MORQUIO’S SYNDROME

INTRODUCTION

• Morquio syndrome also known as Muccopolysaccharides Type IV (MPS IV).

• It is a rare metabolic disorder in which the body cannot process certain type
of sugar molecules called glycosaminoglycans.
• The specific GAG’s which build up in the body is called keratan Sulfate
• It is inherited from an autosomal recessive inherited gene.Every person has
two copies of genes needed to break down keratan sulfate,but only one
healthy copy is needed.
• BUT in this syndrome both the parents pass down one defective copy to
their child,resulting in a child with no functional copies.
• As such the body is incapable of breaking down keratan sulfate for disposal
• This incompletely broken GAG’s remain stored in cells of the body,
causing progressive damage.
which leads to :
1. Short stature
2. Abnormal bone and spine development
3. Knock knees
4. Large head
5. Wide spaced teeth
Demographic data

Name- Appasaheb karande

Age-4 years
Gender-male
Address- Dehugav , vitthalwadi
DOA-24 Nov 19
DOE-18 Dec 19
DOS-12 Dec 19
Chief Complaint-B/L knee pain i.e operated site since 8 days
History of Present Illness
AS GIVEN BY MOTHER

• The child had a normal growth till his 3 years of age, then when the child started standing and

walking, his parents observed that he couldn’t walk normally due to some deformity ( knock knees )

at both of his knee which was previously observed in their 1st child too. So they approached their

family doctor ,the doctor advised the parents to tie him a strap over the knee , but that didn’t work

so they came to kamla Nehru hospital. The doctor over here advised for some investigation.

Investigations were done, and he underwent a surgery . After surgery now the patient for slab .
Pain History

• Onset-sudden
• Site-both knees
• Type-dull aching
• Character-continuous
• Intensity- On Activity
At Rest-

• Aggravating factor-any movement of leg

• Relieving factor-Rest
Past History
• Drug history- Syrup. Ibuprofen-to relieve pain
Syrup. Calcimax-D
TAB. Trypsin bromelian-anti inflammatory
• Family history-
The 1st child suffered from the same deformity in both of his
knees, which was operated
Personal History
• Sleep-Disturbed due to pain
• Diet-Mixed
• Apetite -Normal
• Bowel-clear
• Bladder-continent
Socioeconomic Status

• Total family members-4

• Total earning members-1
According to modified kuppuswamy scale,
Education score-1
Occupation score-1
Income score-12
He belongs to lower middle class
General Examination

• PR-86beats/min
• RR-17 breathes/min
• Pallor-absent
• Oedema - absent
• Lymphedenopathy -absent
• Icterus-absent
• Clubbing-absent
• Cynosis-absent
Environmental history
• Resides at ground floor with 2 steps at entrance.
• Has Indian toilet system.
• His school is far away from his residential area
LOCAL EXAMINATION

ON OBSERVATION
ATTITUDE of limb- Patient was in supine position
patients hip was slightly flexed and medially rotated,
both knees were in fixed flexed position
and ankle in dorsiflexed position .
ON PALPATION
Tenderness-Present (grade 1) at medial aspect of both the knees
PRE OPERATIVE ASSESSMENT
• ROM
JOINT RIGHT LEFT
HIP
Flexion NAD NAD
Extension NAD NAD
Abduction NAD NAD
Adduction NAD NAD
KNEE
Flexion 10 to 90 15-90
Extension FIXED FLEXION
• LIMB LENGTH
TYPE RIGHT LEFT DIFF
APPARENT 41cm 41cm

TRUE
(segmental)
FEMORAL- 12cm 12cm
TIBIAL 10cm 10cm
INTERPRETATION-THERE WAS NO LIMB LENGTH DISCREPANCY
 POST OPERATIVE ASSESSMENT
JOINT ENDFEEL ENDFEEL
RIGHT LEFT
HIP active passive Active passive
Flexion 0-60 0-65 empty 0-70 0-75 empty
abduction 0-20 0-25 empty 0-30 0-35 empty
adduction 0-20 0-20 empty 0-20 0-30 Empty

INTERPRETATION-There was reduced ROM in right limb than the left lower limb
MMT
MUSCLES RIGHT LEFT
HIP Flexors 2 2
abductors 2 2
adductors 2 2

INTERPRETATION : There was reduced muscle strength in both the limbs

• LIMB LENGTH
TYPE RIGHT LEFT diff
APPARENT 39 cm 39 cm

TRUE
• Femoral 10cm 9.5cm 0.5
• Tibial 9cm 9cm
INVESTIGATIONS
• Xrays of hip joint and pelvis,knee joint were taken.
• Haematology (no abnormal findings)
• Metabollic studies- urine GAG Quantitative reports showed excessive
excretion of keratan sulphate
PRE-OPERATIVE
POST- OPERATIVE
DIFFERENTIAL DIAGNOSIS-
Hurler syndrome (MPS-I)
Hunter syndrome (MPS-II)
Morquio syndrome (MPS-IV)
PROVISIONAL DIAGNOSIS
Morquio syndrome (MPS-IV)
ICIDH2
• STRUCTURAL IMPAIRMENT CLINICAL REASONING
• Suture present 1. DUE TO SURGERY
• Widely spaced teeth 2. GENETIC:AUTOSOMAL

RECESSIVE DISORDER OF

• Coxa vara Y CHROMOSOME

Genu valgum 3. CARTILAGE FORMATION

DISRUPTED
• FUNCTIONAL CLINICAL REASONING
1. Pain 1. Due to suture present
2. reduced ROM 2.due to pain
3. Reduced strength of muscle
4. Fixed flexion deformity
• ACTIVITY LIMITATION-
BADL’S – Affected
INSTRUMENTAL-Affected

• PARTICIPATION RESTRICTION-
PERSONAL-Affected
ECONOMICAL-unaffected
SOCIAL-unaffected
• BUFFERS BARRIER
Good family support Genetic disorder
co-operative
Willing for treatment
Goals

SHORT TERM GOALS LONG TERM GOALS

• Improve ROM of knee
• Parents education
• Maintain ROM of other joints
• Suture care • Improve strength
• Reduce PAIN • Balance training
• Breathing exercise • Gait training
• Bed transfers
• Maintain ROM of other joints
• Make the patient functionally
• Prevent knee from fixed flexion deformity
independent
MANAGEMENT