A 43-year-old man presented with the symptoms of recurrent lower abdominal pain, malaise and loss of appetite of 3-week duration, followed by acute onset of generalized paresthesias, fever and headache which progressed over few days to quadriparesis, altered sensorium, urinary and fecal incontinence. He had consumed raw tongue, liver, gall bladder and testicles of monitor lizard (Varanus bengalensis). Blood picture showed eosinophilia and cerebrospinal fluid (CSF) analysis revealed elevated protein and eosinophilia. Serum and CSF serology was positive for angiostrongyliasis. Magnetic resonance imaging showed focal hyperintense lesions in the corpus callosum and brainstem and an enhancing lesion in the cerebellum. Post-contrast T1-weighted axial images of spine showed evidence of cervical cord hyperintense lesions and root enhancement. Susceptibility weighted images/phase images showed unusual feature of multiple hemorrhagic lesions in the posterior fossa and supratentorial areas. Diffusion showed no restriction of corpus callosal lesions. Patient was treated with the high dose parenteral steroids with albendazole and at 6-month follow-up and had a remarkable recovery.

BackgroundCoats plus syndrome is an autosomal recessive, pleiotropic, multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is caused by compound heterozygous mutations in the CTC1 gene.Case presentationWe encountered a case of an eight-year old boy from an Indian family with manifestations of Coats plus syndrome along with an unusual occurrence of dextrocardia and situs inversus. Targeted resequencing of the CTC1 gene as well as whole exome sequencing (WES) were conducted in this family to identify the causal variations. The identified candidate variations were screened in ethnicity matched healthy controls. The effect of CTC1 variation on telomere length was assessed using Southern blot. A novel homozygous missense mutation c.1451A > C (p.H484P) in exon 9 of the CTC1 gene and a rare 3′UTR known dbSNP variation (c.*556 T > C) in HES7 were identified as the plausible candidates associated with this complex phenotype of Coats plus and dextrocardia. This CTC1 variation was absent in the controls and we also observed a reduced telomere length in the affected individual’s DNA, suggesting its likely pathogenic nature. The reported p.H484P mutation is located in the N-terminal 700 amino acid regionthat is important for the binding of CTC1 to ssDNA through its two OB domains. WES data also showed a rare homozygous missense variation in the TEK gene in the affected individual. Both HES7 and TEK are targets of the Notch signaling pathway.ConclusionsThis is the first report of a genetically confirmed case of Coats plus syndrome from India. By means of WES, the genetic variations in this family with unique and rare complex phenotype could be traced effectively. We speculate the important role of Notch signaling in this complex phenotypic presentation of Coats plus syndrome and dextrocardia. The present finding will be useful for genetic diagnosis and carrier detection in the family and for other patients with similar disease manifestations.Electronic supplementary materialThe online version of this article (doi:10.1186/s12881-015-0151-8) contains supplementary material, which is available to authorized users.

No abstract

No abstract

No abstract