*Fetal-maternal medicine unit, Department of Obstetric and Gynecology, Rajavithi hospital, Bangkok,Thailand.

** Inner Vision Women's Ultrasound, Nashville, Tennessee, USA.

Introduction

Infantile cortical hyperostosis is a rare disease which belongs among the Neonatal osteosclerotic dysplasias. It mostly presents within the first five months of age. The clinical presentation includes fever, irritability, pain, tenderness, soft tissue swelling. Acute symptoms last few months. The bone changes usually resolve completely. The bone changes include new periosteal bone formation and subsequent cortical thickening. The bones most commonly involved are: mandible, clavicles, ribs and long bones. Bone changes are usually limited to the bone diaphyses. Histopathology of the affected bone shows fibrinoid degeneration and hyperplastic collagen fibres. The management of this condition includes pain relief, corticosteroids or high doses of immunoglobulin.

Prenatal onset of this condition is much more severe and usually lethal. Prenatal cortical hyperosthosis was first described by Stevenson in 1993. The affected fetuses have severe cortical thickening of the ribs and long bones. The long bones are shortened and angulated with no evidence of bone fractures. Diaphysis are irregular and their echogenity is significantly increased. The bone changes are usually accompanied by a lung hypoplasia, hepatomegaly and dysmorphic features.

Ultrasound findings

• Shortened long bones
• Irregular diaphysis
• Incresed bone echogenicity
• Short irregular ribs, small thorax
• Hepatomegaly
• Fetal hydrops may be present

Caffey disease should be considered as a possible diagnosis in case we see short bones with irregular diaphysis with increased echogenicity and no signs of bone fractures.

Inheritance: both autosomal recessive and dominant inheritance have been documented.

Differential Diagnosis

• Mucolipidosis type II
• GM gangliosidosis type I
• Raine syndrome
• Osteogenesis imperfecta
• Campomelic dysplasia
• Hypophosphatasia

A 29-year-old G1P0 was referred for an ultrasound examination at 28 weeks of gestation. Her previous ultrasound performed at 19 weeks was unremarkable. The ultrasound examination showed findings suggestive of skeletal dysplasia. There was an enlarged amount of the amniotic fluid and micromelia. Long bones were curved and thickenned with increased echogenicity. There were no healing fractures detected. Thorax was small with short ribs. Liver was enlarged. Patient delivered prematurelly at 30 weeks due to a preterm rupture of membranes. Neonate died first day after delivery.

The pathologist diagnosed a prenatal cortical hyperosthosis which is a prenatal onset of infantile cortical hyperosthosis known as a Caffey disease.

Images 1,2: Image 1 shows enlarged amount of the amniotic fluid. Image 2 shows a small thorax and enlarged liver.

Images 3,4: Image 3 shows short, irregular, echogenic ribs. Image 4 shows the upper extremity with shortened and angulated long bones, humerus and radius.

Images 5,6: Image 5 shows long bones of the upper extremity, note the thickening od the diaphyses and irregular surface - hyperostosis. Image 6 shows the hand.

Image 7,8: 3-D images, image 7 shows the lower right extremity, note the bending od the calf. Image 8 shows the fetal face.

Video 1,2: Video 1 shows the thorax, note the ribs, increased echogenity, irregular surface. Video 2 shows a upper extremity with angulated, shortened long bones, their echogenity is increased and the diaphyses are thhickened with irregular surface.

Video 3: Video shows small thorax, enlarged liver, and micromelic, angulated bones.

Image 9: X-ray of the neonate. Note the thickness and irregular surface of the femur and tibia.

References

1. Hall C. Caffey Disease. Orphan.net.2005.
2. OMIM, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114000