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CASE REPORT
Year : 1991  |  Volume : 39  |  Issue : 2  |  Page : 78-81

Morquio syndrome (MPV IV)-A case report


Department of Ophthalmology, Faculty of Medical Sciences, Moscow, U.S.S.R, Russia

Correspondence Address:
Gulbir Singh Rekhi
Department of Ophthalmology, Faculty of Medical Sciences, Moscow, U.S.S.R
Russia
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Source of Support: None, Conflict of Interest: None


PMID: 1833319

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  Abstract 

A child, of normal intelligence, belonging to a nonconsanguineous marriage was diagnosed as MPS type IV the so called Morquio syndrome. Despite mild corneal cloudiness no other ophthalmological abnormalities were observed. Reilly granules in the leukocytes and abnormal mucopolysaccharides in urine confirmed the diagnosis.

Keywords: Mucopolysaccharide metabolism cornea


How to cite this article:
Rekhi GS. Morquio syndrome (MPV IV)-A case report. Indian J Ophthalmol 1991;39:78-81

How to cite this URL:
Rekhi GS. Morquio syndrome (MPV IV)-A case report. Indian J Ophthalmol [serial online] 1991 [cited 2020 Oct 31];39:78-81. Available from: https://www.ijo.in/text.asp?1991/39/2/78/24476



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  Introduction Top


The inherited systemic disorders of acid mucopolysac­charide metabolism are currently classified into six well defined syndromes on the basis of genetic, clinical and biochemical characteristics summarized in Table [1][2][3][4][5][6][7][8][9].The cardinal clinical aspects were first described by Morquio [2] and Brailsford [3] in 1929 and later by others [10][11][12][13][14][15][16][17][18].It is an autosomal recessively inherited error of mucopo­lysaccharide metabolism resulting in excess keratansul­ fate in urine as well as marked skeletal dysplasia. Mata­ Ion and coworkers [4] proposed that the enzymatic defect is a deficiency of chondroitin sulfate and acetyl hexos­amine sulfatase. They are characterized by the follow­ing: dwarfism, short neck, pigeon chest, lumbar kypho­sis, genu valgum, prominent maxilla, broad mouth, hy­permobility of metacarpal joints and general osteopor­osis.

Extra skeletal manifestations include neurosensory dea­fness, aortic regurgitation, abdominal herniae, hepa­tospleenomegaly and thinness of tooth enamel and caries. Neuropathy due to medullary compression may shorten the life to three to four decades. Intelligence is normal, and the trunk is short with proportionately long limbs.

The roentgenographic findings have been reviewed by L.anger and Carry [6]. Characteristic findings included odo­ nroid hypoplasia, universal platyspondyly often with a defect in anterior superior ossification in the tho aco­lumbar region, lumbar gibbus, dorsal kyphosis and wide disc spaces. Also characteristic are a long pelvis with narrowing at the acetabulae, widening of public sym­physis and flaring of the ilia. Early in life the femoral head epiphyses are normal, but in later life disappearance of the femoral head, widening of the femoral neck and a coxa valga deformity develop. The hands show shorten­ing of the metacarpals, small carpal bones (often with some absent) and the inclination of the distal portions of the radius and ulna toward each other.

Opthalmologically [1][2][3][7][8][9] such patients manifest slight cloudiness of corneal due to small dust like opacities dispersed in the stroma. The corneal involvement has little effect on vision, since most patients in the literature had a visual acuity of 6/12 or better. No other ophthal­mological abnormalities have been described. Histological studies by Ghosh and McCulloch [9] revealed intracytoplasmic vacuolization of keratocytes with a fine fibrillar substance that is also present throughout the corneal stroma and has histochemical properties con­sistant with nucopolysaccharide. Other ocular findings though less frequently reported include widely spaced orbits [20], optic atrophy [21], blurred discs [22], mydriasis and proptosis [23] secondary to cervical sympathatic irritation. With the above exceptions, a normal fundus has been the rule.


  Case report Top


The patient was a ten year old male child who was a product of a nonconsanguinous marriage. Both parents were of normal height and without features of MPS. Preganancy and delivery were without complications. Two sisters are normal. According to the history given by the parents the child had discharge from the ear off and on, the early growth and development were normal. He sat at 8 months, walked at 16 months used senten­ces at 2 years. By the age of 3 years his parents notices abnormal protrusion of the chest and took him to a general practitioner who presceibed some vitamins. The child was admitted in the hospital now at the age of 10 years the parents complaining of retarded physical gro­wth and recurrent ear discharge alongwith defective hearing.

Anthropometry:

Head Circumference 51 Cms.

Height 105 Cms.

Weight 28 Kgs.

I.Q. 102

Physical examination revealed mild kyphosis and lum­bar lordosis, a short neck so that head appeared to be sitting on the shoulders, short thorax and genu valgum.

