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Reported by Mangal Parihar, Mumbai, India
Can anyone give me a differential diagnosis for these xrays?
A four year old male child, with a valgus deformity of both knees, procurvatum and varus of the lower tibiae. he has broadening of the wrists (distal forearm). All the joints show a full range of painless movements, and the child has no problems apart from the deformity.
The spine and pelvis look normal to me, and while the hip, upper tibial and lower tibial epiphyses look abnormal, the lower femoral epiphysis looks normal to me.
The parents are "sure" that this deformity has been there for only one year. How much I can rely on them I am not sure.
What is this condition?
I finally got some time to go down to the library and read up some radiology books (yes those big fat tomes are better than the internet sometimes). One good internet source for these kind of cases is the Online Mendelian Inheritance in Man http://www3.ncbi.nlm.nih.gov/Omim/
The first thing I noticed was that my initial message revealed my mistake in using the term epiphysis in a loose/interchangeable fashion with epiphyseal plate/space. I now realise that the terms epiphysis (epiphyseal ossification center), epiphyseal plate / space / cartilage, and metaphysis should not be used interchangeably
From my reading it seems that the differential is limited to (on radiological grounds):
- Metaphyseal Chondrodysplasia, Schmid type
- Vit D resistant type of rickets
Metaphyseal chondrodysplasia is most likely because - the epiphyseal ossification centers are normal, the round bones of the hand appear normal, the spine is normal. In rickets the epiphysial ossification centers as well as the small bones of the hand & foot are likely to be affected.
Having said that, rickets needs to be ruled out by a metabolic work-up, since the two conditions are very often confused radiologically.
It's not a spondylo-anything because the spine is normal.
Unlikely to be an epiphyseal dysplasia of any type because in that case the epiphyseal centers would be irregularly ossified.
Given below are the notes I made while reading, to clear my ideas on this. It might be useful to others. Most of it is from the title mentioned in the first line, with a point or two from other texts.
Essentials of Caffeys Pediatric X-ray Diagnosis
Silverman and Kuhn, Year-Book Medical Publishers, 1996
pgs 836 to 899
Metaphyseal chondrodysplasia, type schmid
Mild manifestations, moderate, progressive shortening of stature, bowed legs.
Before epiphyseal union, radiographic examination discloses widening, cupping, and defective irregular mineralisation of the metaphyses of the tubular bones that is much less severe than in the jansen type.
Occasionally bony spicules passing into the epiphysis from the metaphysis, may be seen.
None of the disorganised metaphyseal clcification that occurs in the jansen type.
The round bones of the wrists and ankles and the epiphyseal ossification centers are not affected. Confusion with the radiographic changes of vitamin d resistant rickets often occurs.
Spondylo-metaphyseal dysplasias
Involvement of the axial skeleton (platyspondyly, sail vertebra, ballooning of disc spaces, pelvic changes)
Multiple epiphyseal dysplasia and other epiphyseal dysplasias
The most common form is the Fairbank type.
Patients come for poor growth, problems with walking or joint pains, but rarely before 2 years of age.
Diagnosis is radiographic. Ossification centers are late in appearance, small and irregularly mineralised. Usually symmetrical. at maturity, affected bone ends may become distorted as after osteochondroses.
Osteoarthritic changes are frequent in adults.
Verterbral bodies may show mild end plate deformities. Carpal and tarsal bones are also affected.
Meyer dysplasia, isolated bilateral hip involvement
Ribbing type is milder than the Fairbank type and is often referred to as the Flat epiphysis type to differentiate from the Small epiphysis type of fairbank
Pseudoachondroplasia
A special form of spondyloepiphyseal dysplasia. Short limbed rhizomelic dwarfism of late onset (2 - 4 yrs of age)
Mild to moderate spinal deformity, normal craniofacial structure slight irregularities of vertebral end plates worsen with time epiphyseal ossification centers are small and irregularly mineralised,
Spondyloepiphyseal dysplasia tarda
Short trunk dwarfism. Vertebral bodies flattened
Rickets
Normally sharply defined provisional zone of calcification fades out indistinctly into the soft tissue density of the adjacent epiphyseal cartilage. In rickets the space between the metaphysis and its poorly calcified epiphysis is deepened.
In the shaft a diffuse rarefaction develops, with coarsening of the trabecular architecture. Greenstick fractures and radiolucent transverse bands resembling stress fractures may occur.
Epiphyseal ossification centers in the carpal and tarsal bones are similar to those in the shafts - margins disappear and the spongiosa becomes osteopenic and even invisible in severe cases.
The first evidence of healing is a reappearance of the provisional zone of calcification. As healing progresses, the metaphysis becomes mineralised from the shaft toward the epiphysis, ultimately resulting in radiographic continuity of the shoft with the provisonal zone of calcification.
Vitamin D resistant rickets
The several forms of Vitamin D resistant and Vitamin D dependant rickets often dmonstrate marked lower-limb bowing in addition to metaphyseal changes resembling those in metaphyseal chondrodysplasias.
Renal Rickets
Is often associatied with a chalky appearance of the bones as well as auxiliary signs of hyperparathyroidism theat are related to the retention of phosphate by the damaged kidney
FROM: Bill Zink, MD
DATE: July 30, 2000
Symmetrical?
- Rickets?
- Metaphseal dysplasia?
Asymetrical?
- Chronic Multifocal osteomylitis?
Can we have a history? And more description of the physical exam?
FROM: Freih O. Abu Hassan, MD (Orth.)
