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Metaphyseal Dysplasia: A Rare Case Report

January 2016
Journal of Clinical Case Reports 06(02)

Authors:

National Trauma Center, Mahankal, Kathmandu Nepal

Metaphyseal dysplasia is a very rare inherited bone disorder. Here is a case report and possible treatment options for 11 years old child, detected by Karuna foundation Nepal.

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Volume 6 • Issue 2 1000726

J Clin Case Rep

ISSN: 2165-7920 JCCR, an open access journal

Open Access

Case Report

Khanal, J Clin Case Rep 2016, 6:2

http://dx.doi.org/10.4172/2165-7920.1000726

Journal of Clinical Case Reports

ISSN: 2165-7920

*Corresponding author: Dildip Khanal, Karuna Foundation Nepal “Saving Children

from Disability, One by One”, Nepal, Tel: +97714413340; E-mail: dildip17@gmail.com

Received December 15, 2015; Accepted February 03, 2016; Published February

07, 2016

Citation: Khanal D (2016) Metaphyseal Dysplasia: A Rare Case Report. J Clin

Case Rep 6: 726. doi:10.4172/2165-7920.1000726

terms of the Creative Commons Attribution License, which permits unrestricted

use, distribution, and reproduction in any medium, provided the original author and

source are credited.

Metaphyseal Dysplasia: A Rare Case Report

Dildip Khanal*

Karuna Foundation Nepal “Saving Children from Disability, One by One”, Nepal

Abstract

Metaphyseal dysplasia is a very rare inherited bone disorder. Here is a case report and possible treatment

options for 11 years old child, detected by Karuna foundation Nepal.

Keywords: Metaphyseal dysplasia; Pyle; erapeutic rehabilitation;

Karuna foundation Nepal

Background

Metaphyseal dysplasia also known as Pyle disease is a heterogeneous

group of disorders, characterized by the metaphyseal changes of the

tubular bones with normal epiphyses. e disease was described briey

by Pyle in 1931 [1,2]. Incidence occurs at a rate of two to three new borns

per 10,000 births involving the proliferative and hypertrophic zone of

the physis (epiphysis is normal). Jansen, Schmid and McKusick are the

three sub-types with a few reports worldwide [3-9].

Karuna foundation Nepal (KFN) is a non-governmental

organization which believes in a world in which each individual, with

or without disabilities, has equal access to good quality health care,

can lead a dignied life, and can participate as much as possible in

community life. KFN approach is entrepreneurial and action oriented,

working towards setting up and strengthening existing local health

care system, stimulating community participation and responsibility-

including health promotion, prevention and rehabilitation through

empowerment of communities. Below is a description of a child with

such a rare case who was identied during one of KFN project [10].

Case Report

Father of 11 years old male child, with the complain of bending of

bilateral legs and pain in bilateral knee aer walking for short period

of time for three years approach to KFN. As a support for medical

intervention he was taken to tertiary hospital by KFN. According to his

father, problem was started at the age of three and half years when he

noticed both his legs are bending and was having diculty in walking.

Child milestones were normal and he was studying at fourth standard.

Family History-ere was no history of consanguinity. Together

they had four children, of whom the patient was the second. All other

children were normal.

Physical examination-e child weight was 20 kilogram (36.9 kg

normal) with the height of 106 centimeters (144 cm normal). His was

having bilateral at foot and genu varum on bilateral knees (Figures

1 and 2). Bilateral upper and lower extremities are short and he was

having waddling gait. Motor, sensory and reexes examinations were

normal with no limb length discrepancy.

Radio-graphic examination-X-ray of elbow and wrist joint revealed

fraying, splaying and cupping of distal radial and ulnar metaphysis.

X-ray of pelvis and knee joint concealed splaying, fraying and cupping

of metaphysis of bilateral femur and knee joint respectively. Chest x-ray

of dorso-lumbar spine is grossly normal (Figures 3 and 4).

Following investigations were normal: Blood Counts, Haemoglobin,

Erythrocyte Sedimentation Rate, Serum Alkaline Phosphates, Blood

calcium, Urea and SGPT

Based on clinical features and radio-logical ndings, the child was

diagnosed as Metaphyseal dysplasia with Schmid type.

Discussion

Metaphyseal dysplasia, schmid type (MDS), is a very rare inherited

disorder characterized by short-limbed dwarsm and genu varum.

Figure 1: Bilateral genu varum deformity.

Figure 2: Flat foot.

Figure 3: X-ray of Wrist and Elbow shows fraying, splaying and cupping of

distal radial and ulnar metaphysis.

Citation: Khanal D (2016) Metaphyseal Dysplasia: A Rare Case Report. J Clin Case Rep 6: 726. doi:10.4172/2165-7920.1000726

Page 2 of 2

Volume 6 • Issue 2 • 1000726

J Clin Case Rep

ISSN: 2165-7920 JCCR, an open access journal

Physical therapy and/or orthopedic surgery may help correct

certain deformity of the hip and knee. In this case, medial shoe arch

support was made for at foot. For pain management hot moist pack

was given and the strengthening exercises for the lower extremities

were taught.

