Morquio syndrome (MPV IV)-A case report

Gulbir Singh Rekhi

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CASE REPORT

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

Morquio syndrome (MPV IV)-A case report

Gulbir Singh Rekhi
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

Source of Support: None, Conflict of Interest: None

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PMID: 1833319

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 2023 Jun 10];39:78-81. Available from: https://journals.lww.com/ijo/pages/default.aspx/text.asp?1991/39/2/78/24476

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Introduction

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

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

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

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