Familial calcification of the basal ganglia with cerebrospinal fluid pleocytosis.

A Rare Case of Aicardi-Goutières Syndrome Who Showed a Positive Evolution after Being Treated with Growth Hormone, High Doses of Melatonin and Neurorehabilitation

“…Moreover, IFN-α levels were higher in CSF than in serum, which suggested an intrathecal synthesis of this antiviral cytokine, but also that it could play a role in the pathogenesis of this encephalopathy [3,4]. These authors concluded that their study revealed that the syndrome was inherited in an autosomal recessive manner, a conclusion also suggested by previous and further reports [2][3][4][5][6][7][8][9][10][11][12][13][14]. Interestingly, studies in sibs demonstrated that AGS may course with a highly variable phenotype [9,11,12], which suggests that different genes or the existence of different mutations in a single gene may be responsible for the appearance or the evolution of the AGS.…”

Recognizable inherited syndrome of progressive central nervous system degeneration and generalized intracranial calcification with overlapping phenotype of the syndrome of Aicardi and Gouti�res

“…Neuroimaging and postmortem examination demonstrated the presence of diffuse cerebral calcification. The clinical, radiological, and pathological changes probably overlap with manifestations of the syndrome of Aicardi and Goutiè res [MIM 225750;Aicardi and Goutières, 1984;Mehta et al, 1986;Tolmie et al, 1995]. The present report describes a recognizable inherited syndrome within the group of progressive early onset CNS diseases manifesting with widespread intracranial calcifications.…”

“…Close scrutiny of the phenotypes described in this and other reports [Jervis, 1954;Babbit et al, 1969;Baraitser et al, 1983;Aicardi and Goutières, 1984;Troost et al, 1984;Ishitsu et al, 1985;Burn et al, 1986;Mehta et al, 1986;Razavi-Encha et al, 1988;Chitayat et al, 1992;Reardon et al, 1994] suggests two broad categories of cases.…”

“…Hearing is usually not involved. Cases described by Aicardi and Goutières [1984] and Mehta et al [1986] are probably typical examples of this group. An important distinguishing feature of these cases is the presence of chronic CSF lymphocytosis.…”

“…There are several reports of familial cocurrence of intracranial calcifications, where affected sibs presented with progressive encephalopathy with onset in the first year of life, postnatal microcephaly, optic atrophy, and progressive neurological deterioration [Babbit, et al 1969;Baraitser et al, 1983;Aicardi and Goutières, 1984;Mehta et al, 1986;Reardon et al, 1994]. These reports point out the marked phenotypic and possibly etiologic heterogeneity.…”