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Case
Presentation
By
DR.MALIHA
PGR PEADSIV
HISTORY
15 years old BIBI KAFIA resident of Quetta
admitted through OPD with C/C
• Short stature
• Body aches
• Loss of appetite
• A/C to father her height normally attain at the
age of 3 years after that her height did not inc.
since then she is complaining of body aches,
fatigue, joint pain and morning stiffness but not
swelling of joint. As the time passed stiffness
relieve and she can perform her daily activity.
Conti..……..
• She is having on &off constipation and diarrhea.
She passed hard stool after 4-5 days by taking
skilax drops . When loose motion started its 5-6
episodes ,watery in nature and asso with
abdominal pain relived by taking antibiotics. No
Hx of melena .No Hx of jaundice.
• She is also having burning micturition on& off.
which is relived by taking treatment from local
GP. She notice puffiness of face early in morning
which resolves after 2-3 hours. No Hx of
hematuria & passage of sludge of stone.
Conti…….
• She is also having SOB when she walked after
taking 10-15 steps. No Hx of orthopnea and PND
and cyanosis.
• She have toothaches on & off ,swelling of gums . No
Hx of tooth extraction and dental caries.
• No Hx of blood transfusion.
• No Hx of fracture, alopecia, any lymphadenopathy
and visceromegaly.
• Hearing and vision normal.
• Menarche not be achieved yet.
• In ward child investigated as
• CBC ,urine DR, urea/creatinine
• Skeletal survey, vitamin D level, S/Calcium,
S/Phosphorus
• TSH,T3 , T4
• U/S Abdomen, Echocardiography
• Treatment given as stoss therapy and nutrition
rehabilitation.
PAST HISTORY;
• She admitted 6 years back in this ward with the
same complain for up to 1 month .she was
investigated in the form of skeletal survey then
she was diagnosed as a case of MPS.
• Hx of repeated chest infections once in a month
for which oral antibiotics and sometime
injectable were used.
• Hx of measles and chicken pox present.
• BIRTH History;
• Full term SVD with no any significant antenatal ,
natal and post natal Hx.
Family History
+ve family Hx of DM. No Hx of TB, asthma , HTN.
Feeding History
• Breast feed up to 2years . Weaning started at
1year of age in the form of family food. Now her
total calorie intake is 400-500 kcal/day.
• Vaccination ; not done.
• Developmentally ; normal, all milestone
achieved a/c to their ages.
Examinations
• A short stature child with coarse facies
• Broad nose, thick lips .
• Frontal and maxillary prominence.
• OFC=54cm
• Height=94cm
• Upper segment(US)=50cm
• Lower segment(LS)=44cm
• US:LS=1.1
• Arm span =94cm
• Arm touches mid of thigh , flat feet
A. General Physical Exam….
• Short stubby hand . widening of
metaphysis of long bone , wrist and
ankle joint.
• Knock knee with Waddling gait.
• Pigeon shape chest.
B.MANOEUVRES
• Hand together;
showing symmetry
• Arm by side with palm
forward ;showing normal
Carrying angle.
B.MANOEUVRES…..
• Thumb on shoulder shows
No overshoot=normal
• Palm up ; shows no
simian crease
• Make a fist; normal metacarpal
B.MANOEUVRES….
• Check extensibility; Normal
• Limitation of extension; +ve
B.MANOEUVRES….
• Look at back ; short neck, no webbing.
• Skin laxicity ; Normal
C.SYSTEMIC EXAMINATION
Abdomen; normal with no visceromegaly
Chest; Pectus carinatum, kyphosis, NVB
CVS; S1+S2+0
CNS; oriented to time , place and person .
Tone slightly inc.
Power 4/5
Reflexes normal
Babinski down going
INVESTIGATIONS
• CBC
Skeletal survey
• Narrow pelvis.
• Hand and feet
bone short and
stubby.
• Irregular
metaphysis.
• Flattening and
fragmentation
of radius ,ulna
& head of femur
Skeletal survey
Increase joint
space
Skeletal survey
X-ray spine
shows
Beaking of
vertebral
body . typical
feature of MPS IV
U/S Abdomen ; Normal
Urine DR;
UREA CREATININ
ECHO; Normal
OTHERS……
• Vitamin D level
• TSH, T4
Differential Diagnosis
• Mucopolysaccharidoses (MPS)
• Ehlar-Danlos syndrome (EDS)
• Mucolipidosis
• Hypothyroid
• Rickets
Mucopolysaccharidoses(MPS)
• It is hereditary , progressive disease caused by
mutation of genes, coding for lysosomal enzymes
needed to degrade glycosaminoglycains (GAGs).
