Outcome of pediatric living donor liver transplant: Experience from Pakistan; a resource limited setting.

INTRODUCTION: Liver transplantation (LT) has emerged as a lifesaving modality for many liver diseases in children. Pediatric LT is an established treatment in the Western world but is relatively a new procedure in resource-limited countries like Pakistan. The study aims to highlight the outcomes and survival of pediatric recipients from the first pediatric liver transplant center in Pakistan. METHOD: A retrospective analysis of pediatric LT was done from 2012 to 2019. The study was conducted in the Hepatobiliary and liver transplant department of Shifa International Hospital (SIH), Islamabad. A detailed analysis for indications for pediatric LT, survival, and complications was done. RESULTS: Forty-five patients under 18 years of age underwent Living donor liver transplant (LDLT) in SIH. Median age was 9 years and M:F of 2:1. Cryptogenic liver disease followed by Wilson disease were the two most common indications of LT. The majority of patients had chronic liver disease 34 (75%) while 11 (24%) had acute liver failure. The right lobe graft was the most common type of graft 19 (42.2%). Thirty days, 1-year, 3-year, and 5-year survival was 77.8%, 75.6%, 73.3%, and 60.6% respectively. Mortality was highest in patients with biliary atresia 4 (33%). Causes of death included pulmonary embolism, sepsis, surgical complications, and acute kidney injury. Mean survival was 88.850 months (±7.899) (CI 73.369-104.331). CONCLUSION: Pediatric LDLT has offered disease-free survival for patients. Survival can improve further with nutritional rehabilitation and anticipation and management of post-operative complications.

Biliary atresia-An experience from the first pediatric liver transplant center in Pakistan.

BACKGROUND: Biliary atresia (BA) is the most common cause of neonatal cholestatic syndrome. The true incidence of BA in Pakistan is largely unknown. AIM: This study aimed to report the clinical features, age at diagnosis and outcomes of biliary atresia from the first pediatric liver transplant center in Pakistan. METHODS: The study was done in Shifa International hospital from 2013 to 2020. All babies who had biliary atresia confirmed by laboratory investigation were included. Demographic data, age of presentation, clinical presentation, supporting investigations like liver function tests, ultrasound abdomen, HIDA scan and liver biopsy were noted. Outcome related to Kasai portoenterostomy, liver transplant, complications and immunosuppressant agents were noted. RESULT: A total of 42 children were included, 23 (54.7%) males and 19 (45.2%) were females. Jaundice was seen in all patients (100%) followed by acholic stools (81%). Associated malformations were noted in 6 (14.2%) patients. Liver function tests confirmed obstructive cholestasis (p 0.04). Kasai was done in 19 (45%) patients only, living donor liver transplant was performed in 6 (14%) patients. Age range of transplant patients was from 3 months to 1 year. Indication for liver transplant was failed Kasai in 1(16.7%) patient and chronic liver disease in 5 (83.3%) patients. LDLT survivors were 10 months to 1 year of age at the time of transplant, mean age was 10.6 months. Maximum survival noted so far is 7 years. Acute complications seen post-transplant were sepsis (three patients), surgical site infections (two patients), biliary leaks and acute cellular rejection in one patient each. Chronic graft rejection, portal vein stricture needing stenting was done in one patient. DISCUSSION: All patients underwent LDLT from related donors wih no donor related mortality. All are deceased patients were yonger and had advanced disease. BA remains third most commo indication of transplant in our center. CONCLUSION: Liver transplant is the only lifesaving procedure after failed Kasai or as primary liver transplant due to advance liver disease. The advent of liver transplantation services offers survival and improving outlook of the disease.

Choledochal Cyst in Children, presentation and outcome - 10 years' experience from a tertiary care center in Pakistan.

