BY

DR RUKHSANA NASIM
PGR-1 FCPS
NEW RADIOLOGY DEPARTMENT SIMS/SHL
PATIENT NAME: AURANG ZAIB
AGE/SEX: 8 YRS/MALE
MOA: THROUGH OPD
DOA:15-05-2010
ADDRESS:MANKERA DISTT,BHAKKAR
PRESENTING COMPLAINTS
STIFFNESS OF JOINTS SINCE BIRTH
DEAFNESS FOR 06 MONTHS
HOPI
STIFFNESS OF JOINTS SINCE BIRTH,PROGRESSIVE
WITH NORMAL MOVEMENTS INITIALLY INVOLVING
UPPER LIMBS FOLLOWED BY LOWER LIMBS, NO
ASSOCIATD PAIN .
THERE IS PROGRESSIVE DEAFNESS FOR THE LAST
06 MONTHS, NOT ASSOCIATED WITH
OTTALGIA/EAR DISCHARGE.
C/O BLURRING OF VISION.
NO H/O SIGNIFICANT WEIGHT LOSS
NO H/O FEVER
NO URINARY, BOWL COMPLAINTS
PAST HISTORY
MEDICAL HISTORY: HAD BEEN VISITING LOCAL
GPs AND PEDIATRITIANS. REFERRED FROM DHQ
BHAKKAR WITH SAME COMPLAINTS.
SURGICAL HISTORY: NOT SIGNIFICANT.
SOCIOECNOMIC HISTORY
BELONGS TO A POOR LABOURER FAMILY

FAMILY HISTORY: FIVE BROTHERS + TWO SISTERS

TWO BOTHERS DIED IN CHILD HOOD WITH
ALMOST SAME COMPLAINTS.
BIRTH HISTORY AND IMMUNIZATION HISTORY
NVD AT HOME BY TBA .
NO H/O BIRTH ASPHYXIA
FULLY VACCINATED AS PER EPI PROGRAMME.
GENERAL PHYSICAL EXAMINATION
SHORT STATURED EIGHT YEARS OLD ILL
LOOKING BOY WITH SHORT NECK EMBEDDED
BETWEEN THE SHOULDERS SITTING
COMFORTABLY IN THE BED.
PULSE:84/MIN, BP90/60 mmHg, temp98.6F
R/R 26/MIN. PALLOR +IVE, CORNEAL HAZINESS
+IVE. JAUNDICE –ve, LYMPHADENOPATHY –ve,
ankle oedema –ve,
EXAMINATION OF HEAD &NECK
HEAD SHAPE NORMAL
CORNEAL HAZINESS
DEPRESSED NASAL BRIDGE
MALFORMED WIDELY SPACED TEETH.
SHORT NECK
EXAMINATION OF MUSKULOSKELETAL
SYSTEM
WIDENING OF WRISTS,ELBOW, AND KNEE
JOINTS.
MUSCLE BULK DECREASED.
MUSCLE TONE DECRFEASED
KNEE KNOCKING POSITIVE.
WADDLING GAIT.
CNS
HMF :INTACT
CRANIAL NERVES. ALL INTACT EXCEPT VIII CN.
MOTOR SYSTEM. INTACT
SENSORY SYSTEM INTACT
CEREBELLAR SYSTEM INTACT
CVS:
S1+S2+0

RESPIRATORY SYSTEM:
•PECTUS CARINATUM +IVE
•NVB ON AUSCULTATION

ABDOMEN
TROTUBERANT ABDOMEN WITH PALPABLE
LIVER AND SPLEEN
.
AURANG ZAIB
MCP
MUCOPOLYSAC
CHARIDOSIS

LATERAL VIEW
RADIOGRAPHS
X –RAY CHEST.
X-RAY PELVIS
X-RAY HANDS AND WRIST JOINT
X-RAY THORACO LUMBO
SACRAL SPINE
THORACOLUMBER SPINE
X-RAY SKULL
OTHER INVESTIGATIONS
CBC : NORMAL
URINE C/E :KERATIN SUPHATE +IVE
ECHOCARDIOGRAPHY: NORMAL STUDY
USG ABDOMEN: HEPATOSPLENOMEGALY.
AUDIOMETRY: NEUROSENSORY HEARING LOSS.
FUNDOSCOPY: NORMAL
SLIT LAMP EXAM: CORNEAL OPACITY +IVE B/L
DIAGNOSIS
MUCOPOLYSACHARIDOSIS TYPE-IV
MORQUIO SYNDROME
DIFFERENTIAL DIAGNOSIS

HURLER SYNDROME.
MUCOLIPIDOSIS.
OLIGOSACHARIDOSIS
MUCOPOLYSACCHARIDOSIS
Mucopolysaccharidoses are a group of metabolic
disorder caused by the absence or malfunctioning of
lysosomal enzymes needed to break down molecules
called glycosaminoglycans - long chains of sugar
carbohydrates in each of our cells that help build
bone, cartilage, tendons, corneas, skin and connective
tissue. Glycosaminoglycans (formerly called
mucopolysaccharides) are also found in the fluid that
lubricates our joints.
TYPES OF MUCOPOLYSACCHARIDOSIS
TYPE- 1 HURLER DISEASE.
 MPS1-H(HURLER SYNDROME)
 MPS1-S (SCHEIE SYNDROME)
 MPS1-HS(HURLER SCHEIE SYNDROME)
TYPE -II HUNTER DISEASE
TYPE-III SANFILLIPO DISEASE.
TYTPE-IV MORQUIO DISEASE.
TYPE-VI MAROTEAUX-LAMY DISEASE.
TYPE-VII SLY SYNDROME.
MORQUIO SYNDROME(MPS IV)
Morquio syndrome is an inherited disease of
metabolism in which the body is missing or doesn't
have enough enzymes needed to break down long
chains of sugar molecules called glycosaminoglycans
(formerly called mucopolysaccharides).
The syndrome is estimated to occur in 1 of every
200,000 births. Symptoms usually start between ages 1
and 3. A family history of the syndrome raises one's
risk for the condition
 MPS IV CONT.
Morquio syndrome is an autosomal recessive trait.
There are two forms of Morquio syndrome: Type A and
Type B.
 Type A do not have a enzyme called galactosamine-6-
sulfatase.
 Type B do not produce enough of an enzyme called
beta-galactosidase.
These enzymes are required to break down a long strand
of sugar molecules called the keratan sulfate sugar
chain. In both types, abnormally large amounts of
glycosaminoglycans build up in the body and brain, which
can damage organs.
COMPLICATIONS OF MORQUIO
SYNDROME
OBSTRUCTIVE AIRWAY DISEASE
VALVULAR HEART DISEASE
ATLANTOAXIAL DISLOCATION.
HYDROCEPHALUS
BLINDNESS
DEAFNESS
TREATMENT
DIET CONTROL.
ENZYME REPLACEMENT.
BONE MARROW TRANSPLANTATION.