We read with great interest the paper of Briggs et al. [2008b]. Authors described five patients with postnatal microcephaly, refractory seizures and characteristic pattern of bilateral band-like intracranial calcification associated with simplified gyration and polymicrogyria. Coincidently in the previous issue, we presented a large family with the same clinical and imaging findings [Abdel-Salam et al., 2008]. The uniformity of the clinical and imaging findings (especially the pattern of calcification) described in the two reports with those described previously [Kalyanasundaram et al., 2003;Caksen et al., 2004] are striking and leave no doubt that they represent the same entity.
Here we would like to present a new family with two affected sibs with congenital microcephaly that became more pronounced postnatally, refractory seizures, the same pattern of band-like intracranial calcification (BIC), polymicrogyria, dysplastic ventricles and loss of the white matter. These features are in accordance with the previously described reports and provide further evidence that this entity is a distinct autosomal recessive form of congenital infection like syndromes.
Patient 1 is a male who was born at term by vaginal delivery, to a 23-year-old mother and 28-year-old father following an uneventful pregnancy. The parents were consanguineous and healthy, reporting only a history of vitiligo in the mother. Family history revealed a brother who was similarly affected to the proposita (Patient 2). His birth weight, length and head circumference were 3,500 g (mean), 50 cm (mean), and 32 cm (ร2.03 SD), respectively. Apgar score was not recorded. He developed physiological jaundice but there were no petechiae, or organomegaly. He had his first seizures at the first month of life. The nature of the seizures was variable sometimes tonic-clonic seizures (accompanied with cyanosis), but often focal seizures involving the limbs. Seizures were not controlled on phenobarbital and valproate but showed good response on valproate and lamotrigine. In addition, he had frequent apneic spells that lasted for seconds and after which he regained consciousness. Feeding difficulties were also reported since that age. We first saw the child at the age of 9 months. On examination weight, length and head circumference were 5,000 g (ร5.3 SD),