Objectives: This study was done to compare the clinical features, laboratory findings and surgical outcomes of pediatric patients with choledochal cysts. Methods: Retrospective review of the hospital records of all pediatric patients admitted with choledochal cysts from 2011 to 2021 were collected and analyzed. Patients were divided into two groups; infant (less than one year age) and pediatric (1 to 16 years) for statistical comparison of two groups. Result: The study included 34 children, 9 (26.5%) were infant (<1 year) and 25 (73.5%) were more than one year old. Mean age at diagnosis was 15 months with age ranging from 14 days to 16 years. Females were 19 (55.9%) and males were 15 (44.1%). Type-I choledochal cyst was the most common (73.5%), presentation followed by Type-IVA (26.5%) in our patients. Patients from infant group presented with jaundice in 7 (77.7%), and clay-colored stool in 3 (33.3%) as the most common clinical features, while abdominal pain (88%), vomiting (72%), fever (32%) and pancreatitis (32%) were the frequent presentations among older age group. Post-surgical complications of excision of choledochal cyst were observed in 4 (11.7%) patients. Conclusion: Choledochal cysts have variable presentations depending upon age of the patients. Complete surgical excision of choledochal cyst is the treatment modality of choice and timely surgical management can prevent complications.

Vitamin D deficiency: A risk factor for myopia in children - a cross sectional study in a tertiary care centre.

Objective: To study the role of vitamin D deficiency as a risk factor for myopia in children aged 5-15 years. METHODS: The cross-sectional observational study was conducted from January to September 2019 at the Ophthalmology and Paediatric departments of Shifa Foundation Community Health Centre, Islamabad, Pakista. It comprised patients with suspected / symptomatic vitamin D deficiency who were enrolled from the paediatric outpatient department and referred to the ophthalmology clinics for eye exam. Apart from taking detailed ocular history, slit lamp examination, Snellen's distance visual acuity, auto-refraction to calculate spherical equivalent, and amplitude scan for measuring the axial length were performed. An average of 3 measurements was taken for both refraction and axial length calculation. Myopia was labelled if mean spherical equivalent was ≤0.25 dioptres. Vitamin D deficiency was defined as serum 25-hydroxyvitamin D level < 20ng/ml. Data was analysed using SPSS 23. RESULTS: There were 72 subjects with a mean age of 10.11±2.69 years; 37(51.4%) boys and 35(48.6%) girls. Myopia was seen in 40(55.6%) patients, while 32(44.4%) were emmetropic. The overall mean vitamin D level was 20.25±12.18 ng/ml. There was no significant association between myopia and vitamin D deficiency (p=0.115). Significant associations were found between myopia and relatively older age (p=0.005), higher height (p=0.001), more weight (p=0.001) and higher body mass index value (p=0.008). Conclusion: Low vitamin D levels were not significantly associated with myopia in children aged 5-15 years, but significant associations were found between myopia and relatively older age, and various anthropometric measures.

Risk factors, types, and neuroimaging findings in Children with Cerebral Palsy.

Objectives: Cerebral palsy is a major cause of neurodisability in children in Pakistan. The study aims to evaluate the risk factors, types and neuroimaging findings in children with cerebral palsy. Methods: All children diagnosed with cerebral palsy, between 1-16 years presenting to Shifa community health center were enrolled from January 2020 to July 2021. Informed consent was taken from parents. Results: A total of 89 patients were included, 62 (69.7%) male and 27 (30.3%) females. Mean age was 4.4 ± 2.8 years. Majority of babies were born at term 74 (84%) and 15 were preterm (16%). Most of the patients were born in hospital 55 (62%), 13 (14%) were born at home. Mean birth weight was 2.3 ± 0.3. Consanguinity was present in 56 (62.9%). Birth asphyxia 38 (42.7%) was the most common cause of cerebral palsy. Maternal antenatal risk factors identified were anemia 13 (14.6%), PIH (9%) infections (6%) were significant risk factors (<0.05). Neuroimaging was done in 37 (38.7%) of the patients only. Conclusion: Male gender is more affected in our cohort. Maternal anemia, pregnancy induced hypertension and low birth weight are significant modifiable risk factors. Prevention of these can reduce the incidence of cerebral palsy.

Frequency and types of haemoglobinopathies in children with microcytic anaemia.

