Alkaptonuria Early Detection by ror63494


									INDIAN PEDIATRICS                                                        VOLUME 31 -MAY 1994

the baby cries with the angle of mouth being     affecting multiple organ system. To our
pulled down to the sound side due to             knowledge the combination of defects which
unopposed action of depresor anguli oris         we have described in this baby has not been
muscle(2,4).                                     reported in literature.
    The importance of identifying this ano-      REFERENCES
maly is that it is associated with other con-
genital malformations in over 20% of cases,        1. Radford D.T. Truncus arteriosus and fa-
most commonly being associated with car-              cial dysmorphism. Aust Pediatr J1985,21:
diovascular anomalies and congenital dislo-           131-133.
cation of hip. Of the 44 infants with this         2. Menkes HJ. Congenital hypoplasia of the
syndrome, Pape and Pickering found 27 to              Depressor Anguli Oris muscle. In: Schaf-
have major anomaly of skeletal, genito-               fer and Avery 'Diseases of the Newborn'.
urinary, respiratory and cardiovascular sys-          6th edn. Eds Taeusch HW, Ballard RA,
tems. The disorder most commonly asso-                Avery ME. Philadelphia, WB Saunders
ciated with this facial defect is congenital          Co, 1991, p 410.
heart disease, the commonest defect being
                                                   3. Millen SJ, Baruah JK. Congenital hypop-
ventricular septal defect(2,4).                       lasia of the depressor anguli oris muscle
    In this baby, depressor anguli oris muscle        in the differential diagnosis of facial pa-
deficiency was associated with congenital             ralysis. Laryngoscope, 1983,93:1168-1170.
heart disease in the form of truncus arte-         4. Singhi S, Singhi P, Lall KB. congenital
riosus and other anomalies such as poly-              asymmetrical crying fades. Clin Pediatr
dactyly, suggesting an embryonic defect               1980, 19: 673-675.

Alkaptonuria: Early Detection                    Case Report
                                                     A one-month-old boy born to non-con-
                                                 sanguinous normal parents, was brought
                                                 with the complaint of slight alteration in
R. Khadagawat
                                                 urine color. He was the product of full term
R. Teckchandani
                                                 normal delivery. His weight, length, arm-
P. Garg
                                                 span and other anthropometric measure-
A. Arya
                                                 ments, as well as general and systemic
B. Choudhary
                                                 examination revealed no abnormality.

                                                 From the Departments of Pediatrics, J.L.N. Medical
                                                    College, Ajmer.
     Alkaptonuria is an inborn error of ty-      Reprint requests: Dr. Pukhraj Garg, Jain Colony,
rosine metabolism resulting from deficien-          Madanganj-Kishangarh 305 801. Ajmer,
cy of the enzyme homogentisic acid oxidase          Rajasthan.
which is necessary for converting homogen-       Received for publication: June 21, 1993;
tistic acid into malylaceto-acetic acid(l,3).    Accepted: November 11, 1993


    The urine was straw colored when voided       blood are minimally increased because it is
and turned dark brown to black on standing        rapidly cleared by the kidneys.
for 5-6 hours. The baby was, therefore,
                                                      Alkaptonuria is suspected clinically in
suspected to suffer from alkaptonuria. To
                                                  adults if ochronosis: dark colored spots on
confirm the diagnosis the following inves-
                                                  the sclera and diffuse dark pigmentation of
tigations were performed on freshly voided
                                                  conjunctiva, ear cartilage and nose are seen.
urine samples: (i) Addition of alkali turned
                                                  This pigmentation occurs because of bind-
the color of urine dark black within 10 min;
                                                  ing of homogentisic acid and its oxidized
(ii) Filter paper impregnated with 10%
                                                  polymer to collagen. Complications are early
sodium hydroxide turned black within 5
                                                  calcification of cardiac valves with chronic
minutes when dipped into urine; (iii) Bene-
                                                  mitral and aortic valvulitis, early general-
dict's test was strongly positive with red
                                                  ized arteriosclerosis, renal stones, chronic
brown precipitate at bottom and black
                                                  prostatitis and nephrosis. Alkaptonuria has
colored supernatent; (iv) Glucose oxidase
                                                  been reported in association with hyper-
test (with multistix) was negative; (v) Fe-
                                                  uricemia, polycythemia, Addison's disease,
hling's test was positive; (vi) Addition of
                                                  diabetes mellitus and ankylosing spondylitis
dilute ferric chloride solution drop by drop
                                                  in adults(4).
showed an evanescent violet blue color; (vii)
Addition of equal volume of ammoniacal                 So far no treatment is available to treat
silver nitrate quickly produced black pre-        the condition. Since ascorbic acid impedes
cipitate; (viii) A sensitized photographic film   oxidation and polymerization of homogen-
turned to black when urine dropped on it;         tistic acid in vitro, its use has been suggest-
and (ix) Paper chromatography of urine            ed as a possible means of decreasing pig-
demonstrated presence of homogentisic acid        ment formation and deposition(l,5), but its
and 2:4-dihydroxy phenyl pyruvic acid.            efficacy has not been established(l). Cor-
Similar tests performed on parents and other      ticosteroids have been used to prevent the
family members (elder brother and sister          disabling complications of this disorder.
of patient) were negative.                            Awareness and early detection help in
                                                  allaying parenteral anxiety. Administration
Discussion                                        of ascorbic acid right in the neonatal period
                                                  may help in preventing complications of this
    Alkaptonuria is usually an autosomal          progressive disabling metabolic disorder at
recessive disorder though in a minority of        later ages.
cases it is transmitted as autosomal domi-
nant(l,4). The aminoacids tyrosine and            Acknowledgement
phenylalanine are not metabolized beyond             The authors thank Dr. S.D. Purohit,
the stage of homogentisic acid which is,          Principal & Controller and Dr. O.P. Garg,
therefore, excreted in urine. Homogentisic        Head, Department of Pediatrics, J.L.N.
acid is a strong reducing agent, which on         Medical College, Ajmer, for permission to
exposure to atmospheric oxygen for some           publish this case report.
hours, gets converted to an oxidized poly-
mer that is black in color. Urine containing      REFERENCES
homogentisic acid, therefore, turns black           1. Rosenberg LE. Storage diseases at
on standing. Levels of homogentisic acid in            amino-acid metabolism. In: Harrison's

