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Case ReportCASE REPORTS AND CLINICAL OBSERVATIONS
Open Access

Intermediate Autosomal Recessive Osteopetrosis With an Unusual Absence of Fractures

Ali Ishaque, Eisha Farid, Sharmeen Nasir, Laila Tul Qadar and Ammarah Jamal
Ochsner Journal December 2022, 22 (4) 366-371; DOI: https://doi.org/10.31486/toj.22.0018
Ali Ishaque
1Department of Internal Medicine, Dow University of Health Sciences, Karachi, Pakistan
MBBS
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Eisha Farid
1Department of Internal Medicine, Dow University of Health Sciences, Karachi, Pakistan
MBBS
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Sharmeen Nasir
2Department of Pediatrics, Civil Hospital Karachi, Dow University of Health Sciences, Karachi, Pakistan
MBBS, FCPS
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  • For correspondence: doc.sharmeen{at}gmail.com
Laila Tul Qadar
1Department of Internal Medicine, Dow University of Health Sciences, Karachi, Pakistan
MBBS
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Ammarah Jamal
2Department of Pediatrics, Civil Hospital Karachi, Dow University of Health Sciences, Karachi, Pakistan
MBBS, FCPS
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  • Article
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Article Figures & Data

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  • Figure 1.
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    Figure 1.

    The patient presented with a draining sinus tract on the cheek below the lateral half of the right eye.

  • Figure 2.
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    Figure 2.

    Chest x-ray shows a generalized increase in bone density in the clavicles, scapulae, and ribs (arrows).

  • Figure 3.
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    Figure 3.

    Skull radiographs show (A) periorbital sclerosis (arrows) and (B) thickening of the calvarium and the visualized cervical vertebrae (arrows).

  • Figure 4.
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    Figure 4.

    Radiographs of the hands show alternating bands of radiodense and radiolucent lines at the distal metaphyses of the radii and ulnae (arrows).

  • Figure 5.
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    Figure 5.

    Erlenmeyer flask deformities are seen at the distal ends of (A) the radii (arrows) and (B) the femora (arrows).

  • Figure 6.
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    Figure 6.

    (A) Anteroposterior view of the spine shows a bone-within-a-bone appearance in the iliac blades (lower arrows) and a sandwich vertebrae appearance (upper arrow). (B) Lateral view of the spine shows a sandwich vertebrae appearance (arrow).

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    Table.

    Laboratory Findings

    VariableResultReference Range
    Hematologic profile
     Hemoglobin, g/dL4.711.5-13.5
     Mean corpuscular volume, fL90.580-95
     Hematocrit, %15.230-44
     Mean corpuscular hemoglobin, pg28.027-31
     Mean corpuscular hemoglobin concentration, g/dL30.933.4-35.5
     Total leukocyte count, × 10³/μL8.14.0-11.0
     Platelet count, × 10³/μL17250-450
     C-reactive protein, mg/L22<10
     Prothrombin time, s9.311-13.5
     Activated partial thromboplastin time, s33.330-40
    Biochemical profile
     Creatinine, mg/dL0.20.5-1.0
     Sodium, mEq/L131135-145
     Potassium, mEq/L3.53.5-5.0
     Chloride, mEq/L9996-106
     Magnesium, mEq/L1.81.7-2.2
     Calcium, mg/dL8.38.5-10.2
     Phosphorus, mg/dL4.24.0-7.0
     Vitamin D, ng/mL28.3>30
     Parathyroid hormone, pg/mL23.97-53
     Total protein, g/dL8.16.0-8.3
     Albumin, g/dL3.33.4-5.4
     Globulin, g/dL4.82.0-3.5
     Albumin/globulin ratio0.691.1-2.5
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Ochsner Journal: 22 (4)
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Vol. 22, Issue 4
Dec 2022
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Intermediate Autosomal Recessive Osteopetrosis With an Unusual Absence of Fractures
Ali Ishaque, Eisha Farid, Sharmeen Nasir, Laila Tul Qadar, Ammarah Jamal
Ochsner Journal Dec 2022, 22 (4) 366-371; DOI: 10.31486/toj.22.0018

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Intermediate Autosomal Recessive Osteopetrosis With an Unusual Absence of Fractures
Ali Ishaque, Eisha Farid, Sharmeen Nasir, Laila Tul Qadar, Ammarah Jamal
Ochsner Journal Dec 2022, 22 (4) 366-371; DOI: 10.31486/toj.22.0018
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Keywords

  • Genetic diseases–inborn
  • osteomyelitis
  • osteopetrosis

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