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Pyles metaphyseal dysplasia with megalocornea a very rare association--a case report.

INTRODUCTION: Pyle's disease is a rare familial metaphysical dysplastic disorder with few reports worldwide (1-4) associated with megalocornea is too rare. This article presents a case reports different treatment options and differential diagnosis for Erlenmeyer flask deformity.

CASE REPORT: A seven year old girl born to a third degree consanguineous couple presented to orthopedics OPD with history of trauma over the left knee during playing. On routine examination, we found she also suffers from right sided megalocornea. We done routine skiagram firstly in the traumatic knee, we found typical Erlenmeyer flask sign (fig 5) without any fracture. Then we went for a skeletal survey where we found same radiological feature in opposite tibia & femur. Lower end of both ulna widened, osteopenic, medial end of the both clavicles and sternal end of the ribs are widened, multiple growth arrest line, diffuse osteopenia but without any anterior bowing of tibia or Kypho-scoliosis.

There was no h/o fracture, joint pain, jaundice, blood transfusion or any kind of delayed milestone or mental retardation. Her face was round, no hypotelorism, caries teeth, and small chin. She had mild genu valgum deformity but no wasting or hypertrophy of calf muscles. There was no spinal deformity, pallor, hepatosplenomegaly. Examination of the parents was normal. Blood investigations were within normal limits. Her BMD shows osteopenia (Z sore -2). Biopsy taken from tibial metaphysio-diaphysial junction and sent for histopathological examination which shows grossly-the lesion was well circumscribed, red and granular. Microscopically it consisted of cellular masses of fibrous tissue with storiform pattern with scattered osteoclasts along with increased mitotic activity 8. Based on clinical features, radiological findings and histopathological examination we made the diagnosis of Pyle's metaphysical dysplasia with megalocornea which is a rare association.

DISCUSSION: Pyle's metaphysical dysplasia have a peculiar radiological findings due to defect in metaphysial remodeling which leads to grossly widened metaphysis of long bones with cortical thinning and osteopenia (Erlenmeyer Flask deformity) (5,6,7) especially in distal femur, proximal tibia, distal radius & ulna, proximal humerus, medial end of clavicle & sternal end of the ribs. In this case there was no spinal deformity (3,4,5) but jaw was involved with additional unilateral megalocornea which is usually bilateral (9). There are few additional clinical signs & symptoms like muscle weakness, joint pain, genu valgum but no Kypho- scoliosis, limited extension of elbow, corneal diameter-13 mm or more, deep anterior chamber, high myopia and astigmatism without lens subluxation (9).

DIFFERENTIAL DIAGNOSIS: Cranio-metaphysial & cranio diaphysial dysplasia, Gaucher's disease Osteopetrosis, Marfan's, Down syndrome, Thalassemia, Niemann-Pick's disease.

Absence of cranial nerve involvement excludes 1st four from d/d. Moreover our patient had not anemia, jaundice, hepatosplenomegaly and no H/O repeated blood transfusion, normal IQ excludes other d/d also.

REFERENCES;

(1.) Percin EF et al--Genet couns 2003; 14:387-393.

(2.) Raad MS et al.--Clin Genet-1978 14: 251-256.

(3.) HesselsonNG et al. Br journal of Radiology 2000; 30:431-440.

(4.) ThuraS et al--spinal involvement in Pyle's disease Paed Radiol 2000; 30:25-27.

(5.) M Kabra et al Ind Paed vol. 45 April-2008.

(6.) J of Med Genetics--1987:321-324.

(7.) Franky et al - Megalocornea with skeletal abnormality J. Hum Gen -1973 June; 21(2):6772.

(8.) Rosai Ackerman's Pathology.

(9.) Clinical Ophthalmology--Kanski Page 140.

Prasanta Kumar Mandal, Fagu Ram Majhi, Anup Mandal

[1.] Associate Professor, Department of Orthopaedics, Bankura Sammilani Medical College & Hospital, Bankura, West Bengal.

[2.] Assistant Professor, Department of Orthopaedics, Bankura Sammilani Medical College & Hospital, Bankura, West Bengal.

[3.] Assistant Professor, Department of Ophthalmology, Bankura Sammilani Medical College & Hospital, Bankura, West Bengal.

CORRESPONDING AUTHOR:

Dr. Prasanta Kumar Mandal

Lokepur (near NCC office)

Kenduadihi, Bankura.

E-mail: drprasantamondal@gmail.com
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Title Annotation:CASE REPORT
Author:Mandal, Prasanta Kumar; Majhi, Fagu Ram; Mandal, Anup
Publication:Journal of Evolution of Medical and Dental Sciences
Article Type:Clinical report
Date:Apr 29, 2013
Words:602
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