Asif lrfan.
Association of Low-Grade Fever with Alkaptonuria: A Rare Metabolic Disorder.
J Coll Physicians Surg Pak Jan ;10(9):342-3.

Alkaptonuria is a rare metabolic disorder. Various associations with rare problems have been reported. Our patient has been running low-grade fever since birth. Such an association has not been reported before.

Case Report: Miss MNS is a 19 years old patient who was born to consanguineous parents on 29th of June 1990. Since birth, her mother noticed a dark discoloration of urine 16 to 20 minutes after voiding. She received her E.PI. vaccination according to standard regimen. Her milestones of development appeared to be normal.For the first three years of her life she had history of repeated episodes of abdominal pain and loose stools. She was admitted twice to the pediatrics ward with the diagnosis of acute gastroenteritis. These attacks did not occur after the third year of life.Since birth she has a recorded temperature of 99°-100° F. The temperature rises at midday and comes back to normal in the evening. In 1984, she was admitted to the ward with a discharge diagnosis of pyrexia of unknown origin (reports were not available). Her outpatient records show that she has taken numerous courses of antibiotics labeling her as a case of upper RTI, UTI etc. (Laboratory reports were not available). Inspite of this (documented) rise in temperature every day, she is quite well-built and enjoys good health.In 1986, a radiologist reported her X-ray chest as having patchy shadows in both upper zones and right paratracheal shadows. Antituberculosis treatment was planned but not given. In 1987,she received a nine months course of antituberculous therapy but her temperature remained in the same range. In 1990, a lymph node was picked up in the cervical region and biopsy was done. The histopathology report reviewed by two pathologists showed `Reactive Hyperplasia.For the last one year she complains of backache and pain in the knee joints. Her general physical examination did not reveal any abnormality. Her sclera and the ear cartilage were normal. She had a temperature of 99° F.Federal Government Services Hospital, Islamabad, Pakistan. Received March 24, 2000; accepted August 3, 2000.

With respect to CVS, the pulse was normal, B.P. was 110/70 mm Hg. Apex beat was normal, there were no thrills. On auscultation there was a 2/6 mid systolic murmur at the right second intercostal space at parasternal border, radiating to the carotids. Examination of the respiratory system and abdomen was normal. Examination of the central nervous system was unremarkable. There was no visible swelling of the joints.Routine investigations like blood complete picture, urine examination, X-ray chest, PA view were normal. Investigation` to rule out any cause for a raised body temperature like blood culture and sensitivity, Brucella antigen, Widal test, Ultra sonography of the abdomen were normal. Thyroid profile was within normal limits. Echocardiogram did not show any, abnormality of the aortic valve, vegetations, or left ventricle hypertrophy. These were done one year apart. X-rays of knee and the lumbar spine were normal.Specific investigations for acute intermittent porphyria done during the episode of abdominal pain while admitted to ward were negative. Metabolic screening of the urinestool were done. A positive reaction to ferric chloride, sodi hydroxide and silver nitrate were noted. Test for reducing stances specifically for homogentisic acid was positive

PakMediNet -Pakistan's largest Database of Pakistani Medical Journals - http://www.pakmedinet.com