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1.
Cureus ; 16(6): e61863, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38978912

ABSTRACT

Based on the examination of four distinct cases, this case series offers a thorough investigation of the intricate relationship between dengue fever and hepatitis A infection. Despite their distinct origins, both illnesses manifest overlapping clinical features, posing considerable diagnostic hurdles, particularly in endemic regions. The cases reveal consistent symptoms such as elevated fever, abdominal discomfort, jaundice, and irregular liver function test results, underscoring the intricate nature of an accurate diagnosis. Variations in age distribution and the severity of symptoms underscore the necessity for tailored treatment approaches. Diagnostic challenges stem from the similarity in clinical presentations and shared laboratory abnormalities, necessitating comprehensive serological assessments. Therapeutic strategies entail a multidisciplinary approach addressing both hepatic and systemic manifestations, with supportive measures ensuring favorable clinical outcomes. Despite the complexities involved, timely interventions facilitate gradual symptom amelioration and successful patient recovery. Informing clinical practice and directing public health actions, this case series provides insightful information about the diagnostic and treatment complications associated with co-occurring dengue fever and hepatitis A infection.

2.
Cureus ; 16(5): e59775, 2024 May.
Article in English | MEDLINE | ID: mdl-38846250

ABSTRACT

Sodium channel 8 alpha (SCN8A) mutations encompass a spectrum of epilepsy phenotypes with diverse clinical manifestations, posing diagnostic challenges. We present a case of a nine-year-old male with SCN8A gene-associated developmental and epileptic encephalopathies (DEEs), characterized by generalized tonic-clonic seizures (GTCS) since infancy. Despite treatment with multiple antiepileptic drugs (AEDs), including phenytoin, valproate, levetiracetam, carbamazepine, and clobazam, seizure control remained elusive, prompting genetic testing. Whole exome sequencing confirmed a heterozygous mutation (p.Phe210Ser) in SCN8A exon 6, indicative of DEE-13. Functional studies revealed a gain-of-function mechanism in SCN8A variants, resulting in heightened ion channel activity and altered voltage dependence of activation. Despite treatment adjustments, the patient's seizures persisted until topiramate was introduced, offering partial relief. SCN8A, encoding Nav1.6 sodium channels, modulates neuronal excitability, with mutations leading to increased persistent currents and hyperexcitability. Early seizure onset and developmental delays are hallmarks of SCN8A-related DEE. This case highlights the significance of genetic testing in refractory epilepsy management, guiding personalized treatment strategies. Sodium channel blockers like phenytoin and carbamazepine are often first-line therapies, while topiramate presents as a potential adjunctive option in SCN8A-related DEE. Overall, this case underscores the diagnostic and therapeutic complexities of managing SCN8A-related epileptic encephalopathy, emphasizing the importance of long-term monitoring and personalized treatment approaches for optimizing outcomes in refractory epilepsy.

3.
Cureus ; 16(5): e61201, 2024 May.
Article in English | MEDLINE | ID: mdl-38939285

ABSTRACT

Acute lymphoblastic leukemia (ALL) is the most prevalent pediatric malignancy, accounting for approximately 25% of childhood cancers. Despite significant advancements in treatment protocols, ALL remains a complex disease, often presenting with various complications, including the rare metabolic disturbance of type B lactic acidosis. This case report details the clinical journey of a 14-year-old female with ALL who developed type B lactic acidosis during treatment. The patient presented with intermittent fever, abdominal pain, jaundice, and hepatosplenomegaly, accompanied by severe anemia and thrombocytopenia. Initial management included supportive care and chemotherapy initiation. Despite aggressive interventions, the patient's condition deteriorated, with escalating lactic acidosis and respiratory distress, leading to a critical need for tailored management strategies. This report underscores the importance of early recognition and comprehensive management of type B lactic acidosis in pediatric ALL, highlighting its multifactorial etiology and potentially life-threatening consequences. Enhanced clinical awareness and a multidisciplinary approach are crucial for improving outcomes in such complex cases.

4.
Cureus ; 16(5): e60034, 2024 May.
Article in English | MEDLINE | ID: mdl-38854197

ABSTRACT

Critically ill children admitted to the pediatric intensive care unit (PICU) face a substantial risk of morbidity and mortality, regardless of whether they are in developed or developing countries. To aid in treatment planning, various prognostic scoring systems have been developed to predict the likelihood of morbidity and death in these young patients. While the sequential organ failure assessment (SOFA) score has been validated as an independent risk predictor for adult mortality in cases of confirmed or suspected sepsis, it is not suitable for use in children due to its lack of age normalization. Children in critical condition often exhibit significant deviations from the normal physiological balance of their bodies. These deviations from the typical range of physiological variables can be leveraged to estimate the extent of these variations and create scoring systems. In this context, the pediatric SOFA (pSOFA) score was developed by modifying the original SOFA score and incorporating age-adjusted cutoffs for various bodily systems. The objective of this review is to assess the effectiveness of the pSOFA score in predicting sepsis-related mortality in pediatric patients within the PICU setting.

5.
Cureus ; 16(5): e60330, 2024 May.
Article in English | MEDLINE | ID: mdl-38883091

ABSTRACT

Sprengel's deformity is a conspicuous anomaly, affecting one or both scapulas. The congenital elevation of the scapula is frequently accompanied by additional anomalies, such as rib, vertebral, or muscular deformities, among which are rib fusion or vertebral deformity. Defects in the cervical vertebrae are most likely to result in Klippel-Feil syndrome, which is characterised by a short neck, restrictions on head mobility, and low-growing neck hair. Fewer than half of the instances had scoliosis, which is compensatory due to efforts to straighten the spine. The present case report was the case of Sprengel's deformity reported to our department.

6.
Cureus ; 16(2): e54871, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38533162

ABSTRACT

Wilson disease (WD) is an autosomal recessive disorder marked by aberrations in copper metabolism, leading to its accumulation in vital organs such as the liver, brain, cornea, kidneys, and heart. While WD typically presents with hepatic symptoms in early childhood, neuropsychiatric manifestations are more prevalent during adolescence. This case report highlights an extraordinary instance of WD in an eight-year-old girl, characterized by intricate clinical and radiological features. The patient exhibited atypical symptoms, emphasizing the importance of recognizing diverse presentations of WD. Delayed diagnosis and treatment initiation can prove fatal in WD cases, underscoring the significance of awareness regarding these unusual clinical and radiological features to facilitate prompt intervention and prevent adverse outcomes.

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