Potassium channel subfamily T member 1(KCNT1) pathological variant causing epilepsy of infancy with migrating focal seizures: A case report

Pathological mutation of potassium channel subfamily T member 1 (KCNT1) gene causes an autosomal dominant disorder characterised by secondarily generalised seizures/migratory focal seizure, cyanosis, and dysmorphic features. We report the case of a five-month old male with pathological KCNT1 variant who presented with focal clonic seizures, Mongol spots, and grade two systolic murmur at the left lower sternal border and loud P2. The seizures were refractory to most anti-epileptic drugs but showed some response to Valproic acid. This case demonstrated that EIMFS is a grave infantile epileptic encephalopathy which is refractory to anti epileptic drugs and can present with a wide spectrum of neurogenic and cardiogenic symptoms

Early infantile epileptic encephalopathy in asparagine-linked glycosylation thirteen (ALG13) gene defect and dramatic response with ketogenic diet

Asparagine-linked glycosylation thirteen (ALG13) gene-related congenital disorders of glycosylation (CDGs) include early onset epileptic encephalopathy (EIEE), developmental delays (DD) with intellectual disability (ID), speech and visual abnormalities, and haematologic and endocrine dysfunctions. Worldwide there is a scarcity of available data on this. To add to this scarce data, we report the case of a young girl with this rare genetic mutation who showed remarkable improvement in her seizures by addition of ketogenic diet (KD) to her management regimen. With an already high rate of consanguineous marriages, metabolic and genetic errors are widely prevalent; hence, to bridge the huge gap in the understanding of such diseases, further research and trials are needed to be carried out to improve identification of the disease along with outcomes

Early Infantile Epileptic Encephalopathy in asparagine-linked glycosylation thirteen (ALG13) gene defect and dramatic response with Ketogenic diet

Asparagine-linked glycosylation thirteen (ALG13) gene-related congenital disorders of glycosylation (CDGs) include early onset epileptic encephalopathy (EIEE), developmental delays (DD) with intellectual disability (ID), speech and visual abnormalities, and haematologic and endocrine dysfunctions. Worldwide there is a scarcity of available data on this. To add to this scarce data, we report the case of a young girl with this rare genetic mutation who showed remarkable improvement in her seizures by addition of ketogenic diet (KD) to her management regimen. With an already high rate of consanguineous marriages, metabolic and genetic errors are widely prevalent; hence, to bridge the huge gap in the understanding of such diseases, further research and trials are needed to be carried out to improve identification of the disease along with outcomes. Keywords: AGLT13 mutation, epileptic encephalopathy and ketogenic diet

Potassium channel subfamily T member 1(KCNT1) pathological variant causing epilepsy of infancy with migrating focal seizures: a case report

Pathological mutation of potassium channel subfamily T member 1 (KCNT1) gene causes an autosomal dominant disorder characterised by secondarily generalised seizures/migratory focal seizure, cyanosis, and dysmorphic features. We report the case of a five-month-old male with pathological KCNT1 variant who presented with focal clonic seizures, Mongol spots, and grade two systolic murmur at the left lower sternal border and loud P2. The seizures were refractory to most anti-epileptic drugs but showed some response to Valproic acid. This case demonstrated that EIMFS is a grave infantile epileptic encephalopathy which is refractory to anti-epileptic drugs and can present with a wide spectrum of neurogenic and cardiogenic symptoms. Keywords: KCNT1; Mutation; Paediatric; Pakistan

Utility of neutrophil to lymphocyte ratio to predict acute respiratory distress syndrome in COVID-19: Short communication

Acute respiratory distress syndrome (ARDS) is the most severe and devastating form of acute lung injury. Neutrophil to lymphocyte ratio (NLR) and C-reactive protein have been used to predict severity and prognosis of certain viral illnesses.Methods: A retrospective cohort study was conducted in hospitalized COVID-19 patients. Serial measurements of NLR and C-reactive protein were recorded and patients were followed for development of ARDS.Results: Out of 388 patients admitted with COVID-19, 43 patients developed ARDS compared with 345 patients who did not develop ARDS. The median NLR at presentation was significantly higher in patients who developed ARDS (8.89 vs. 4.25) compared with those who did not develop ARDS (P\u3c0.001). Moreover, serial measurement of NLR at presentation, day 3, day 5 and day 7 was significantly associated with development of ARDS (P\u3c0.001). In multivariable analysis, age of greater than or equal to 50 years (adsjusted odds ratio=3.28; 95% CI=1.40-7.69) and unit increase in NLR at presentation (adsjusted odds ratio=1.07; 95% CI=1.03-1.11) were independently associated with development of ARDS.Conclusion: Serial measurement of NLR can predict patients who are at a greater risk for developing ARDS in COVID-19