Major GAG s are
• Chondroitin sulfate
• Heparan sulfate
• Dermatan sulfate
• Keratan sulfate
TYPES
Mucopolysaccharoidoses(MPS)
• Clinical features;
• Short stature,
• Genue valgum ,flat foot,Abnormal gait,
• kyphoscoliosis, pectus carinatum
• Growth retardation
• Short trunk & neck.
• Corneal deposits,
• Small teeth , frequent caries formation
• Mentally normal in type IV
MPS1;HURLER SYNDROME
MPS II; HUNTER SYNDROME
MPS II; HUNTER SYNDROME
MPS VI ;
MAROTE
AUS
LAMY
MPS TYPE IV;
MPS IV;
mps
MPS IV;
2.Ehler- Danlos syndrome
• It is a group of genetical disorders that affect
connective tissues supporting the skin, bones,
blood vessels, and many other organs and
tissues.
• Defects is a quantitative deficiency of fibrillar
collagen in connective tissues .
Clinical feature
• Skin hyperelasticity, fragility
• Joint hypermobility and dislocation.
Others features…..
• Generalized ligamentous laxity
• Poor wound healing
• Early onset arthritis
• Soft tissue calcification
▫ Mitral valve prolapse
▫ Aortic root dilatation
▫ Developmental dysplasia of the hip
▫ Clubfoot
▫ Pes planus (flat foot)
▫ Scoliosis
▫ High palate
Types
Ehlar – danlose syndrome
• Kyphoscoliosis type
(formerly type VI)
• Fragile globe of the eyes, significant skin and joint
laxity, and severe curvature of the spine (scoliosis)
are typical features. Its inheritance pattern is
autosomal recessive.
• Arthrochalsia (type VII)
• Patients are short in height and severely affected
by joint laxity and dislocations. Skin involvement is
variable. Both autosomal dominant and recessive
inheritance is possible. A skin biopsy can be used
to diagnose this disorder.
3.MUCOLIPIDOSES(ML)
• It is a rare autosomal recessive disorder that
share common clinical feature of Hurler
syndrome.
• There is deficiency of N- acetyleglucosamine-
1-phosphotransferase which involve
phosphorylation of mannose residue in lysosome.
• Deficiency of enzyme lead to accumulation of
substance inside the lysosome.So classified as
lysosomal storage diseases.
Clinical features
• Presentation at birth
• Coarse facies,
• Restricted joint movement
• Hypotonia, short stature
• Mental retardation
• Kyphoscoliosis
• Congenital dislocation of hip
• Inguinal hernia
• Gum hypertrophy
• Death early childhood.
ML……
THANK YOU

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Case presntation of Mucopolysaccharidoses

  • 2. HISTORY 15 years old BIBI KAFIA resident of Quetta admitted through OPD with C/C • Short stature • Body aches • Loss of appetite • A/C to father her height normally attain at the age of 3 years after that her height did not inc. since then she is complaining of body aches, fatigue, joint pain and morning stiffness but not swelling of joint. As the time passed stiffness relieve and she can perform her daily activity.
  • 3. Conti..…….. • She is having on &off constipation and diarrhea. She passed hard stool after 4-5 days by taking skilax drops . When loose motion started its 5-6 episodes ,watery in nature and asso with abdominal pain relived by taking antibiotics. No Hx of melena .No Hx of jaundice. • She is also having burning micturition on& off. which is relived by taking treatment from local GP. She notice puffiness of face early in morning which resolves after 2-3 hours. No Hx of hematuria & passage of sludge of stone.
  • 4. Conti……. • She is also having SOB when she walked after taking 10-15 steps. No Hx of orthopnea and PND and cyanosis. • She have toothaches on & off ,swelling of gums . No Hx of tooth extraction and dental caries. • No Hx of blood transfusion. • No Hx of fracture, alopecia, any lymphadenopathy and visceromegaly. • Hearing and vision normal. • Menarche not be achieved yet.
  • 5. • In ward child investigated as • CBC ,urine DR, urea/creatinine • Skeletal survey, vitamin D level, S/Calcium, S/Phosphorus • TSH,T3 , T4 • U/S Abdomen, Echocardiography • Treatment given as stoss therapy and nutrition rehabilitation.
  • 6. PAST HISTORY; • She admitted 6 years back in this ward with the same complain for up to 1 month .she was investigated in the form of skeletal survey then she was diagnosed as a case of MPS. • Hx of repeated chest infections once in a month for which oral antibiotics and sometime injectable were used. • Hx of measles and chicken pox present. • BIRTH History; • Full term SVD with no any significant antenatal , natal and post natal Hx.
  • 7. Family History +ve family Hx of DM. No Hx of TB, asthma , HTN.
