ABSTRACTS OF PAPERS PRESENTED AT THE 72ND RESEARCH MEETING OF THE MEDICAL RESEARCH CENTRE OF BOMBAY HOSPITAL ON MONDAY, 13TH DECEMBER 1999, 2.30 PM IN THE SP JAIN CAFETERIA (CONVENOR DR. HL DHAR)
1. DIAGNOSIS OF MULTIPLE CARBOXYLASE DEFICIENCY
VN Tibrewala, RS Fulsunge, MS Desai, BN Apte
Multiple carboxylase deficiency is an inborn error of metabolism in which there is defective activity of propionylCOA carboxylase, 3-methylerotonyl COA carboxylase and pyruvate carboxylase. Two distinct molecular defects can cause multiple carboxylase deficiency.
a) Deficiency of holocarboxylase synthetase and
b) Deficiency of biotinidase.
Biotinidase catalyzes the removal of biotin from the E-aminogroup of lysine, through which biotin is covalently bound to the known human carboxylases, thereby regenerating biotin for reutilisation.
But in the absence of this enzyme, Biotinidase, the biotin is not liberated for reutilization hence leading to many complications. Clinical manifestations of biotinidase deficiency are ataxia, muscular hypotonia, seizures, alopecia, periorificial cutaneous eruptions, episodic metabolic acidosis leading to the developmental delay.
Neurosensory abnormalities involving the optic and auditory nerves have recently been observed in a number of patients with this syndrome.
We describe here a case of multiple carboxylase deficiency which we have now confirmed to be lacking in biotinidase.
2.A NOVEL APPROACH TO THE DIAGNOSIS OF ENZYME DEFICIENCY
RS Fulsunge, MS Desai, BN Apte
Enzyme estimations are tricky to perform as there are a large number of factors which contribute to the final result. Invariably synthetic substrates are used for enzyme estimations. An enzyme molecule has certain unique properties such as optimum pH, optimum temperature, Km (substrate affinity), isoelectric point, electrophoretic mobility, molecular weight, quaternary structure and cofactor requirements etc.
A mutant enzyme may have no activity on the natural substrate but may be still active on a synthetic substrate. This leads to an erroneous differential classification of the subject into either a patient or a carrier or a normal individual. To overcome this problem we have now started as an additional property of the enzyme such as the heat stability and electrophoretic mobility to differentiate a defective enzyme from the normal one.
3. OSTEOPETROSIS - A CASE REPORT
RS Fulsunge, MS Desai, BN Apte
Osteopetrosis is a congenital abnormality in which bones become abnormally dense and brittle showing a marble like appearance. The disease results from the lack of the enzyme carbonic anhydrase II.
Clinical manifestations of this disease are fractures, dislocation, retardation of physical growth and mental development, renal tubular acidosis, cerebral calcifications and megacephaly visual loss and deafness is known to result from the compression of the optic and the auditory nerve.
We describe a case of a four year old child with osteopetrosis.
4. HAEMATOLOGICAL AND BIOCHEMICAL PROFILE OF HOSPITALIZED CASES OF FALCIPARUM AND VIVAX MALARIA IN CHILDREN AND ADOLESCENTS
Swati Bhave, Vijay Warad, Dhanshree Suryavanshi, SV Joshi, Shilpa Aroskar, HL Dhar
1. To see the pattern of complete blood count in malaria cases
2. To analyze various biochemical and haematological parameters to identify markers which can be used as indirect evidence of malaria if the smear is negative
3. To see incidence of typhoid and viral hepatitis in cases of malaria.
Prospective and retrospective analysis of hospitalized cases of malaria at Bombay Hospital and MRC over a five year period (1994-1998) between the age group (0-17 yrs) was done. Correlation of haematological profile and biochemical markers was done with type of malaria and age. The sample study was divided into four group viz. 1 yr. 1-5 yr. 6-12 yr., and 13-17 yr.
Out of total 234 cases 67.94% were smear positive and 32.06% were smear negative. Smear negative cases included in the study due to clinical haematological and biochemical features suggestive of malaria and their response to anti-malarials. Out of smear positive cases 61.1% were positive for P. falciparum and 38.9% were positive for P. vivax. Mixed infection was seen in 8.11% which were included in P. falciparum group.
Anaemia (Hb < 11 gm%) was seen in 65.81% (< 5 gm% in 2.99%). It was significantly more in children below 5 years of age 89%, adolescents 66.22% and in 6-12 years 48.90%. In falciparum 77.32%, vivax 66.13% and smear negative cases 49.32%. Normal WBC count (5,000-15,000/cu mm) was 83.8% in vivax, 67% in falciparum, 62.60% in smear negative. Leucocytosis (WBC > 15000/cu mm) 16% in smear negative, 11.34% in falciparum, 8.06% in vivax. Leucopenia (WBC < 5000/cu mm) was 21% each in falciparum and smear negative and 8.06% vivax. Leucocytosis was maximum in < 1 yr (35.71%); leucopenia was maximum in adolescents (52.38%). Neutrophilia was seen in 30.34%, maximum in adolescents (40.54%). A large number of our patients had respiratory symptoms mimicking URI (30.34%). Respiratory symptoms and leucocytosis was maximum below 5 years. This can lead to a misdiagnosis of bacterialrespiratory infections. Monocytosis was significant in all age groups, maximum in < 5 years (52%); vivax 50%, smear negative 44% and falciparum 41.23%, 8.55% had high retic count. Low platelets were seen in 7.69%.
Raised SGPT maximum in infants (36.84%); falciparum and smear negative 20% each. Raised bilirubin maximum in infants and 6-12 years i.e. 15% each and vivax 17.76%. LDH was raised in all types of malaria 43.16%. Thus, it is a good indirect marker in smear negative cases. CPK was raised in 10.68%, calcium < 9 gm% in 3.42%. In cases suspected of typhoid, widal (n=47), blood culture (n=78) was sent. Widal was positive in 17.54% (Titre 1:50, 1:250) but with negative blood culture suggesting a false positivity. Australia antigen in 132 cases was negative. Urine examination (n=187) showed significant pus cells in 10.69%, granular casts 2.67% RBC 6.4%. However only one case had renal failure.
1. Children of malaria presenting with respiratory symptoms can mimic viral infections. Associated leucocytosis and neutrophilia can lead to the diagnosis of bacterial respiratory infections. In such cases malaria can be missed if the physician does not keep a high index of suspicion.
2. Raised LDH, raised retic count, mild hepatic dysfunctions (raised SGPT, bilirubin), monocytosis and thrombocytopenia are good clues, as indirect evidences for malaria in cases where the smear is negative.
3. We had 17.54% incidence of false positive widal tests and no case of hepatitis B.