Hypermobility of all the joints was noted. The limbs were normal in length though they appeared long in relation to the trunk. There was marked hepatosplenomegaly. A small inguinal hernia was observed on the right side.

ENT examination was normal other than chronic serous discharge from both ears. Audiometry revealed bilateral sensorineural type hearing loss.

CVS examination : Gr.lil to IV systolic murmur radiating to the neck, apex lift, ventricular type.

Pulse was water hammertype and B.P. was 145/60 mm. Hg.

ECG confirmed aortic regurgitation.

Roentgenographic Examination:

Skull was normal other than frontal bossing and there was odontoid hypoplasia. Definite flattening of vertebral bodies with beak formation in the lumbar area was seen. Additional ossification was seen anteriorly in the lumbar vertebrae and a hook shaped configuration seen par­ticularly in the thoracolumbar region. The intervertebral disc spaces were wide.

The pelvis narrowed at the level of the acetabulae giving a definite long, narrow overall pelvic configuration. The iliac wings were flared. Deficient ossification of the superior acetabulae, defective femoral capital epiphyses and marked coxa valga deformity were present. The proximal bases of metacarpals 2-5 were conical (Bullet shaped) with normal construction of metacarpal shafts. The ossified carpal bones were small and reduced in number as compared with the patients age. The planes of both the distal ulnar and radial growth plates were slanted towards each other.

Broadening of the anterior portion of the ribs (tongue shaped) was observed.

Ophthalmological Examination:

Anterior-Segment : on slit lamp biomicroscopy a diffuse corneal haze with fine dust like particles observed thro­ughout both eyes. Corneal diameter was 11 mm. in both meridians. Applanation tensions were normal. Fundus was normal in both eyes with no pigmentary changes. Vision - 6/9 B.E., N-6 B.E. Colour vision - Normal with Ishihara colour plates. Peripheral fields - Normal.

Laboratory Findings:

Haematocrit - 40%, Hb 11.8 gms %, TLC - 11,800/cumm DLC - N-6, L-42, M-1, E-1. 35 to 48% of polymorphonuclear leucocytes had intracytoplasmic sti­pling (Reilly Bodies [24]). Urinary examination revealed that he excreted 38 mg./lit. of mucopolysaccharide (Co­ntrol patient of same age and sex. excreted 10-16 mg./lit.)

The mucopolysaccharide was purified by De ferrante and Rich [25][26][27] then separated by alcohol fractionation and digestion with testicular hyaluronidase. About one third of the total mucopolysacoharide was found to be keratosulfate which is found in very small amounts, if at all in normal urine or the urine of patients with gar­goylism. Chemical analysis, hexosamine content and optical rotation all indicate thatthis is almost pure kerato­sulfate. This purified fraction migrated with keratosulfate on chromatography. Also, acid digests showed the pre­sence of galactose and galactosamine in this material which proved that the neutral sugar is galactose, not glucose.

E.C.G. findings

Rate - $0/minute, Rhythm - Regular, Axis - Normal, ORS Complex - Normal, ST segment depression in V4, V5. V5 & V6, T wave inversion in I, aVL, V4, V5 and V6. ST segment elavation in V1 and V2.

E.C.G. suggestive of Left Ventricular Hypertrophy (due to Aortic Stenosis - Aortic Regurgitation.


  Discussion Top


The different characteristic featues of various subgrou­ps of mucopolysaccharidoses are summerised in [Table - 1]

On the basis of clinical, roentgenographic and biochemi­cal studies it is clear that :­

(i) Morquio's disease is an autosomal recessive in­

herited error of mucopolysaccharide metabolism

characterized by presence of keratosulfate in urine

and Reilly bodies in cytoplasm of leucocytes.

(ii) Bone changes in this conditions are diagnostic. (iii) Corneal opacities and dental abnormalities being a

common feature with normal fundii;

(iv) Normal intelligence, dwarfism, deafness, valvular disease and hypermobility of the joints are all cor­

roborative of Morquio syndrome.

The commonest cause of death which usually occurs around the 3rd to 4th decade is due to corpulmonale, valvular heart disease or hyelopathy. Genetic counsell­ing is advisable.