  • 8. Feeding History • Breast feed up to 2years . Weaning started at 1year of age in the form of family food. Now her total calorie intake is 400-500 kcal/day. • Vaccination ; not done. • Developmentally ; normal, all milestone achieved a/c to their ages.
  • 9. Examinations • A short stature child with coarse facies • Broad nose, thick lips . • Frontal and maxillary prominence. • OFC=54cm • Height=94cm • Upper segment(US)=50cm • Lower segment(LS)=44cm • US:LS=1.1 • Arm span =94cm • Arm touches mid of thigh , flat feet
  • 10. A. General Physical Exam…. • Short stubby hand . widening of metaphysis of long bone , wrist and ankle joint. • Knock knee with Waddling gait. • Pigeon shape chest.
  • 11. B.MANOEUVRES • Hand together; showing symmetry • Arm by side with palm forward ;showing normal Carrying angle.
  • 12. B.MANOEUVRES….. • Thumb on shoulder shows No overshoot=normal • Palm up ; shows no simian crease • Make a fist; normal metacarpal
  • 13. B.MANOEUVRES…. • Check extensibility; Normal • Limitation of extension; +ve
  • 14. B.MANOEUVRES…. • Look at back ; short neck, no webbing. • Skin laxicity ; Normal
  • 15. C.SYSTEMIC EXAMINATION Abdomen; normal with no visceromegaly Chest; Pectus carinatum, kyphosis, NVB CVS; S1+S2+0 CNS; oriented to time , place and person . Tone slightly inc. Power 4/5 Reflexes normal Babinski down going
  • 17. Skeletal survey • Narrow pelvis. • Hand and feet bone short and stubby. • Irregular metaphysis. • Flattening and fragmentation of radius ,ulna & head of femur
  • 19. Skeletal survey X-ray spine shows Beaking of vertebral body . typical feature of MPS IV
  • 20. U/S Abdomen ; Normal
  • 23. OTHERS…… • Vitamin D level • TSH, T4
  • 24. Differential Diagnosis • Mucopolysaccharidoses (MPS) • Ehlar-Danlos syndrome (EDS) • Mucolipidosis • Hypothyroid • Rickets
  • 25. Mucopolysaccharidoses(MPS) • It is hereditary , progressive disease caused by mutation of genes, coding for lysosomal enzymes needed to degrade glycosaminoglycains (GAGs). Major GAG s are • Chondroitin sulfate • Heparan sulfate • Dermatan sulfate • Keratan sulfate
  • 26. TYPES
  • 27. Mucopolysaccharoidoses(MPS) • Clinical features; • Short stature, • Genue valgum ,flat foot,Abnormal gait, • kyphoscoliosis, pectus carinatum • Growth retardation • Short trunk & neck. • Corneal deposits, • Small teeth , frequent caries formation • Mentally normal in type IV
  • 29. MPS II; HUNTER SYNDROME
  • 30. MPS II; HUNTER SYNDROME
  • 34. mps
  • 36.
  • 37. 2.Ehler- Danlos syndrome • It is a group of genetical disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. • Defects is a quantitative deficiency of fibrillar collagen in connective tissues .
  • 38. Clinical feature • Skin hyperelasticity, fragility • Joint hypermobility and dislocation.
  • 39.
  • 40. Others features….. • Generalized ligamentous laxity • Poor wound healing • Early onset arthritis • Soft tissue calcification ▫ Mitral valve prolapse ▫ Aortic root dilatation ▫ Developmental dysplasia of the hip ▫ Clubfoot ▫ Pes planus (flat foot) ▫ Scoliosis ▫ High palate
  • 41. Types
  • 42. Ehlar – danlose syndrome • Kyphoscoliosis type (formerly type VI) • Fragile globe of the eyes, significant skin and joint laxity, and severe curvature of the spine (scoliosis) are typical features. Its inheritance pattern is autosomal recessive. • Arthrochalsia (type VII) • Patients are short in height and severely affected by joint laxity and dislocations. Skin involvement is variable. Both autosomal dominant and recessive inheritance is possible. A skin biopsy can be used to diagnose this disorder.
  • 43. 3.MUCOLIPIDOSES(ML) • It is a rare autosomal recessive disorder that share common clinical feature of Hurler syndrome. • There is deficiency of N- acetyleglucosamine- 1-phosphotransferase which involve phosphorylation of mannose residue in lysosome. • Deficiency of enzyme lead to accumulation of substance inside the lysosome.So classified as lysosomal storage diseases.
  • 44. Clinical features • Presentation at birth • Coarse facies, • Restricted joint movement • Hypotonia, short stature • Mental retardation • Kyphoscoliosis • Congenital dislocation of hip • Inguinal hernia • Gum hypertrophy • Death early childhood.