Special services that may be benecial include speech therapy,

special social support, physical therapy, and other medical, social

and vocational services. Growth hormone therapy is not found to be

eective to increase adult height. Genetic counseling will be of benet

for aected individuals and their families [11-13].

References

1. Pyle E (1931) A Case of Unusual Bone Development. Journal of Bone and Joint

Surgery 1: 874.

2. David JEA, Palmer PES, Bulawayo, Rhodesia S (1958) Familial Metaphysial

Dysplasia. The Journal of Bone and Joint Surgery 40: 1.

3. Percin EF, Percin S, Koptagel E, Demirel H (2003) A case with Pyle type

metaphyseal dysplasia: clinical, radiological and histological evaluation. Genet

Couns 14: 387-393.

4. Raad MS, Beighton P (1978) Autosomal recessive inheritance of metaphyseal

dysplasia (Pyle disease). Clin Genet 14: 251-256.

5. Heselson NG, Raad MS, Hamersma H, Cremin BJ, Beighton P (1979) The

radiological manifestations of metaphyseal dysplasia (Pyle disease). Br J

Radiol 52: 431-440.

6. Turra S, Gigante C, Pavanini G, Bardi C (2000) Spinal involvement in Pyle’s

disease. Pediatr Radiol 30: 25-27.

7. Narayananan VS, Ashok L, Mamatha GP, Rajeshwari A, Prasad SS (2006)

Pyle’s disease: an incidental nding in a routine dental patient. Dentomaxillofac

Radiol 35: 50-54.

8. Lindberg EJ, Watts HG (1997) Postosteotomy healing in Pyle’s disease (familial

metaphyseal dysplasia). A case report. Clin Orthop Relat Res : 215-217.

9. Ferrari D, Magnani M, Donzelli O (2005) Pyle’s disease. A description of two

clinical cases and a review of the literature. Chir Organi Mov 90: 303-307.

10. http://www.karunafoundation.nl/overons/in_nepal_uk.html

11. https://rarediseases.org/rare-diseases/metaphyseal-chondrodysplasia-

schmid-type/

12. Beighton P (1987) Pyle disease (metaphyseal dysplasia). J Med Genet 24:

321-324.

13. Gupta N, Kabra M, Das CJ, Gupta AK (2008) Pyle metaphyseal dysplasia.

Indian Pediatr 45: 323-325.

Other characteristics include outward “aring” of the bones of the

lower rib cage, lumbar lordosis, pain in the legs and hip deformities

i.e. coxa vara resulting in an unusual waddling gait. It is caused by a

mutation of the gene type X collagen called COL10A1. is gene has

been mapped to chromosome 6q21-22.3. It aects males and females

in equal numbers.

e diagnosis of MDS is alleged during early childhood and

may be conrmed by a thorough clinical evaluation, identication

of characteristic physical ndings, and a variety of specialized tests,

particularly advanced imaging techniques. ese techniques include

x-ray studies that may reveal abnormal development of the large

bulbous metaphyseal ends of certain bones of the body, particularly

those of the arms and legs, abnormal enlargement of the growing end

of the upper portion of the thigh bone i.e. capital femoral epiphysis.

Molecular genetic testing for the COL10A1 gene is available to

validate the diagnosis. e test involves sequence of DNA from the

COL10A1 gene which detects any disease causing mutations. Prenatal

diagnosis can also be made if the specic COL10A1 mutation has been

identied in the family. MDS is oen mistaken for vitamin D deciency

rickets so it is important that proper diagnosis should be made to avoid

redundant vitamin D therapy.

e treatment is symptomatic therefore requiring the coordinated

eorts of a team of specialists. Pediatricians, orthopedic surgeons,

physical therapists, and other health care professionals may need to

analytically and comprehensively plan for the treatment.

Figure 4: X-ray of Pelvis shows splaying, fraying and cupping of metaphysis of

bilateral femur and Dorso-lumbar Spine is grossly normal.

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Citation: Khanal D (2016) Metaphyseal Dysplasia: A Rare Case Report. J Clin

Case Rep 6: 726. doi:10.4172/2165-7920.1000726

Interventions for improving clinical outcomes and health-related quality-of-life for people living with skeletal dysplasias: an evidence gap map