 
  References Top

1.
Kenneth R. Kenyon. Harry A. Quigley et al A.J.O. 6:73, 811 - 815. June 1972.  Back to cited text no. 1
    
2.
Morquio L: Sur une forme de dystrophie Osseuse familiale. Bull Soc Pediatr (Paris) 1929:27:145-152.  Back to cited text no. 2
    
3.
Brailsford JE : Chondro-osteodystrophy, roentgenographic and clinical features of a child with dislocation of vertebrae. Am. J. Surg. 1929: 7:404-410.  Back to cited text no. 3
    
4.
Matalon R., Arbogast B, Dorfman A: Morquio syndrome: A deficiency of chondroitin sulfate n-acetylhexosamine sulfate sulfatase. Pediatr Res 1974: 8 436.  Back to cited text no. 4
    
5.
Robins MM. Stevens HF, Linker A: Morquio's disease: An abnormality of mucopolysaccharide metabolism. J Paediatr 1963: 62:881-889.  Back to cited text no. 5
    
6.
McKusick VA : Heritable Disorders of Connective Tissue, 4th ed. St Louis. CV Mosby, 1972: 583-611.  Back to cited text no. 6
    
7.
Langer LO. Carey LS: The roentgenographic features of the KS mucopolysaccharidosis of Morquio. Am J Roentgenof 1966: 97 : 1-20.  Back to cited text no. 7
    
8.
Von Noorden GK, Zellweger H, Ponseti IV: Ocular findings of Morquio­Ullrich disease. Arch Ophthalmol 1960: 64:585-591.  Back to cited text no. 8
    
9.
Ghosh M, McCulloch C: The Morquio syndrome : Light and electron microscopic findings from two corneas. Can J. Ophthalmol 1974: 9:445­452.  Back to cited text no. 9
    
10.
Brown D.O. Morquio's disease: Clincal demonstration. M.F. Australia. 1933,1,598-599.  Back to cited text no. 10
    
11.
Caffery J. Pediatric X-Ray Diagnosis. Year Book Publishers. Inc.. Chicago. 1961, pp. 887-893.  Back to cited text no. 11
    
12.
CameronJ.M.,GardinerT.B.Atypicalfamilialosteochondrodystrophy.Brit. F. Radio]., 1963, 36, 135-139.  Back to cited text no. 12
    
13.
Davis D.B., Currier F.P. Morquio's disease : report of two cases. F.A M.A.. 1934, 102. 2173-2176.  Back to cited text no. 13
    
14.
Einhorn N.H., Moore J.R., and Rowntree, L.G. Osteochondrodystrophia detormans (Morquio's disease): observations at autopsy in one case. Am. F. Dis. Child., 1946, 72,536-544.  Back to cited text no. 14
    
15.
Goidanich I.F., and Lenzi L. Morquio-Ullrich disease, new mucopolysac­charidosis. J. Bone Joint Surg... 1964, 46 A, 734-746.  Back to cited text no. 15
    
16.
Hobaek A. Problems of Hereditary Clinical and Genetic Study of 70 Cases of Hereditary Chondrodysplasia in 42 Norwegian Families. Oslo University nPress, Oslo, 1961, pp. 51-52.  Back to cited text no. 16
    
17.
Horrican W.D..Baker D.H.Garygoylism:review ofreoentgenskull changes with description of new finding. Am. J. Roentgenol., Rad, Therapy & Nuclear Med.. 1961, 86. 473-477.  Back to cited text no. 17
    
18.
Langer L.O.. Jr. Spondyleopiphyseal dysplasia tarda: hereditar chondrodysplasia with characteristic vertebral configuration in the adult Radiology. 1964. 82, 833-839.  Back to cited text no. 18
    
19.
Abraham F.A.. Yatziv S. Russell A. et al: A family with two siblings affecter by Morquio syndrome (MPS IV) Arch Opathalmol 1974: 91: 265-269.  Back to cited text no. 19
    
20.
Ruggles H.E.: Dwarfism due to disordered epiphyseal development. A.J Roentgenol 25 : 91-94, 1931.  Back to cited text no. 20
    
21.
Kenyon K. R. : Ocular ultrastructure of inherited metabolic disease it Goldberg M.F. (ed.) : Genetic & Metabolic eye disease. Boston. little browr 151:1974.  Back to cited text no. 21
    
22.
Morquio L.: Sur Une forme de :hie osseuse familiale Archives dr Medicine des Enfants 32 : 129. 1929.  Back to cited text no. 22
    
23.
Giraid G.. Bert JM: La dystropie osseuse de Morquio dens le carde des hyperlaxitis familiales. Rev. Neurol. (Paris) 63:845-856: 1935.  Back to cited text no. 23
    
24.
Reilly W.A.: The granules in the leucocytes in gargoylism. Am.. J. Dis. Child 62 : 489 - 1941 .  Back to cited text no. 24
    
25.
Di Ferrante N., Rich C. : The mucopolysaccharide of normal human urine Clin. Chem acta. 1:519. 1956.  Back to cited text no. 25
    
26.
Linker A. Evans L.R., Madsen J.A. "Problems in the analysis of urinary mucopolysaccharide excretion" Biochem. Med. 2 448, 1969,  Back to cited text no. 26
    
27.
Linker A., Evans L.R., Langer L.O.: Morquio's disease and mucopolysec charide excretion. J. Pediatr. 77 : 1039 - 1047. 1970.  Back to cited text no. 27
    


    Figures

  [Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6], [Figure - 7]
 
 
    Tables

  [Table - 1]



 

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