Wilson disease is a rare autosomal recessive genetic disease, caused by the mutation of the ATP7B gene leading to decreased secretion of serum ceruloplasmin in blood and decrease biliary excretion of copper leading to toxic level accumulation in the liver, brain, kidney, and cornea, resulting in development of characteristic liver disease and neuropsychiatric symptoms. Our case presented with mainly clumsiness and gait abnormality without any psychiatric component and any history of liver disease. A 13-year old male, born out of non-consanguineous marriage, presented with clumsy walking and slurring of speech. The child also complained of poor handwriting and slipping of slipper from foot, without any history of abnormal behavior and poor scholastic performance. On examination gait was abnormal with sidewise swaying, increased muscle tone with rigidity and bilateral flexor plantar reflex. Slit lamp examination of eyes revealed bilateral Kayser-Fleischer rings. Serum ceruloplasmin was low (0.03 g/L) and 24-hour urinary copper was high (119.64 μg/day). MRI brain showed B/L putamen hyperintensity and panda sign suggestive of Wilson disease. After the diagnosis of Wilson disease was made, patient was treated with penicillamine and zinc. Child was also followed-up and re-examination showed slight improvement. Though not rare, Wilson disease is an uncommon entity with varied presentations and disabling consequences. Hence high index of suspicion and clinical correlation is required to diagnose it. Early initiation of treatment and good compliance ensure a better outcome.
Background: Neonatal encephalopathy (NE) is one of the important causes contributing to neonatal death and disability. Knowledge about associated probable risk factors of NE will be helpful in developing strategies for proper intervention and early management. Aims and Objectives: This study aims to describe the etiology, clinical features, and immediate outcomes of NE in the northeastern part of India. Materials and Methods: This hospital-based, cross-sectional observational study included cases of NE beyond 35 weeks of gestation from February 2018 to July 2019. Demographic profiles, risk factors, clinical features, laboratory investigations, imaging, and outcome data were collected and analyzed. Results: A total of 82 patients comprising males (59.7%) and females (40.2%) were included in the study. The mean age of gestation in weeks is 37.60±3.5 SD. Meconium-stained liquor was the most frequent etiology (n=30; 36.5%), followed by dyselectrolytemia (n=8; 9.7%), abnormal hydramnios (oligo or poly) (n=5.6%), and twin pregnancy and instrumental delivery (n=4; 4.8%). Seizures (n=37; 45.1%) were the most common presentation followed by respiratory distress or difficulty (n=25; 30.4%). Around 41.4% suffered from dyselectrolytemia followed by positive sepsis screening of 39%. Most of the cases (87.8%) were discharged after receiving appropriate treatment. Conclusion: The prevalence of neonates with NE as noted in this hospital-based, cross-sectional study was 2.8%. It was found that in most cases, the probable causative factors occurred during the antenatal and intranatal period. Convulsions were the most common clinical presentation among the affected neonates. Most of the admitted neonates had dyselectrolytemia, suggesting that the renal system was predominantly affected, while the immediate outcome was satisfactory.
Pelizaeus-Merzbacher disease, a rare X-linked recessive disease occurring predominantly in males, is a disorder of proteolipid protein expression in myelin formation in the central nervous system. The disease is clinically manifested by neurodevelopmental delay, ataxia, hypotonia, and pendular eye movement. It is best confirmed by genetic study. A 4-year female child presented with ataxia, neuroregression, decreased scholastic performance, slurred speech, loss of bladder and bowel control, and hypotonia. MRI brain showed generalized hypomyelination and atrophy of the cerebrum and cerebellum. This case highlights that Pelizaeus-Merzbacher disease can be considered even in a female child who presented with neurodevelopmental delay and neuro regression, ataxia, and decreased scholastic performance and further confirmed by MRI showing diffuse demyelination along with cerebral and cerebellar atrophy.
Background As a post-COVID complication in children, multisystem inflammatory syndrome in children (MIS-C) is important because of its varied and life-threatening manifestations. With this background, this study attempts to focus on MIS-C cases in an underprivileged rural setting in north-eastern India, with most patients being treated with methylprednisolone rather than intravenous immunoglobulin due to financial constraints. Methods In this prospective longitudinal cohort study at MGM Medical College, 27 MIS-C cases diagnosed following WHO criteria were included. Laboratory and radiological investigations, including echocardiography, were performed as required for diagnosis and to assess prognosis. Most patients were treated with methylprednisolone. A follow-up assessment was done six weeks after discharge for any residual impairment. Results The most frequently affected age group was 5–10 years (59.28%), while respiratory (48.14%) and cardiac (40.74%) were the most commonly involved systems. Logistic regression studies established a significant association between serum ferritin level and prolonged hospital stay (coefficient 0.0674, p=0.0041), possibly due to greater complications in cases with high ferritin levels. Organ impairment was found to increase the need for inotrope use (coefficient 3.8797, p=0.00584). Most cases were treated with methylprednisolone alone (85.18%) with a favourable response and no death occurred. Conclusion The favourable response in cases treated with methylprednisolone only affirms the effectiveness of the drug as a cheaper alternative in a resource-poor setting. The study highlights that higher ferritin levels in complicated cases leads to prolonged hospitalisation and the increased need for inotropes in cases with organ impairment.
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