Your case may be:
- Metaphyseal dysplasia ,most likely Schmid's Metaphyseal Chondrodysplasia.
- Ricket's but this is remote possibility.
Freih O. Abu Hassan,M.D(Orth.), FRCS (Eng.), FRCS (Tr&Orth.)
Assistant Professor of Orthopedics & Pediatric Orthopedic Surgery
University of Jordan, Amman, Jordan
E-mail: freih@joinnet.com.jo
FROM: T.M. Sunil
The condition is due to dysplasia epiphysealis multiplexa.
The proximal femur shows features of congenital coxa vara i.e., a Fairbank's triangle which is not seen in rickets.
It may however be worth also considering mucopolysaccharidosis despite a normal looking spine as this is one acquired condition which can present as multiple epiphyseal dysplasia.
T.M. Sunil
E-mail: svims@vsnl.com
FROM: Freih O. Abu Hassan, MD (Orth.)
This condition is affecting the metaphysis and the epiphysis is normal. I couldn't see signs of coxa vara nor the fairbank's triangle.
Freih O. Abu Hassan,M.D(Orth.), FRCS (Eng.), FRCS (Tr&Orth.)
Assistant Professor of Orthopedics & Pediatric Orthopedic Surgery
University of Jordan, Amman, Jordan
E-mail: freih@joinnet.com.jo
FROM: Dr L.Prakash, MS (orth) MCh (orth)
Reminds me of a mnemonic during my Post graduation days! Hope it offers a reasonable differential diagnosis!
Nutritional rickets
Uraemic osteodystrophy
Malabsorption syndromes
Metaphyseal dysplasia
Pseudo vitamin D deficiency Rickets
Hypophospatemia
Cystinosis
Renal disease
Never Underestimate Major Metaphyseal Presentations However Carefully Radiographed
Dr L.Prakash, MS (orth) MCh (orth) (Liverpool)
Director and Chief of Orthopaedics, Institute for Special Orthopaedics
E-mail: lprakash@eth.net
FROM: Sanjeev Sabharwal
DATE: July 30 2000
The differential would include all types of rickets and metaphyseal chondrodysplasia. Probably needs a metabolic workup to r/o rickets. Also get x rays of the remaining joints of upper extremity.
Regards,
Sanjeev Sabharwal
Pediatric Orthopedics
E-mail: sabharsa@umdnj.edu
FROM: K I. Idiculla
DATE: July 31, 2000
This looks like multiple epiphyseal dysplasia
Dr.Idiculla
E-mail: idiculla@omantel.net.om
FROM: G.S.Kulkarni
DATE: July 31, 2000
This is metaphyseal dysplasia. All epiphyses normal. Metaphyses of femur are involved, so also of the radius and ulna.
G.S.Kulkarni
E-mail: gsk@belgaum.com
FROM: Sandeep Patwardhan
DATE: July 31, 2000
Please consider spondyloepiphyseal dysplasia
Sandeep Patwardhan
E-mail: sanman@pn3.vsnl.net.in
FROM: Dr. Pravin Kanabar
DATE: July 30, 2000
This is multiple epiphyseal dysplasia. It is familial. Here the sibling has shown invovement of many epipyses. The baby will result in Bil. Tibia vara, Coxavara. I have a family where most of the siblings have shown Valgoid deformity of Ankles only. Amongst the family, one has shown coxa vara but no valgoid deformity of ankles. One baby is born with CTEV. Most of the members in the four generations have shown dwarfism to some extent. I have presented this problem of valgoid ankles at Varanasi during IOAICL. One patient came to me Valgoid ankles. The fibular epiphyses had not fused even at the age of 35 years. The daughter has started developing the ankle problem at the age of 10 years. The males are spared from the deformities but have general dwarfism. There are six individuals suffering from this problem. It seems that the problem is transmitted by females.
Thanks.
Pravin Kanabar, Ahmedabad.
E-mail: drkanabar@icenet.net
FROM: V.P. Bhavalkar
DATE: July 31, 2000
Is this Blount's disease or syndrome?
Anil Bhavalkar. MD, FRCS
Barbourville, KY
E-mail: bhavalka@barbourville.com
FROM: Hemant Sharma
DATE: August 2, 2000
I think it is very diff to have certain diagnosis, but "Chondrometaphysealdysplasia" is the most likely one. The reason I feel that is:
Normal epiphysis
Patient is normal at birth
Spine is normal
Head and face normal
Widening of physis seen
Though I am a bit worried about the distal radial growth plate's increased height (not the widening) and fuzziness of distal ulna. Nutritional rickets should also be considered.
I have not seen nutritional rickets but have done some work on vitamin D resistant rickets and this seems unlikely. We have also done deformity correction (what else, Ilizarov frame) in few metaphyseal dysplasia's and I am attaching x ray of a patient for you to compare. If you want I can send some more x rays of different patients as well.
I hope this helps.
Best wishes,
Hemant Sharma, MS(orth) M Ch(orth) FRCS(orth)
Musgrave Park Hospital, Belfast, Northern Ireland
Email: csona@hotmail.com
Kozlowski K, Campbell JB, Azouz ME, Sprague P. Metaphyseal chondrodysplasia, type Jansen. Australas Radiol. 1999 Nov;43(4):544-7.
Vohra P. Metaphyseal chondrodysplasia – a differential diagnosis of rickets. Indian J Pediatr. 1996 Jan-Feb;63(1):127-8.
Vohra P. Metaphyseal chondrodysplasia: a differential diagnosis of rickets. Indian J Pediatr. 1995 Jan-Feb;62(1):131-2.