Article

Full-text available

Jun 2023
QUAL LIFE RES

Purpose Skeletal dysplasias are rare genetic disorders that are characterized by abnormal development of bone and cartilage. There are multiple medical and non-medical treatments for specific symptoms of skeletal dysplasias e.g. pain, as well as corrective surgical procedures to improve physical functioning. The aim of this paper was to develop an evidence-gap map of treatment options for skeletal dysplasias, and their impact on patient outcomes. Methods We conducted an evidence-gap map to identify the available evidence on the impact of treatment options on people with skeletal dysplasias on clinical outcomes (such as increase in height), and dimensions of health-related quality of life. A structured search strategy was applied to five databases. Two reviewers independently assessed articles for inclusion in two stages: titles and abstracts (stage 1), and full text of studies retained at stage 2. Results 58 studies fulfilled our inclusion criteria. The included studies covered 12 types of skeletal dysplasia that are non-lethal with severe limb deformities that could result in significant pain and numerous orthopaedic interventions. Most studies reported on the effect of surgical interventions (n = 40, 69%), followed by the effect of treatments on dimensions of health quality-of-life (n = 4, 6.8%) and psychosocial functioning (n = 8, 13.8%). Conclusion Most studies reported on clinical outcomes from surgery for people living with Achondroplasia. Consequently, there are gaps in the literature on the full range of treatment options (including no active treatment), outcomes and the lived experience of people living with other skeletal dysplasias. More research is warranted to examine the impact of treatments on health-related quality-of-life of people living with skeletal dysplasias, including their relatives to enable them to make preference- and valued based decisions about treatment.

Autosomal recessive inheritance of metaphyseal dysplasia (Pyle disease)

Article

Apr 2008
CLIN GENET

Two young adults with Pyle disease have been investigated in a large Afrikaner kindred in South Africa. Consanguinity was present in the family, and it is likely that the condition was inherited as an autosomal recessive. This contention is supported by the radiographic demonstration of minor degrees of widening of the distal femora in obligatory and potentially heterozygous relatives. Apart from genu valgus of moderate degree, the patients enjoyed good health and their gross radiographic skeletal abnormalities contrasted with the innocuous clinical presentation. Differentiation of Pyle disease from the autosomal dominant and autosomal recessive forms of cranio-metaphyseal dysplasia is of prognostic importance in view of the potentially serious complications in these latter disorders.

A Case of Unusual Bone Development

Article

Jan 1931

Edwin PYLE

The radiological manifestations of metaphyseal dysplasia (Pyle disease)

Article

Jul 1979

Pyle disease is a rare genetic skeletal disorder which is conventionally classified with craniotubular dysplasias. The radiographic manifestations in three affected adults included widening of the metaphyseal portions of the long bones which extended through a major portion of the diaphyses, with cortical thinning and mild cranial sclerosis. The femora presented the characteristic Erlenmeyer flask configuration. Pyle disease is clinically, radiographically and genetically distinct from craniometaphyseal dysplasia, a relatively common condition with which it has been confused.

[Pyle's disease (metaphyseal dysplasia)]

Article

Feb 1977

Autosomal recessive inheritance of metaphyseal dysplasia (Pyle disease)

Article

Dec 1978

Pyle disease (metaphyseal dysplasia)

Article

Jul 1987

Peter Beighton

Postosteotomy Healing in Pyle??s Disease (Familial Metaphyseal Dysplasia); A Case Report

Article

Sep 1997

Pyle's disease is rare skeletal dysplasia in which a defect in metaphyseal remodeling leads to grossly widened metaphyses of long bones. Genu valgum, one of the few clinical findings in this disease, may warrant surgical intervention. Postoperative healing is documented only in Pyle's original patient. A case is presented in which bilateral osteotomies were performed through the proximal tibia for progressive genu valgum. The osteotomies healed within 12 weeks when treatment was performed with standard techniques. This information will allow osteotomies to be performed with confidence.

Spinal involvement in Pyle's disease

Article

Feb 2000

Pyle's disease is a rare skeletal dysplasia involving the metaphyses of long bones. To date, spinal involvement has been only rarely described in the literature. To show that spinal changes, which are an expression of the same growth defect of the long bones, are an important and constant sign of the disease in the families studied. The radiographic skeletal changes in five patients have been observed. The pathognomonic metaphyseal widening of tubular bones (known as the 'Erlenmeyer flask sign') was associated with the spinal changes in all cases. Radiographic findings in the spine varied from moderate platyspondyly to the bodies having the appearance of a biconcave lens. This may be attributed to two main causes: (1) a defect in the modelling process of the vertebrae (comparable to that observed in the metaphyses) and (2) chronic pathological fractures secondary to osteoporosis (a typical feature of Pyle's disease). The finding of platyspondyly of varying severity widens the spectrum of radiographic findings in this disease and can assist in diagnosis.

Familial metaphysial dysplasia

Article

Mar 1958

1. Familial metaphysial dysplasia occurring in two families is recorded. 2. One case with unusual skull changes and webbing of the digits is described in detail. 3. The similarity between the shape of the bones in familial metaphysial dysplasia and other bone disease is discussed.

A case with Pyle type Metaphyseal Dysplasia: Clinical, radiological and histological evaluation

Article

Feb 2003
GENET COUNSEL

Pyle type metaphyseal dysplasia is a rare autosomal recessive disease that is primarily affect metaphyses. Here we present a case with Pyle type metaphyseal dysplasia. The characteristic features of the case were metapyhseal broadening with undertubulation and Erlenmeyer flask sign at distal femoral and proximal tibial metaphyses. There were also platyspondyly with biconcave lens appearance of the vertebral bodies, congenital hip dislocation and normal cranium. Bone histopathology showed decreased number of osteoclasts. To the best of our knowledge, this is the first reported case of Pyle type metaphyseal dysplasia from Turkey.