OBJECTIVE: To study the frequency and types of haemoglobinopathies in children with microcytic anaemia. METHODS: The prospective study was conducted at the Paediatric Out-patient Department of Shifa Falahi Community Health Centre, Islamabad, Pakistan, from July to December, 2018, and comprised patients aged from 3 months to 14 years who had haemoglobin <10mg/dl and mean corpuscular volume <70fL. Serum ferritin and haemoglobin electrophoresis were done to check for iron deficiency anaemia and haemoglobinopathies. Data was analysed using SPSS 23. RESULTS: Of 175 subjects, 33(18.9%) had haemoglobinopathies and 142(81.1%) had iron deficiency anaemia. Thalassemia trait 18(10.3%) was the leading cause amongst haemoglobinopathies, followed by thalassemia major 8(4.6 %) and intermedia 5(2.9%). There were 2(1.1%) patients with haemoglobin D. CONCLUSIONS: The prevalence of haemoglobinopathies was high. Identification of haemoglobinopathies is important for proper treatment, antenatal screening and future genetic counselling.

Students' perception and scores in Paediatrics end-of-clerkship and final professional Objective Structured Clinical Examination (OSCE): A comparative study.

OBJECTIVES: This study aims to understand students' perception of the usefulness of end-of-clerkship (EOC) as compared to professional exam Objective Structured Clinical Examinations (OSCE) and to compare student performance in both examinations. METHODS: We conducted a cross-sectional study of medical students who were studying in the final year at Shifa College of Medicine, Shifa Tameer-e-Millat University, and appeared in both end-of-clerkship and final professional exams. The study was conducted in October 2019. The data was collected through a self-constructed questionnaire. The scores of all participants were also recorded. The data obtained was analyzed on IBM's statistical package for the social sciences (SPSS) version 23 (IBM, Armonk, NY). Descriptive statistics were used for qualitative variables. Mean and standard deviation was calculated for quantitative variables. Chi-square test was also applied to assess for significant differences. RESULTS: Out of 115 participants, 57 (49.6%) were males and 58 (50.4%) were females. Most of the participants (75.7%) agreed that both OSCEs were well-structured. Participants found that both the exams give a good cross-section of paediatrics and allowed them to learn something new (p=0.00). 45% of participants perceived that the end-of-clerkship OSCE exam helped in orienting them for the final professional exam by identifying their weaknesses. CONCLUSION: Although the EOC OSCE served as a good preparatory exercise, it did not alleviate the stress levels. However, the results in both OSCEs were comparable and students were satisfied with the current weightage of marks distribution.

Spectrum of acute, recurrent and chronic pancreatitis in children.

OBJECTIVE: To determine the clinical presentation, aetiology and outcome of pancreatitis in paediatric population. METHODS: The retrospective study was conducted at Shifa International Hospital, Islamabad, Pakistan, and comprised data of children with pancreatitis presenting between 2013 and 2018. Medical records were reviewed and findings of clinical, laboratory workup and management were noted on a specifically developed proforma. Data was analysed using SPSS 23. RESULTS: Of the 51 subjects, 28(54.9%) were boys. The overall mean age was 10.6±4.9 years. The most frequent clinical symptom was epigastric pain 39(76.5%). The most common aetiology was gallstones/pancreatic stones 19(37.25%). Mean hospital stay was 5.1±1.8 days, and it was longer in children aged up to 5 years compared to older children (p<0.05). Acute pancreatitis was seen in 23(45.09%) patients, followed by recurrent 19(37.25%) and chronic 9(17.64%). There was no mortality. CONCLUSIONS: Timely diagnosis and prompt management of haemodynamic status could lead to successful recovery without any serious complications in paediatric pancreatitis.

Etiology, clinical presentation, and outcome of children with fulminant hepatic failure: Experience from a tertiary center in Pakistan.

