RADIOLOGICAL
DIAGNOSIS AND DIFFERENTIATION OF RARE CASES OF MUCOPOLYSACCHARIDOSIS
Dr. PRASHANT SHEKAR,Dr. (Mrs.)
P. S. PENDHARKAR, Prof. & Head,Dr. (Mrs.) B. D. SONAWANE,
Asso. Prof.
Dr. S. Z. SORTE, Asso. Prof.,Dr. R. R. KHANDELWAL, Hon. Asso.
Prof.,Dr. SURESH PHATAK, Hon. Asso. Prof.
Dr. DHANASHREE DANDE, Asst. Lect. DEPT. OF RADIOLOGY, INDIRA
GANDHI MEDICAL COLLEGE, NAGPUR.
CASE :
CLINICAL FEATURES : 5 years old boy
Shahrukh Khan presented with complaints of failure to grow.
ON EXAMINATION : Dwarf, depressed
nose bridge, widely separated eyes, normal cornea, normal mental
status.
BIOCHEMISTRY : Keratosulphaturia
RADIOGRAPHS :
FIGURE1
FIGURE2
FIGURE3
FIGURE4
| Spine : Vertebral bodies showing central beaking.
Universal vertebra plana
Chest broad ribs
|
Skull
: J shaped sella |
| Pelvis : Broad iliac blades narrow Caudally, irregular acetabulum
|
| Hand : Bullet shaped metacarpals Widened metaphyseal ends.
|
USG ABDOMEN : Within normal limits
SIGNIFICANCE : Rare occurance of MPS
Radiological features are
conclusive of mucopolysaccharidosis MPS
DYSOSTOSIS MULTIPLEX GROUP
This is a group of genetically determined
conditions characterised by abnormality of mucopolysaccharides
and glycoprotein metabolism presenting in early childhood, with
wide variety of skeletal, visceral and mental abnormalities.
INHERITANCE : All are autosomal
recessive except for MPS II (Hunters) which is X-linked
recessive.
PATHOGENESIS : Defective metabolism
of mucopolysaccharides which are macromolecules of uronic acids
hexosamines which are important components of ground substance of
connective tissues in cartilages, cornea, vascular walls,
subcutaneous tissues. This leads to excessive excretion of
mucopolysaccharides in urine.
COMMON CLINICAL PRESENTATION :
Usually presents in early childhood as
growth retardation.
CLINICAL FEATURES :
| Short
stature |
Mental
Retardation |
Joint
Contractrures |
Cardiovascular anomalies |
| Coarse
facial features |
Corneal
opacities |
Hepatosplenomegaly |
RADIOLOGICAL FEATURES :
HURLER'S (MPS – ID)
| RADIOGRAPH
SKULL : Macrocephaly
Thick vault with ground glass
opacity
'J' Shaped enlarged sella.
|
RADIOGRAPH
CHEST : Wide ribs
Wide short clavicles
Poorly moddled scapulae
|
| RADIOGRAPH
SPINE : Odontoid
Hypoplastic
Ovoid, hook shaped vertebral
bodies.
Inferior beaking of the bodies.
|
RADIOGRAPH
PELVIS : Iliac wings
flared with constricted bones of the iliac bones.
Small irregular femoral capital
epiphysis
Coxa Valga
|
| LONG
BONES : Genu Valgum
Thin Cortices
Lack of Normal Modelling of Bones
Coarse Trabecular pattern.
|
METACARPALS
: Short, wide
Characteristic proximal pointing.
|
DIAGNOSIS :
- Radiography is usually conclusive
- For confirmation and differentiation.
URINE ANALYSIS :
- Normal urinary excretion of
Mucopolysaccharides is 5 – 15 mg/day.
- In MPS there is abnormally
high percentage of MPS in urine which can be
detected by Biochemical analysis.
LYMPHOCYTES :
- Show Reilly bodies i.e.,
Metachromatic granules
FIBROBLASTIC CULTURES :
DIFFERENTIATION BETWEEN
HURLER'S
|
MORQUIO'S
|
| Incidence
1/10,000 births Hepatosplenomegally
common
Mental retardation profound
Urine excessive
Mucopolysacchariduria of
Chondroitin Sulphate B 80 % and Heparin Sulphate
|
1/40,000
births i.e. less common. Absent
Rare
Keratosulfaturia present at birth.
|
RADIOLOGICAL DIFFERENTIATION
|
| Radiograph
skull : Sellar
enlargement 'J' shaped Sella
|
No E/O
Sellar Enlargement |
| Radiograph
spine : Odontoid
hypoplasia
Normal or oval shaped vertebral
bodies.
Vertebral beak is inferior.
|
Absent
odontoid Universal vertebra
plana
Vertebral beak is central
|
| Long
Bones : Tapering of bones
is marked
|
Tapering
less prominent |
| Pelvis
: Acetabular irregularity
not prominent.
|
Always
seen |
Mc Kusic's Classification
of MPS
| |
MPS
|
Mental
|
Skeletal
|
Dwarf-ism
|
Corneal
|
Genetic
|
Biochemical
|
Remarks
|
I.
d valign="top" width="13%">Autosomal
recessive |
Heparitin
sulfate |
Mild
somatic; severe mental deterioration |
IV.
|
Morquio |
0/+
|
+++
|
+++
|
++ (late)
|
Autosomal
recessive |
Keratosulfate |
Severe
characteristic skeletal changes; usually unimpaired
mentally |
V.
|
