ABSTRACT
OBJECTIVES: To determine the frequency of clinical presentation and laboratory profile in the diagnosis of the etiological spectrum of neonatal cholestasis. MATERIAL AND METHODS: In this prospective cross-sectional study, we recruited children who presented with jaundice and direct hyperbilirubinemia with onset in the first three months of life. The study was conducted between April 2019 to March 2021 (24 months) at the Government Lady Reading Hospital of Khyber Pakhtunkhwa province in Pakistan. The diagnosis was based on history and clinical findings that included jaundice, stool color, itching, abdominal distention, and deranged liver function tests and confirmed on liver biopsy and specific diagnostic tests. Data was recorded and analyzed using SPSS version 20 (IBM Corp., Armonk, NY). RESULTS: A total of 90 children were included in the study, out of which 65.6% were male. The average age was recorded as 118.01 days + 118.1 SD. Jaundice, dark urine, and hepatomegaly were found in 85.6% of children while ophthalmologic disorder, congenital heart disease, and itching were the least common symptoms. Laboratory findings of the cholestasis patients showed high bilirubin (mean: 8.88 mg/dL), alanine transaminase (ALT) (mean: 177.48 IU/mL), aspartate transaminase (AST) (mean: 187.11 IU/mL), gamma-glutamyl transpeptidase (GGT) (mean: 187.66 IU/mL) and prolonged international normalized ratio (INR) (mean: 2.20) in majority of patients. The genetic and metabolic disorder was the leading cause found in the majority of children, which was 43.8%. CONCLUSION: The common causes of neonatal cholestasis in this study are galactosemia, idiopathic hepatitis, and biliary atresia. The common presentation includes jaundice, hepatomegaly, direct hyperbilirubinemia, raised liver enzymes, and INR.
ABSTRACT
OBJECTIVE: To determine the relative frequency and clinical features of different varieties of mucopolysaccharidosis. STUDY DESIGN: Descriptive study. PLACE AND DURATION OF STUDY: Department of Pediatric Gastroenterology, Hepatology and Nutrition, The Children's Hospital and The Institute of Child Health, Lahore, from January 2013 to December 2015. METHODOLOGY: All patients who had any feature suggestive of mucopolysaccharidosis were screened with detailed history, clinical examination and skeletal survey. Urine samples for glycosaminoglycan (GAGs) levels and dried blood samples for enzyme analysis were sent. Patients who were confirmed to be suffering from mucopolysaccharidosis were included in the study. The data was analysed using SSPS version 20. RESULTS: A total of 90 confirmed MPS cases, 52 males and 38 females, median age 42 months, were included. Hurler/Hurler-Scheie syndrome was the most frequent (75, 83.33%) followed by Morquio (6, 6.67%), Sanfilippo (5, 5.56%), Maroteaux-Lamy (3, 3.33%) and Hunter (1, 1.11%) syndromes. Consanguinity was present in 79 (87.78%) cases. Common features were hepatomegaly (80, 88.89%), coarse facies (70, 77.78%), splenomegaly (67, 74.44%), and bone disease (48, 53.33%). CONCLUSION: Most common variety of mucopolysaccharidosis was Hurler/Hurler Scheie followed by Morquio syndrome. Most of the patients were born to consanguineous parents. Common clinical features were coarse facies, hepatosplenomegaly and dysostosis multiplex.