OBJECTIVES: To determine etiologies, clinical presentations and outcomes of children with fulminant hepatic failure in the first liver transplant center of Pakistan. METHODS: It was a retrospective, observational study, conducted in Paediatric Gastroenterology Department of Shifa International Hospital. Patients between one month to 16 years were included who fulfilled the Pediatric Acute Liver Failure study group (PALFSG) definition of acute liver failure as biochemical evidence of liver injury with no known co-existing chronic liver disease, coagulopathy not corrected by vitamin K, an International Normalized Ratio (INR) greater than 1.5 if the patient has encephalopathy, or greater than 2.0 if the patient does not have encephalopathy. The data collected was recorded on a self-constructed proforma after IRB approval. RESULTS: There were 28 patients in the study which ncluded 17 males and 11 females with a mean age of 72.86±52.50 months. The most common etiologies were Hepatitis A (29%) in isolation or co-infection with Wilson Disease, typhoid fever. It was followed by seronegative hepatitis (29%). Majority (64%) had acute presentation (7 to 28 days), jaundice (82%) being the most common symptom. Severity of encephalopathy was significantly associated with outcome (p=0.02). There were 6 (21%) patients who succumbed to death. CONCLUSIONS: The study highlights infective diseases as the predominant etiology causing fulminant liver failure in children. Our study highlights lower mortality in children.

Scimitar syndrome: A rare case of recurrent pneumonia.

Scimitar syndrome is a rare, congenital malformation. It is characterized by partial anomalous pulmonary venous connection to inferior vena cava, hypoplastic right lung along with dextroposition of the heart. Depending on the severity of the defect it can present as early as in neonatal period or incidentally later in life. Its incidence is 1-3 per 100,000 patients. We present a case of a two-year-old girl who presented with recurrent fever, cough and was later diagnosed as scimitar syndrome.

Case report on Ansa Pancreatica: An Uncommon Cause Accounting for Recurrent Pancreatitis in Children.

Acute recurrent pancreatitis is a rare entity in children. It can be caused by a number of reasons, anatomical variations being one of them. Panctreatica divisum is the most common form of ductal anomaly while ansa pancreatica has been the least studied and explored. In recurrent pancreatitis, Ansa Pancreatica was recently found to be a key risk factor. It is usually found among adult alcoholics. We submit the report of a rare but important cause of acute recurrent pancreatitis; an 11-year-old child with 2 previous episodes of pancreatitis was diagnosed with ansa pancreati ca on magnetic resonance cholangiopancreatography (MRCP). He was advised to get stenting of Pancreatic duct. To the best of our belief, only another case has been reported in the paediatric population.

Spectrum of Pediatric Autoimmune Hepatitis in a Cohort of Pakistani Children.

Background. Autoimmune hepatitis (AIH) is increasingly seen in children worldwide and it is more severe in children compared to adults. This study highlights the biochemical and clinical aspect, treatment given and outcome of the disease including pediatric liver transplantation. Study. Retrospective review (2012-2022) was done in Shifa International Hospital, Islamabad. Patients under 18 years diagnosed with AIH were included. Data related to age, gender, clinical features, laboratory investigations including liver function test, liver biopsy findings and imaging modalities were included. Results. Fifteen patients were included 7 (47%) were males and 8 (53%) females. AIH type 1 was the most common type seen in 7 (46%), AIH type 2 in 5 (33%) and seronegative in 3 (20%). Jaundice was the most common symptom. Liver biopsy showed findings characteristic of AIH. Liver transplant performed in 3 patients. Conclusion. The study highlights the varied clinical presentation of AIH in Pakistani children.

Clinical Spectrum of Hereditary Tyrosinemia Type 1 in a Cohort of Pakistani Children.

