The range and extent of neurologic and neurobehavioral complications of human immunodeficiency virus (HIV-1) infection in children are under-described. Seventy-eight children with HIV-1 infection (32 females) were assessed for neurologic complications. Forty-six children had abnormal neurology examinations. Thirty-three children had global pyramidal tract signs, 5 had a hemiparesis, 4 had peripheral neuropathy, 18 had visual impairment, and 5 had hearing impairment. Thirty-nine of 63 children over 1 year of age had neurobehavioral problems. Of 24 children with HIV encephalopathy, 74% had severe immunosuppression and 45% were not receiving antiretroviral therapy. Twelve children had prior opportunistic central nervous system infections, and 9 had epilepsy. Diverse neurologic and neurobehavioral deficits are common in children with HIV-1 infection. Children with severe immunosuppression, who were not receiving antiretroviral therapy, were growth impaired and less than 1 year of age, were at greatest risk for developing neurologic complications.

In a retrospective review of patients with acquired demyelinating disorders of the central nervous system, 19 children (0.6%) were identified from the Paediatric Neurology database of 3159 patients; 7 had acute disseminated encephalomyelitis, 1 had Schilder's disease, 5 had multiple sclerosis, and 6 had acute transverse myelitis. The median age of presentation was 83 months, with increased incidence during the summer and winter months. The commonest presentation was hemiparesis. The commonest regions of magnetic resonance imaging (MRI) abnormalities were the deep white matter (68%) and cerebellum (48%).The patients with multiple sclerosis had more monosymptomatic presentations (P < .02), raised cerebrospinal fluid protein (P = .022), and contrast enhancement of lesions (P = .05) compared with the acute disseminated encephalomyelitis group. Neuroepidemiological published surveillances of African children provide no data about these disorders. The prevalence of acquired demyelinating disorders in resource-poor settings is under-estimated because of the large burden of infections and limited access to neuroimaging.

BackgroundSchimke immuno-osseous dysplasia (SIOD) is a multisystemic disorder caused by biallelic mutations in the SWI/SNF-related matrix-associated actin-dependent regulator of chromatin, subfamily A-like 1 (SMARCAL1) gene. Changes in gene expression underlie the arteriosclerosis and T-cell immunodeficiency of SIOD; therefore, we hypothesized that SMARCAL1 deficiency causes the focal segmental glomerulosclerosis (FSGS) of SIOD by altering renal gene expression. We tested this hypothesis by gene expression analysis of an SIOD patient kidney and verified these findings through immunofluorescent analysis in additional SIOD patients and a genetic interaction analysis in Drosophila.ResultsWe found increased expression of components and targets of the Wnt and Notch signaling pathways in the SIOD patient kidney, increased levels of unphosphorylated β-catenin and Notch1 intracellular domain in the glomeruli of most SIOD patient kidneys, and genetic interaction between the Drosophila SMARCAL1 homologue Marcal1 and genes of the Wnt and Notch signaling pathways.ConclusionsWe conclude that increased Wnt and Notch activity result from SMARCAL1 deficiency and, as established causes of FSGS, contribute to the renal disease of most SIOD patients. This further clarifies the pathogenesis of SIOD and will hopefully direct potential therapeutic approaches for SIOD patients.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-016-0519-7) contains supplementary material, which is available to authorized users.