BYDR RUKHSANA NASIM

PGR-1 FCPSNEW RADIOLOGY DEPARTMENT SIMS/SHL

PATIENT NAME: AURANG ZAIBAGE/SEX: 8 YRS/MALEMOA: THROUGH OPDDOA:15-05-2010ADDRESS:MANKERA DISTT,BHAKKAR

PRESENTING COMPLAINTSSTIFFNESS OF JOINTS SINCE BIRTHDEAFNESS FOR 06 MONTHS

HOPISTIFFNESS 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 LOSSNO H/O FEVERNO URINARY, BOWL COMPLAINTS

PAST HISTORYMEDICAL HISTORY: HAD BEEN VISITING

LOCAL GPs AND PEDIATRITIANS. REFERRED FROM DHQ BHAKKAR WITH SAME COMPLAINTS.

SURGICAL HISTORY: NOT SIGNIFICANT.

SOCIOECNOMIC HISTORYBELONGS 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 HISTORYNVD AT HOME BY TBA .NO H/O BIRTH ASPHYXIAFULLY VACCINATED AS PER EPI

PROGRAMME.

GENERAL PHYSICAL EXAMINATIONSHORT 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, temp98.6FR/R 26/MIN. PALLOR +IVE, CORNEAL

HAZINESS +IVE. JAUNDICE –ve, LYMPHADENOPATHY –ve, ankle oedema –ve,

EXAMINATION OF HEAD &NECKHEAD SHAPE NORMALCORNEAL HAZINESS DEPRESSED NASAL BRIDGEMALFORMED WIDELY SPACED TEETH.SHORT NECK

EXAMINATION OF MUSKULOSKELETAL SYSTEMWIDENING OF WRISTS,ELBOW, AND KNEE

JOINTS.MUSCLE BULK DECREASED.MUSCLE TONE DECRFEASEDKNEE KNOCKING POSITIVE.WADDLING GAIT.

CNSHMF :INTACTCRANIAL NERVES. ALL INTACT EXCEPT

VIII CN.MOTOR SYSTEM. INTACTSENSORY SYSTEM INTACTCEREBELLAR SYSTEM INTACT

CVS:S1+S2+0

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

ABDOMEN TROTUBERANT ABDOMEN WITH PALPABLE LIVER AND SPLEEN

.

AURANG ZAIBMCP

MUCOPOLYSACCHARIDOSIS

LATERAL VIEW

RADIOGRAPHSX –RAY CHEST.

X-RAY PELVIS

X-RAY HANDS AND WRIST JOINT

X-RAY THORACO LUMBO SACRAL SPINE

THORACOLUMBER SPINE

X-RAY SKULL

OTHER INVESTIGATIONSCBC : NORMALURINE C/E :KERATIN SUPHATE +IVEECHOCARDIOGRAPHY: NORMAL STUDYUSG ABDOMEN: HEPATOSPLENOMEGALY.AUDIOMETRY: NEUROSENSORY HEARING

LOSS.FUNDOSCOPY: NORMALSLIT LAMP EXAM: CORNEAL OPACITY +IVE

B/L

DIAGNOSISMUCOPOLYSACHARIDOSIS TYPE-IVMORQUIO SYNDROME

HURLER SYNDROME.MUCOLIPIDOSIS.OLIGOSACHARIDOSIS

DIFFERENTIAL DIAGNOSIS

MUCOPOLYSACCHARIDOSISMucopolysaccharidoses 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 MUCOPOLYSACCHARIDOSISTYPE- 1 HURLER DISEASE.

MPS1-H(HURLER SYNDROME) MPS1-S (SCHEIE SYNDROME)

MPS1-HS(HURLER SCHEIE SYNDROME)TYPE -II HUNTER DISEASETYPE-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

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.

MPS IV CONT.

OBSTRUCTIVE AIRWAY DISEASEVALVULAR HEART DISEASEATLANTOAXIAL DISLOCATION.HYDROCEPHALUSBLINDNESS DEAFNESS

COMPLICATIONS OF MORQUIO SYNDROME

TREATMENTDIET CONTROL.ENZYME REPLACEMENT.BONE MARROW TRANSPLANTATION.