Background: Hereditary Tyrosinemia Type 1 (HT1), a rare autosomal recessive metabolic disorder, arises from fumarylacetoacetate (FAH) enzyme deficiency, resulting in toxic metabolite buildup. It manifests in acute, subacute, and chronic forms, with early diagnosis and Nitisinone treatment being vital. Objectives: The study aims to highlight the different clinical presentations of Hereditary Tyrosinemia type 1 in a cohort of Pakistani children. Design: Retrospective observational study. Methodology: All patients diagnosed with HT1 at Shifa International Hospital, Islamabad and Pak Emirates Military Hospital, Rawalpindi between 2010 and 2023 were included. Information was collected regarding age, gender, symptoms, physical signs, and laboratory results. Results: The study identified 6 cases of HT1. The average age at presentation was 8 months, with a mean delay in diagnosis of 26.8 months. Males were 4 (66.7%) and 2 (33.3%) were females. All patients had underlying liver disease presenting as abdominal distension with hepatosplenomegaly and accompanying growth failure. Four cases presented with rickets, 2 of which had hypophosphatemic rickets. Urine for succinylacetone was raised in all patients. Alpha fetoprotein was raised but hepatocellular carcinoma was diagnosed in 1 patient only. Low protein diet, and vitamin supplements were used for management. Five of the 6 patients died within 2 years of diagnosis. Conclusion: Delayed referrals and unavailability of Nitisinone are the major challenges in diagnosing and treating HT1 in Pakistan.

A novel case report of benign recurrent intrahepatic cholestasis-associated USP53 genetic mutation in a Pakistani girl.

Benign recurrent intrahepatic cholestasis is an autosomal recessive disorder presenting with intermittent episodes of cholestatic jaundice. The initial episode of benign recurrent intrahepatic cholestasis tends to occur within the first two decades of a patient's life. Episodes can occur unprompted but can often be precipitated by infections or pregnancy. We report an interesting case of a 13-year-old girl presented with recurrent intrahepatic cholestasis. The patient has a unique homozygous USP53 genetic mutation, the first patient to present with this mutation within the South Asian region. The patient was initially misdiagnosed as a case of autoimmune hepatitis, and when presenting to our set-up was diagnosed as a case of benign recurrent intrahepatic cholestasis. The patient has since been managed on medication and remains regular in follow-up, responding well to treatment.

Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries.

OBJECTIVES: Vitamin D dependent rickets type 1A (VDDR1A) is a rare autosomal recessive condition due to inactivating mutation of CYP27B1. It mimics clinically, biochemically and rediologically to nutritional and hypophosphatemic rickets. In developing countries like Pakistan, VDDR1A is often misdiagnosed as nutritional rickets or hypophosphatemic rickets due lack of free access to 1,25 (OH) 2 D level and genetic testing. This study was aimed to determine the clinical spectrum and diagnostic challenges of VDDR1A due to CYP27B1 mutation in developing countries. METHODS: Retrospective review of all cases of VDDR1A due to CYP27B1 mutation over a period of two years presenting in the Pediatric Endocrine clinic of Hameed Latif Hospital, Lahore, Pakistan. RESULTS: Six cases of VDDR1A (4 males) were identified. Mean age of clinical manifestation was 14 (9-24) months. Mean age of presentation to endocrine department was 5.5 (1.5-11.8) years. Growth failure and bony deformities were the most common presentation (n=6), followed by repeated diarrheas and abdominal distension (n=3) and recurrent fractures (n=1). All cases shared same biochemical profile of low/normal calcium, hypophosphatemia, raised alkaline phosphatase, raised PTH, normal/high 25(OH)D and tubular reabsorption of phosphate (TRP) <85%. Patients treated with calcitriol showed rapid healing as compared to those treated with 1-alfacalcidol. CONCLUSIONS: We should have a high index of suspicion of VDDR1A in rickets not responding to cholecalciferol therapy.

Primary hypertriglyceridemia induced pancreatitis in a cohort of Pakistani children.

