Weekly Case

Title : case 208

Age / Sex : 19 / M




Age / Sex : 13 month / Female



Chief complaint : Limping

Labaratory finding
:

     
ALP : 1107 IU/L
(normal: 60-300 IU/L)

     
Calcium : 9.1
mg/dL (normal: 8.6-10.0 mg/dl)

     
Phosphorus : 2.7
mg/dL (normal: 2.7-4.5 mg/dl)

     
PTH : 269 pg/ml
(normal: 9-55 pg/ml)




1) What is your impression?



Two weeks later, you can see the final diagnosis with a brief discussion of
this case.



* Send Application Answers to In Sook Lee, MD (lis@pusan.ac.kr)



Courtesy : So-yeon, Lee,

Kangbuk Samsung Hospital,
Sungkyunkwan University School of Medicine










Diagnosis:

Rickets, Vitamin D deficiency



Discussion




Findings: Radiographs
of both hands and both lower extremities revealed absence of the radiopaque
fine line along physis representing the zone of provisional calcification. The
physeal surfaces show cupping, fraying and irregularity. There is bowing of
tibial shafts.



 



Diagnosis: Rickets,
Vitamin D deficiency



 



Discussion: Rickets
is a group of diseases of infants and children caused by an insufficiency of
vitamin D. The major effect of vitamin D is to increase absorption of calcium
and phosphorus from the intestinal tract. In the skeleton, major roles of
vitamin D are the mobilization of calcium and phosphorus from previously formed
bone and the promotion of maturation and mineralization of the organic matrix.
Deficiencies and diseases of vitamin D metabolism cause poor mineralization of
oteoid and the arrest of new bone formation. When this happens in a bone already
formed, it results in a condition of osteomalacia. During childhood,
insufficiency of vitamin D causes a failure of the growth and alteration of the
epiphyseal complex including metaphysis, physis and epiphysis. This form of
osteomalacia is known as rickets.  



The radiologic
findings of rickets often precede the clinical manifestations. The classic radiologic
findings of rickets occurs at the metaphyses of the most rapidly growing bones.
Failure to transform growing cartilage into mineralized cartilage and osteoid
results in cupping, fraying and irregularity of the physeal surface. Failure of
mineralization of the zone of provisional calcification results in loss of the
Laval-Jeantet ring – the straight area at the metaphyseal margins in infrants.
There is loss of normal cortical distinction as results of secondary
hyperparathyroidism. There are loss of definition of the margins of the epiphyses
and longitudinal widening of the physis. There may be small ossification
center. There often is bowing of the femoral and tibial shafts. Frayed and
widened anterior rib ends are often present on chest radiographs.



 



References:



1.     Mankin HJ. Rickets, osteomalacia, and renal
osteodystrophy. Orthop Clin North Am 1990;21:81-96



2.     Rosenberg AE. The pathology of metabolic bone disease.
Radiol Clin North Am 1991;29:19-36





Correct Answer
Name Institution
total applicants 19
correct answer 14
정진영 삼성서울병원
김혜린 삼성서울병원
공근영 자생의원
송숙연 (전공의) 이대목동병원
노경민 (전공의) 이대목동병원
윤민아 서울대학교병원
이상희 (전공의) 삼성서울병원
안경식 고대안암병원
최희석 부평세림병원
홍새롬 (전공의) 세브란스병원
오형우 광주21세기병원
김인환 전북대병원
김은지 바른세상병원
박희진 강북삼성병원
semi-correct answer 3
이경규 한강성심병원
신현주 (전공의) 세브란스병원
조신영 웰튼병원

  • 이경규 ( 2011-05-30 10:38:54 )
    영상소견은 ricket의 소견이고 주어진 검사실 소견을 보고 고민을 하다가
    Infantile hyperparathyroidism or ricket with secondary hyperparathyroidism으로
    응모를 하였습니다.

    검사실 소견상
    ricket 때는 혈청 calcium과 phosphorous는 감소하며 반면에 alkaline phosphatase와 parathyroid hormone 는 증가하고

    반면에 primary hyperparathyroidism 때 검사실 소견으로는 parathyroid hormone, serum calcium, alkaline phosphatase 수치는 증가하고 serum phosphate 수치는 감소하며 urine calcium과 phosphate 수치는 증가한다. 만성신부전에서는 serum calcium 수치는 정상이거나 낮으며 serum phosphate나 alkaline phosphatase 수치는 증가한다.

    그러므로 ricket과 primary hyperparathyroidism에서는 calcium level이 감별점이 됩니다 (ricket에서 ca 감소, primary hyperparathyroidism에서 ca 증가).

    주어진 검사실 소견만으로는 Infantile hyperparathyroidism or ricket with secondary hyperparathyroidism 모두 가능할것 같습니다.

    감별진단: Metaphyseal chondrodysplasia(Schmid type)와 hypophosphatasia.

    1) Metaphyseal chondrodysplasia(Schmid type)은 임상적으로 혈청 칼슘, 인 및 alkaline phosphatase등이 정상이며 방사선학적으로 성장판의 확장을 보이지만 구루병과 달리 골간단은 정상적인 무기질 침착(well mineralization)을 보인다. 또한 Looser's zone이나 이차성 부갑상선 기능항진증의 소견도 없다.

    2) hypophosphatasia에서는 구루병과 비슷한 방사선학적 소견을 보이지만 특징적으로 성장판에서 골간단으로 불규칙하고 현저한 radiolucent areas를 보이는데 이는 uncalcified bone matrix이다. hypophosphatasia에서는 serum alkaline phosphatase가 낮으며 이 검사실 소견이 alkaline phosphatase 증가를 보이는 ricket과 primary hyperparathyroidism과 주요한 감별점이다.

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