A rare case of MPS - Mohammad Sadiq

In the Name of God, Most Gracious, Most Merciful : 

In the Name of God, Most Gracious, Most Merciful

A RARE CASE OF MUCOPOLYSACCHARIDOSIS : 

A RARE CASE OF MUCOPOLYSACCHARIDOSIS By- Mohammad Sadiq Final yr. M.B.B.S. Meenakshi Medical College & Research Institute

WHY??? : 

WHY??? Rickets ? Cretinism ? MPS ? THE DILEMMA

CASE REPORT : 

CASE REPORT PAIN: S- Pre-existing caries tooth, upper & lower last molars O- Acute C- Throbbing R- No radiation A- Aggravated by eating, Relieved by saline mouth wash T- 4-5 times a day E- No emotional outbursts S- Sleep disturbance, Dysphagia + HISTORY C/O Pain in the jaw – 2 days Bony deformities

CASE REPORT : 

CASE REPORT H/O recurrent URI 2 yrs ago – measles 1 yr ago – jaundice 1 month back – jaw swelling (Lt side) PASTHISTORY BIRTHHISTORY 20 consanguineous parent Previous H/O MTP due to congenital anomalies of baby No other relevant antenatal history Normal delivery Birth wt. 2.5kg Breast fed adequately

CASE REPORT : 

CASE REPORT Sitting with support – 1yr (walks without support by 1 Yr) Language milestones delayed 1- 2 words only (tells a meaningful sentence by 3yrs) Intelligence impaired (clinically) DEVELOPMENTALHISTORY DIETARYHISTORY Calories: 640/1150 kcal/day Protein: 27.8/40g/day

CASE REPORT : 

CASE REPORT Short Statured (84cm/101cm) Short neck but NO WEBBING Caries tooth + Anaemic Fontanelles not yet closed Coarse cry Hypertelorism Deafness Frontal bossing Coarse facial features (Non GROPTOUS looking) GENERAL EXAMINATION

GENERAL EXAMINATION : 

GENERAL EXAMINATION

GENERAL EXAMINATION : 

GENERAL EXAMINATION Kyphoscoliosis Manus varus Knock Knees Pectus carinatum Umbilical hernia

SYSTEMIC EXAMINATION : 

SYSTEMIC EXAMINATION Speech not developed Intelligence less than chronological age Sensory, motor system normal, no cerebellar signs, reflexes normal CNS CVS AI normal position S1,S2heard no murmur RS Trachea midline, NVBS, Creps, wheeze + PA Distended Umblical hernia + Hepatomegaly +

INVESTIGATIONS : 

INVESTIGATIONS Hb% - 7.7g% TC – 17,600 cells/mm3 DC – P 29, L 63, E 08 S.Calcium: 10mg/dl S.Phosphate: 5.5mg/dl S.ALP: 264IU/l Thyroid profile: NORMAL Skeletal survey Cetrimide test - NEGATIVE

SKELETAL SURVEY : 

SKELETAL SURVEY

SKELETAL SURVEY : 

SKELETAL SURVEY

CLINICAL DIAGNOSIS : 

CLINICAL DIAGNOSIS A case of Mucopolysaccharidosis, of Type IV (Morquio’s) Symptomatic treatment Broad Spectrum antibiotics Bronchodilators Iron supplements Referred for orthodontic treatment to Meenakshi Dental College, Maduravoyal. TREATMENT ADMINISTERED:

DISCUSSION : 

DISCUSSION MUCOPOLYSACCHARIDOSES

DISCUSSION : 

DISCUSSION Inborn errors of metabolism Autosomal recessive inheritance Lysosomal enzyme defect MUCOPOLYSACCHARIDOSES Mutation in a gene encoding a lysosomal hydrolase involved in the degradation of one or more GAGs Defective lysosomal hydrolase Accumulation of substrate in various tissues, including liver, spleen, bone, skin & CNS

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MPS – CLASSIFICATION

DISCUSSION : 

DISCUSSION TYPE IV – MORQUIO’S Instability of the odontoid process Genu valgus Kyphosis Growth retardation – short trunk/neck Waddling gait Corneal clouding Hepatomegaly Cardiac valvular diseases Small teeth with thin enamel – freq. caries SKELETAL EXTRA SKELETAL:

DISCUSSION : 

DISCUSSION Urine testing for Keratan sulphate & Chondroitin sulphate Galactose 6-sulphatase & ß Galactosidase enzyme assays (Serum, WBC, cultured fibroblasts) Tissue biopsy – electrophoretic analysis of GAG DNA tests Prenatal diagnosis – Aminocentesis & Chorionic villous biopsy INVESTIGATIONS

DISCUSSION : 

DISCUSSION Mostly CONSERVATIVE Ventriculoperitoneal shunting – Hydrocephalus Posterior spinal fusion – Instability of odontoid process Corneal transplant – Corneal opacities Valvular surgeries – Valvular diseases Hearing aids – Deafness. MANAGEMENT ENZYME REPLACEMENT using RECOMBINANT ENZYME – Holds a promising future

DISCUSSION : 

DISCUSSION TYPE I : Bad Survive upto 2nd decade of life Arrhythmias is commonest cause of death TYPE IV : Better Survive upto 3rd – 4th decade of life Mostly due to CVS complications PROGNOSIS In conclusion . . .

Slide 23: 

ACKNOWLEDGEMENTS Prof. Ganapathy Dean Meenakshi Medical College & Research Institute

Slide 24: 

ACKNOWLEDGEMENTS Prof. Chandrashekar Prof & HOD Dept. of Physiology Meenakshi Medical College & Research Institute

Slide 25: 

ACKNOWLEDGEMENTS Prof. Ravindran Professor Dr. Kavitha Asst. Professor Dept. of Paediatrics Meenakshi Medical College & Research Institute

Slide 26: 

ACKNOWLEDGEMENTS Dr. Parthiban Asst. Professor Dept. of Radiology Meenakshi Medical College & Research Institute

Slide 27: 

ACKNOWLEDGEMENTS Dr. V.R.Prakash Asst. Professor Dept. of Biochemistry Meenakshi Medical College & Research Institute