OBJECTIVES: Primary hypertriglyceridemia is a rare condition in children. Hypertriglyceridemia induced pancreatitis is most commonly reported in adults, accounting for third most common cause after gallstones and alcohol consumption. The study aims to highlight the frequency of hypertriglyceridemia induced pancreatitis in a cohort of children presenting in a tertiary care hospital. METHODS: A retrospective review of paediatric patients with pancreatitis was conducted in Shifa International hospital, Islamabad, from 2013 to 2020. All patients under 18 years of age who fulfilled the inclusion criteria were included. Medical records of patients were checked for symptoms, signs, age, growth parameters and laboratory investigations. Patients who had HTG were reviewed in detail for family history of pancreatitis or dyslipidemias. RESULTS: We found a cohort of 6 patients with primary hypertriglyceridemia after excluding secondary causes. Out of these 6 patients, 4 (66.6%) were male and 2 (33.3%) were female. Minimum age of our patient was 2 months and maximum was 17 years with a mean age of 6.5 years. Two patients presented less than one year of age. Mean triglyceride levels was 1,599 + 523 mg/dL. Four patients (66.6%) had acute pancreatitis, one each (16.6%) had recurrent and chronic pancreatitis. Family history was positive for hyperlipidaemia in two patients who had positive consanguinity. Patients with positive family history were symptomatic at earlier age. CONCLUSIONS: This is the first study to highlight primary hypertriglyceridemia presenting as pancreatitis in paediatric population from Pakistan. All patients had triglycerides level of greater than 1000 mg/dL.

Celiac Disease With Autoimmune Hemolytic Anemia and Autoimmune Hepatitis in a Young Child: Case Report and Literature Review.

Celiac disease (CD) is a chronic autoimmune condition with intestinal and extra-intestinal features. Extra intestinal features including hematological, neurological, and endocrine symptoms are seen more frequently in elder children. A 4 years 7 months old male child presented in clinic with history of abdominal pain and diarrhea on and off for 1 year. On examination, he was hemodynamically stable, pale, and malnourished with distended abdomen. He was investigated for CD, Anti TTG IgA <0.1 (positive >10), Anti TTG IgG 13 (positive >10). To confirm celiac disease, Esophagogastroduodenoscopy (EGD) was done which was consistent with diagnosis of Celiac disease (MARSH Type 3a). Gluten free diet was advised. Later, after 12 days he again presented with jaundice, fever, anorexia, and dark colored urine and irritability. He was admitted for fulminant hepatic failure, his workup revealed direct hyperbilirubenemia, ANA +ve, and hyper IgG. Liver biopsy confirmed autoimmune hepatitis. Further workup for anemia showed reticulocyte count 7.1, LDH 423, direct and indirect coombs test was positive confirming autoimmune hemolytic anemia. Child responded well to Azathioprine and prednisolone with clinical improvement. We report a rare presentation of celiac disease with polyautoimmunity in a young child. Case reports of autoimmune hepatitis with CD patients have been reported in adult patients. Association of celiac disease with autoimmune hemolytic anemia and autoimmune hepatitis is a distinct and rare condition.

A homozygous variant in the GPIHBP1 gene in a child with severe hypertriglyceridemia and a systematic literature review.

Background: Due to nonspecific symptoms, rare dyslipidaemias are frequently misdiagnosed, overlooked, and undertreated, leading to increased risk for severe cardiovascular disease, pancreatitis and/or multiple organ failures before diagnosis. Better guidelines for the recognition and early diagnosis of rare dyslipidaemias are urgently required. Methods: Genomic DNA was isolated from blood samples of a Pakistani paediatric patient with hypertriglyceridemia, and from his parents and siblings. Next-generation sequencing (NGS) was performed, and an expanded dyslipidaemia panel was employed for genetic analysis. Results: The NGS revealed the presence of a homozygous missense pathogenic variant c.230G>A (NM_178172.6) in exon 3 of the GPIHBP1 (glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1) gene resulting in amino acid change p.Cys77Tyr (NP_835466.2). The patient was 5.5 years old at the time of genetic diagnosis. The maximal total cholesterol and triglyceride levels were measured at the age of 10 months (850.7 mg/dl, 22.0 mmol/L and 5,137 mg/dl, 58.0 mmol/L, respectively). The patient had cholesterol deposits at the hard palate, eruptive xanthomas, lethargy, poor appetite, and mild splenomegaly. Both parents and sister were heterozygous for the familial variant in the GPIHBP1 gene. Moreover, in the systematic review, we present 62 patients with pathogenic variants in the GPIHBP1 gene and clinical findings, associated with hyperlipoproteinemia. Conclusion: In a child with severe hypertriglyceridemia, we identified a pathogenic variant in the GPIHBP1 gene causing hyperlipoproteinemia (type 1D). In cases of severe elevations of plasma cholesterol and/or triglycerides genetic testing for rare dyslipidaemias should be performed as soon as possible for optimal therapy and patient management.