INDIAN PEDIATRICS                                                          VOLUME 31 —MAY 1994

       Principles of Internal Medicine, vol 2,12th       Bhardwaj B, Bhati RS, MathurMS. Report
       edn. Eds Wilson JD, Braunwald E, Issel-           of two cases of alkaptonuria. J Assoc Phys
       bacher KJ, et al. Humberg, McGraw Hill            India 1983, 31: 676-677.
       Book Company, 1991, p 1875.
                                                     4. Desai HJ, Mehta HC, Undevia SV, Tha-
  2.   O'Brien WM, Ladu BN, Bunim JJ. Bio-
                                                        kore HR, Shah RM. Alkaptonuria with
       chemical, pathological and clinical aspects
                                                        diabetes mellitus—A case report. Indian
       of alkaptonuria: Review of world litera-
                                                        J Med Science 1978, 32: 77-79.
       ture from 1584 to 1962. Am J Med 1971,
       25: 253-258.                                  5. Ghai OP. Essential Pediatrics, 2nd edn.
  3.   Choudhary HR, Gokhroo RK, Arora SK,              New Delhi, Interprint, 1990, p 393.

Efficacy of Halofantrine                             five per cent of the total cases of malaria
in Malaria                                           in our country occur in children below 15
                                                     years of age(2). Of late, more and more
                                                     cases appear to be resistant to chloroquine
                                                     and also to other antimalarials(3). This is
                                                     particularly so with Plasmodium falciparum
H.G. Bilolikar                                       malaria(4). In India, chloroquine resistant
A.C. Bagade                                          strains of P. falciparum were demonstrated
MA Phadke                                            in 19 states of the country in 1986(5).
P.S. Gambhir                                         Halofantrine, a phenanthrene-methanol, is
                                                     an orally administered schizonticidal drug,
                                                     effective against both chloroquine sensitive
                                                     and resistant strains of Plasmodia. We report
   Malaria continues to be a major health            our results with 46 children suffering from
problem in the tropical countries. In India,         malaria treated with halofantrine using a 3
about 2 million suffer from the disease every        dose regimen of 8 mg/kg 6 hourly(6,7).
year; the reported cases in 1989 being
20,17,823 with 268 deaths and in 1990,               Material and Methods
17,77,263 cases and 222 deaths(l). Thirty                Forty six children suffering from mala-
                                                     ria caused by Plasmodium vivax and/or
From the Department of Pediatrics, B.J. Medical      Plasmodium falciparum or Plasmodium
   College and Sassoon General Hospitals, Pune       ovale were included. The children attended
   411 001.
                                                     the Outpatient Department or were admit-
Reprint requests: Dr (Mrs) M.A. Phadke, Professor    ted to the Pediatric ward of Sassoon Gen-
    and Head of the Department of Pediatrics, BJ.    eral Hospitals, Pune. The criteria used for
    Medical College, Pune 411 001.
                                                     selection were history of fever and the
Received for publication: September 23, 1992;        presence of malarial parasite on peripheral
Accepted: February 23, 1994
                                                     smear (gametocytes or asexual forms).


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