Wilson's disease: early diagnostic value of serum ceruloplasmin level to prevent chronic psychosis - case report

Wilson disease is a rare autosomal recessive hereditary disorder of copper metabolism. It is characterized by excessive deposition of copper in the liver, brain, and other tissues due to mutation in the Wilson disease protein [ATP7B] gene which leads to impaired copper metabolism. We report a case of eighteen-year-old male patient, who presented at the Out-Patient Department of Medicine Unit 1, Abbasi Shaheed Hospital. He presented with history of ataxia for 2 years along with abnormal spastic hand movements and difficulty in speech for the same time period. These symptoms remained static till 12 months but later progressed with multiple episodes of fall after which he was bedridden. On further investigation, eye examination on slit lamp showed Kayser-Fleischer ring, low total leukocyte count and ceruloplasmin level of 0.03 g/L. Ultrasound results showed hyperechoic hepatic parenchyma with no mass or abscess. This case is notable to emphasize the diagnostic value of ceruloplasmin for early diagnosis and to prevent chronic psychosis along with neurological symptoms. We aim to review the clinical presentation, diagnostic modalities and current treatment and also to highlight the treatment trials underway for Wilsons disease in adult patients

Increased frequency of pleural effusion with pneumonia in children presenting at a tertiary care hospital of Karachi

We report nine cases of children under the age of ten years with increased incidence of pleural effusion with pneumonia in two months i.e. March and April 2015 at the paediatric unit II, Abbasi Shaheed Hospital, Karachi All children were admitted in our hospital with a history of fever, with or without rigors and chills, cough and dyspnoea. In younger children nasal flaring was observed. Initial chest Xray done showed pneumonia with pleural effusion. This was followed by Chest ultra sound which revealed pleural effusion on either left or right side of the chest, depending upon the patient. Four of the patients required a thoracotomy tube for drainage of the pleural fluid. All patients were treated with intravenous antibiotics and showed improved results. Four of the nine patients required paediatric intensive care admission. We have reported these cases due to our concern in the upsurge of pleural effusion with pneumonia which was previously not seen in the paediatrics department of a tertiary care hospital of Karachi