Breast cancer in a teenage girl with BRCA mutation: A case report from a low middle-income country

Introduction: A staggering majority of pediatric breast masses are benign (mostly fibroadenoma) and so a biopsy is not readily performed as it can potentially lead to a future breast disfigurement. However, this should not be standard practice as this can lead to a delayed diagnosis, and hence, the treatment of pediatric breast cancer (BC); this was also seen in our patient\u27s scenario.Case history: Here, we report the case of the youngest known breast cancer patient in Pakistan, a 15-year-old girl. The right-sided breast lump which was diagnosed clinically as a fibroadenoma later turned out to be stage IIb pT3N0M0 metaplastic breast carcinoma with BRCA1 positivity and mutations in SMARCA4. Being young and unmarried, the patient and her family decided to opt for breast-conserving surgery with high-risk surveillance for breast and ovaries.Discussion: We believe that prophylactic surgeries can be delayed with strict surveillance and thorough counseling. As pediatric BC is linked to a less favorable prognosis, every young patient diagnosed with breast cancer and their family should undergo genetic testing. BC management should be handled by specialists in the field and doctors should be trained for initial diagnostics and timely referral of patients.Conclusion: It is important to improve our understanding of genetic predisposition and testing in lower-middle-income countries. Considering the changing global trends, we suggest that the utilization of genetic services is direly needed to improve preventative care for at-risk individuals with breast and other cancers

Predictors of clinical outcomes in patients with sepsis: a retrospective study from a tertiary care hospital in Pakistan

Objective: To assess associations between various clinic-demographic factors and clinical outcomes among patients treated for sepsis. Methods: The retrospective study was conducted at the Aga Khan University Hospital, Karachi, and comprised data of all patients aged >18 years diagnosed with sepsis from January to December 2019. Multivariable logistic regression was used to evaluate independent associations between predictors and outcomes. Data was analysed using R packages. Results: Of the 1,136 patients, 621(54.6%) were male and 515(45.3%) were female. The overall mean age was 59.05±16.91 years. Female gender (odds ratio: 1.029; 95% confidence interval: 1.03-1.64) to be an independent predictor of septic shock, while hypertension (odds ratio0.75; 95% confidence interval: 0.59-0.95) emerged as a protective factor. Chronic kidney disease (odds ratio: 1.539; 95% confidence interval: 1.14-2.07) was an independent predictor of prolonged length of stay, while older age appeared to be protective (odds ratio: 0.98; 95% confidence interval: 0.98-0.99). Mortality was associated with a significantly lower odds of Escherichia coli on culture (odds ratio: 0.26; 95% confidence interval: 0.12-0.54). Conclusion: Independent associations were found between specific patient characteristics and adverse clinical outcomes. Key Words: Sepsis, Septic shock, Mortality, Morbidity

Neuropsychiatric disorders after awake craniotomy for brain tumour

Awake-craniotomy (AC) allows maximum tumour resection while reducing the risk of permanent postoperative neurological deficits without compromising the outcomes of the treatment. AC is a potentially stressful procedure for the patients, which may lead to long-term effects on patients\u27 psychology, and may lead to post-traumatic stress. However, there is a scarcity of data suggesting actual association of any neuropsychiatric conditions after AC. Therefore, we sought to review the neuropsychiatric conditions post awake craniotomy

Paediatric choroid plexus carcinoma: a retrospective case series from Karachi

The objective of this study is to report clinical, radiological, and histopathological characteristics of three paediatric patients diagnosed as Choroid plexus carcinoma seen at our hospital, between 2015 and 2020. Three patients were diagnosed with choroid plexus carcinomas between 2015 and 2018. The mean age at diagnosis was 1.3 years (range 8 months to 1.5 years). All the three patients had subtotal resection and received adjuvant chemotherapy. One patient also received adjuvant radiotherapy. Despite these treatment measures, residual disease was noted in all three patients and two patients were subsequently treated on palliative care grounds. The average duration of follow-up after the first surgery for all three patients was approximately 33 months. Attaining satisfactory outcome in patients with CPC is challenging. Our case series reflects the difficulty in achieving gross total resection and ensuring that the disease does not recur