Wilson Disease in Children; Chelation Therapy or Liver Transplantation? A 10-Year Experience from Pakistan.

BACKGROUND Wilson disease (WD) is a rare genetic disorder with vast clinical presentations and a higher incidence in areas where consanguinity is common. Most patients can be treated with oral chelation, but some require advanced surgical intervention, like liver transplantation (LT). This study aims to review outcomes of WD patients presenting to a tertiary care center over a period of 10 years. MATERIAL AND METHODS This retrospective analysis was conducted at Shifa International Hospital, Islamabad, Pakistan. Patients <18 years who were diagnosed with WD per ESPAGHAN guidelines from 2010 to 2020 were included. Presentation, diagnosis, treatment, and LT and its complications were recorded. Follow-ups were recorded, and patients were contacted by phone in cases of interrupted follow-up. Frequencies and percentages of variables were calculated. RESULTS A total of 48 patients with WD were identified. Symptomatic disease was seen in 45 patients, with 3 diagnosed on screening. The hepatic form was common (62.2%). Mean age at diagnosis was 9.74 (range 5-17) years, 28 (58.3%) were male, while 17 (35.4%) were female. Urinary copper was increased in all patients (645.82±528.40). Oral treatment with penicillamine was given to 34 (75.5%) patients; 4 (8.9%) died while on oral treatment. Living donor LT was performed in 11 (22.9%) patients, who had a mean King's Wilson index of 11 (range, 6-14). Currently, all LT patients are alive, with maximum graft survival of 7 years. CONCLUSIONS LT offers a promising treatment with good outcomes in pediatric WD. However, timely diagnosis and management with oral chelation therapy can prolong survival without LT.

Comparison of the Clinical Outcomes of Guillain Barre Syndrome Based on Electrophysiological Subtypes in Pakistani Children.

Objective Guillain Barre syndrome (GBS) is an autoimmune-mediated, acute, symmetrical, flaccid paralysis. Guillain Barre syndrome has different electrophysiological types that carry prognostic significance and tend to differ between adults and children. This study aims to compare the clinical outcome of Guillain Barre syndrome in Pakistani children based on their electrophysiological types to help in understanding and predicting the prognosis. Study design Observational comparative study Place & duration The pediatric department, Shifa International Hospital, Islamabad; all patients with Guillain Barre syndrome seen between 2012 and 2019 Method All children aged one to 16 years in whom Guillain Barre syndrome was diagnosed based on clinical history, examination, and electrophysiological findings. Institutional review board (IRB) approval was taken and data entered on the designed questionnaire. Chi-square and non-parametric tests were applied for significant association. Results Twenty-three children were included in the study. Of these, 14 were males (60.9%) while the mean age was 5.8 (+4.5) years. Acute inflammatory demyelinating polyneuropathy (AIDP) was found to be the predominant type (9; 39.1%) followed by acute motor and sensory axonal neuropathy (AMSAN) (6; 26.1%), Acute motor axonal neuropathy (AMAN) was diagnosed in four (17.4%) patients. Six (26.1%) patients needed mechanical ventilation and 10 patients (43.5%) required intensive care unit (ICU) care. The majority of the patients (18; 78.3%) received intravenous immunoglobulin (IVIG). Conclusion The study highlights varied electrophysiological types of GBS in Pakistani children, which differ in predominance from previous studies. However, various indicators of poor outcomes that are highlighted in adults, including the older age group, need for mechanical ventilation, and electrophysiological evidence of axonal degeneration, were not significant predictors of outcome in children.