 1 : 80, anti-double stranded DNA 1 : 140, anti-nucleosome 6.4 BI, negative anti-RNP, anti-RO, anti-LA, anti-SCL70, and antimyelin antibodies. Anticardiolipin antibodies, and complement were normal. Repeat brain MRI showed cortical atrophy, hypomyelination, and abnormal signal in putamina ( Fig. 1) corresponding to the calcifications seen on computed tomography (Fig. 2).She received prednisolone (1 mg/kg/d) and azathioprin (2 mg/ kg/d). On this treatment, the skin rash disappeared, otorrhea resolved, and pulmonary function markedly improved with disappearance of radiographic interstitial infiltrate. Concomitantly, there was marked improvement in interaction and motor control, with the emergence of social smile, vocalizing, and ey...
