A Novel Mutation in Cystic Fibrosis Presenting as Pseudo Bartter Syndrome: A Case Report.

Pseudo-Bartter's (PB) syndrome is characterized by hypokalemic metabolic alkalosis and failure to thrive which constitutes a rare but typical presentation of cystic fibrosis (CF) in children. The most common mutation of CF is F508del, due to loss of 3 base pairs, causing deletion of phenylalanine, at position 508. We present a case of CF presenting with failure to thrive, dehydration, PB syndrome associated with urosepsis and primo-colonization with Escherichia coli suggesting the role of epigenetic factors. The heterozygous state for Phe508del mutation in Exon 11 combination with Glu92Ala in Exon 4 resulted in epigenetic effect on atypical phenotype as PBS, a novel mutation identified in our case.

"Liver Failure in an Infant of Late-Onset Glutaric Aciduria Type II": Case Report.

Glutaric aciduria type II, also known as Multiple acyl-CoA Dehydrogenase Deficiency, results from a defect in the mitochondrial electron transport chain resulting in an inability to break down fatty-acids and amino acids. There are three phenotypes- type 1 and 2 are of neonatal onset and severe form, with and without congenital anomalies, respectively, and presents with acidosis, severe hypotonia, cardiomyopathy, hepatomegaly, and non-ketotic hypoglycemia. Type 3 or late-onset Multiple acyl-CoA Dehydrogenase Deficiency usually presents in the adolescent or adult age group with phenotype ranging from mild forms of myopathy and exercise intolerance to severe forms of acute metabolic decompensation on its chronic course. Type 3 Multiple acyl-CoA Dehydrogenase Deficiency rarely presents in infancy and in liver failure. We present a five-month-old developmentally normal female child with acute encephalopathy, hypotonia, non-ketotic hypoglycemia, metabolic acidosis, and liver failure, with a history of sibling death of suspected inborn error of metabolism. The blood acyl-carnitine levels in Tandem Mass Spectrometry and urinary organic acid analysis through Gas Chromatography-Mass Spectrometry were unremarkable. The patient initially responded to riboflavin, CoQ, and supportive management but ultimately succumbed to sepsis with shock and multi-organ dysfunction. The clinical exome sequencing reported a homozygous missense variation in exon 11 of the ETFDH gene (chr4:g.158706270C > T) that resulted in the amino acid substitution of Leucine for Proline at codon 456 (p.Pro456Leu) suggestive of Glutaric aciduria type IIc (OMIM#231,680).

A Novel SCN8A mutation in a case of early-onset infantile epileptic encephalopathy: A Case Report.

SCN8A gene encodes sodium channel alpha subunit Nav1.6, and its mutation is associated with Early Infantile Epileptic Encephalopathy-13 (EIEE-13). The mean age of onset is 4-5 months. The phenotype of SCN8A mutation varies from benign epilepsy syndromes, movement disorder, intellectual disability to severe epileptic syndromes with different types of seizures. We hereby report a case of a one-year old female who had an onset of infantile spasms on the seventeenth day of life, which gradually progressed to focal, multifocal, GTCS, and epileptic encephalopathy by one year of age associated with global developmental delay and hypotonia. All metabolic workup, TMS, GCMS, and MRI brain were normal. EEG at 2.5 months was suggestive of epileptic discharge arising from the left frontal region, evolving into generalized discharges. Whole exome sequencing revealed a heterozygous mutation in the SCN8A gene at exon 16 (p.Val892Ala) suggestive of Early Infantile Epileptic Encephalopathy-13 (EIEE-13). This is a novel mutation in the SCN8A gene which has not been reported previously in the literature.

Reversal of Acute Lead Encephalopathy in a Child.

Lead poisoning, fairly common in the 20th century, has decreased drastically in the last decade. Severe lead poisoning in the form of encephalopathy has a fatality rate of 28% to 45% and neurological sequelae in about 82%. We present the management of a case of lead encephalopathy that recovered without any significant neurological sequelae in a resource-limited setting. A previously healthy seven-year-old boy presented with complaints of falling unconscious on the ground while playing, followed by multiple episodes of seizures, vomiting, and altered sensorium. The patient had pallor, Glasgow coma score of E2V3M3, with features of raised intracranial pressure. Lead poisoning was suspected as the patient had four months of exposure to a battery recycling factory. Management of seizures and raised intracranial pressure was done. X-ray long bones showed lead lines at the metaphysis. Blood lead levels were highly elevated (139.96 mcg/dL). Investigations revealed iron deficiency anemia, vitamin D deficiency, and renal tubular injury in the form of proteinuria. D-penicillamine with supplements was started due to unavailability of other chelating agents. Encephalopathy improved, but patient had psychiatric symptoms of hallucinations and delusions. On the 12th day, CaNa2 EDTA was started, which resulted in significant improvement in the psychiatric symptoms. The patient had near-complete recovery in another one month, the patient being able to read, write, recite and speak as the pre-illness state. In conclusion, lead poisoning remains a significant health problem even today. Early recognition and management are of paramount importance in its outcome.

Hypertension and its severity in children with steroid sensitive nephrotic syndrome during remission.

BACKGROUND AND OBJECTIVE: Hypertension is not a typical feature of steroid sensitive nephrotic syndrome (SSNS) and the presence of persistent hypertension is suggestive of significant renal lesion. There is paucity of data regarding occurrence and severity of hypertension in SSNS in pediatric population during remission and was the main objective of this study. In addition, correlation with factors like family history, BMI, and lipid profile was studied. METHODS: Cross-sectional study conducted at tertiary care center in India including 81 children of infrequent relapsing SSNS between 1 and 10 years in remission and was off steroids. Grading and severity of hypertension were assessed. Statistical analysis was done using SPSS version 21.0. RESULTS: Median age of presentation was 5 years, with male:female ratio of 1.3:1. Out of 81 infrequent relapsing SSNS children, 23.45% (19) had hypertension. Among those children with hypertension (n = 19), 73.68% (14) had positive family history compared to 32.25% (20) in those without hypertension. Positive correlation was found between BP and serum cholesterol and LDL. Of the hypertensive patients, 1 (5.26%) had fundus changes, 2 (10.52%) had features of left ventricular hypertrophy, and 13 (68.42%) had non-nephrotic range proteinuria. CONCLUSION: There is high incidence of hypertension in NS children during remission. Though significant positive correlation was found with positive family history of hypertension and deranged lipid profile highlighting possibility of essential hypertension in them, there is need for close active monitoring and management of hypertension in them as untreated cases may have significant target organ damage.