Novel imaging finding and novel mutation in an infant with molybdenum cofactor deficiency: a mimicker of hypoxic ischaemic encephalopathy

Molybdenum cofactor deficiency is a rare metabolic disorder with neonatal onset seizures, developmental delay, microcephaly and spasticity. In this report, we describe a three-month-old infant presented with neonatal onset, poorly controlled seizures, developmental delay, microcephaly, spastic quadriparesis and visual insufficiency. Magnetic resonance imaging of brain had shown cystic encephalomalacia involving bilateral parieto-occipital lobe, and elevated lactate in magnetic resonance spectroscopy.  Restricted diffusion noted along the corticospinal tract in our case is a novel imaging finding in molybdenum cofactor deficiency.  Low serum uric acid and elevated urine sulphite excretion were observed. A novel homozygous mutation was detected in exon 4 of MOCS2 gene.Early infantile or neonatal onset seizures, developmental delay, microcephaly and cystic encephalomalacia in neuroimaging mimicking hypoxic ischaemic encephalopathy should raise the suspect for molybdenum cofactor deficiency. Screening of all neonates for urinary sulphite metabolites helps in early diagnosis and management. Early diagnosis and treatment with cyclic pyranopterin monophosphate could arrest the progression of this disease. More research is needed to explore further treatment options in this otherwise lethal disorder

Imaging features of rhinocerebral mucormycosis: A study of 43 patients

Background: Rhinocerebral mucormycosis is a life-threatening infection caused by saprophytic fungi seen almost exclusively in immunocompromised patients.The objective of this study was to describe the imaging findings in patients with rhinocerebral mucormycosis. Materials and methods: The case records of patients with biopsy/culture proven invasive rhinocerebral mucormycosis were reviewed. Computed Tomography (CT) and/or Magnetic Resonance Imaging (MRI) images were retrieved from the Picture Archiving and Communication System (PACS) and analyzed. Statistical analysis was performed using descriptive statistics. Results: CT and MR imaging of 43 patients showed predominant involvement of the ethmoid (37, 86%) and maxillary (34, 79%) sinuses. Extension to the orbit (32, 76%) and face (24, 57%) preceded involvement of the deep skull base (5, 12%) and brain (13, 31%). CT showed minimally enhancing hypodense soft tissue thickening as the predominant finding in involved areas, while MRI showed T2 isointense to mildly hypointense soft tissue thickening and heterogeneous post contrast enhancement as the main finding. Bone erosion was seen less often (17, 40%), with rest (26, 60%) of the patients showing extrasinus extension across grossly intact appearing bones on imaging. Conclusion: CT and MRI shows a spectrum of findings in rhinocerebral mucormycosis. Imaging plays a major role in assessing the extent of involvement and complications

Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population

Cerebrotendinous xanthomatosis is a lipid storage disease characterized by diarrhea, cataract, tendon xanthoma and neurological regression if untreated. CYP27A1 is the only gene in which mutations are known to cause Cerebrotendinous xanthomatosis. We report two Indian families from different regions of India who underwent molecular testing of CYP27A1. The first family from Eastern India consisting of two affected individuals was found to have the c.526delG homozygous mutation in exon 3, previously reported from our laboratory, also in a patient from Eastern India. However the second affected individual from Southern India that we studied and two previously reported cases from Northern India have different mutations. Interestingly the only previous report of c.526delG mutation was in a Surinamese individual from the Netherlands. To date most of the pathogenic mutations for Cerebrotendinous xanthomatosis have been confined to single population except for R362C mutation which was reported from the Netherlands and the USA (Black). To our knowledge this is the second causal mutation for Cerebrotendinous xanthomatosis which has been reported in two different populations. As human trading was prevalent from Eastern India to Surinam by the Dutch settlers this mutation might suggest a common founder mutation in these populations

Neuroimaging manifestations in children with SARS-CoV-2 infection: a multinational, multicentre collaborative study

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