A case report of leukoencephalopathy with vanishing white matter disease

Vanishing white matter disease (VWM) is one of the most prevalent inherited childhood leucoencephalopathies. Childhood ataxia and diffuse central nervous system hypomyelination are the common findings. The disease is characterized by chronic progressive and episodic deterioration with ataxia, spasticity and optic atrophy. VWM is caused by mutation in any of the five genes encoding the subunits of eukaryotic translation initiation factor eIF2B. The disease has an autosomal recessive mode of inheritance. The cause of the disease is unknown. Authors are reporting an 8 year old male child presented with complaint of difficulty while walking since one month and history viral fever was present one month back. MRI revealed bilateral symmetrical periventricular T2 hyperintensities with T1 hypointensities. Perivenular sparing was seen and molecular analysis shown eIF2B4 mutations confirmation of vanishing white matter disease. No specific treatment is available and advised to avoid stress and triggers.

Severity of thrombocytopenia and its outcome in preterm and term neonates admitted in neonatal intensive care unit in a rural tertiary care hospital

Background: Detection of thrombocytopenia is a useful initial assessment for sick neonates, and it is considered as one of the complications of the disease process.Methods: The present study was a prospective hospital based observational study done in 60 neonates in the department of Paediatrics, KIMS, Narketpally during the period of October 2016 to September 2018.Results: The proportion of babies with thrombocytopenia admitted to the NICU was 10.9%. out of the sixty newborns with thrombocytopenia, 31(51.7%) were term babies and 29(48.3%) babies were preterm. Out of 29 preterm babies 3 (5%) were extremely preterm, 5 (8.3%) were very preterm and 21(35%) babies were moderate to late preterm. 32 babies (53.3%) had mild thrombocytopenia, 14 babies (23.3%) babies had moderate thrombo cytopenia and 14 babies (23.3%) had severe thrombocytopenia. The most common etiologic association with thrombocytopenia was septicemia (60%) followed by birth asphyxia (23.3%), maternal Pregnancy induced Hypertension (18.3%), both Disseminated intravascular coagulation and Meconium aspiration syndrome were 6.6% and Necrotizing enterocolitis was 3%. Among the 60 babies admitted with thrombocytopenia, the most frequently seen symptom was not feeding well (35%) and lethargy (33.3%) in all three groups that is babies with mild, moderate, and severe thrombocytopenia. Mortality rate among severely thrombocytopenic neonates was significantly higher (57.14%).Conclusions: Low platelet count was an independent risk factor for poor outcome in our study. Hence it could be used as a prognostic indicator in thrombo- cytopenic neonates.