A Rare Case of Lethal Prenatal-Onset Infantile Cortical Hyperostosis

Infantile cortical hyperostosis, or Caffey's disease, usually presents with typical radiological features of soft tissue swelling and cortical thickening of the underlying bone. The disease can be fatal when it presents antenatally, especially before a gestational age of 35 weeks. This fatal, premature form of the disease is known to occur in various ethnic groups around the globe, and approximately 30 cases have been reported in English literature. This paper is unique in that it is the first paper to report a lethal form of prenatal-type infantile cortical hyperostosis diagnosed in South Korea. Born at gestational age of 27 weeks and 4 days, the patient had typical features of polyhydramnios, anasarca, hyperostosis of multiple bones, micrognathia, pulmonary hypoplasia, and hepatomegaly. The patient was hypotonic, and due to pulmonary hypoplasia and persistent pulmonary hypertension, had to be supported with high frequency ventilation throughout the entire hospital course. Due to the disease entity itself, as well as prolonged parenteral nutrition, liver failure progressed, and the patient expired on day 38 when uncontrolled septic shock was superimposed. The chromosome karyotype of the patient was normal, 46, XX, and COL1A1 gene mutation was not detected.

Enfermedad de Caffey en una familia y trastornos relacionados con el colágeno tipo 1 / Caffey disease in a family and disorders related to collagen type 1

Introducción: La enfermedad de Caffey también se ha denominado hiperostosis cortical infantil, caracterizada por la presencia de un episodio en la infancia con neoformación subperióstica en las diáfisis de huesos largos, el maxilar inferior y las clavículas. Casos clínicos: Se evaluó a un recién nacido con hallazgos clínico-radiológicos que comprendieron deformidad angular anterior del antebrazo izquierdo y miembros inferiores. La radiografía simple del nacimiento certificó la hiperostosis cortical con curvatura anterior del radio izquierdo, asociado con importante engrosamiento cortical en la diáfisis de tibias. La radiografía de control a los tres y ocho meses de edad mostró disminución de la hiperostosis cortical. El segundo caso es el de una niña de siete años que ha presentado dos exacerbaciones de hiperostosis cortical. En el examen físico presentó hiperextensibilidad de pabellones auriculares, hipermovilidad de articulaciones pequeñas y manchas de hemosiderina múltiples difusas localizadas en las piernas. El tercer caso correspondió a un lactante menor de un mes y tres días de vida, con radiografía que evidenció la hiperostosis cortical de tibias. Conclusión: La familia con neoformación diafisiaria constituye casos de interés por tratarse de un diagnóstico infrecuente en la edad pediátrica y cuya sospecha clínica puede generarse a partir de un buen examen clínico y estudio del caso índice, complementado con la interpretación de la genealogía asociado con el estudio molecular que lo corrobora.

Introduction: Also called infantile cortical hyperostosis, characterized by the presence of an episode in childhood with subperiosteal neoformation in the diaphysis of long bones, jaw and clavicles. Case description: a newborn was evaluated with clinical-radiological findings that included anterior angular deformity of the left forearm and lower limbs. The simple bone scan birth certified cortical hyperostosis with anterior curvature of the left radius, associated with important cortical thickening in the diaphysis of tibias. The control radiograph at three months of age showed a decrease in cortical hyperostosis. The second case is a seven-year-old patient who has presented two exacerbations of cortical hyperostosis. Upon physical examination, he presented hyperextensibility of auricular pavilions, hypermobility of small joints and diffuse multiple hemosiderin spots located on the legs. The third case corresponded to an infant younger than one month three days of life, with radiography that showed the cortical hyperostosis of tibias. Conclusion: We conclude that the family with diaphyseal neoformation constitute cases of interest because it is an infrequent diagnosis in the pediatric age and whose clinical suspicion can be generated from a good clinical examination and study of the index case, supplemented with the interpretation of the genealogy associated with the molecular study that corroborates it.

Reversible prostaglandin-induced cortical hyperostosis in an infant without 3040C→T mutation in COL1A1

Background: A hereditary form of infantile cortical hyperostosis (ICH), known as Caffey disease, was recently found to be caused by a heterozygous 3040C → T mutation in the COL1A1 gene. Objective: To determine whether a similar mutation was also responsible for a sporadic case of ICH. Methods: We identified a Thai male infant who was a sporadic case of ICH. He had symmetric cortical hyperostosis of all of his long bones, clavicles, and ribs occurring after a prolonged infusion of prostaglandin E1 (PGE1) for a cyanotic congenital heart disease. Mutation analysis of COL1A1 was performed in the patient and his parents by restriction enzyme digestion of PCR products. Results: The particular mutation was not found in our case and in his parents. A follow-up after 15 months demonstrated that the child had normal growth and development. Repeated imaging studies revealed markedly decreased cortical thickenings of the affected bones. Conclusion: Our findings confirm that PGE1-induced cortical hyperostosis is reversible and does not associate with the COL1A1 3040C→T mutation. Keywords: COL1A1, infantile cortical hyperostosis, prostaglandin, reversible.

Recurrence of Infantile Cortical Hyperostosis: A Case Report / 대한정형외과학회잡지

Infantile cortical hyperostosis (Caffey's disease) is considered to be a benign self- limiting disease of uncertain etiology that appears in early infancy. A 16 month old girl, who had an infantile cortical hyperostosis after her birth, was admitted because of irritability and a painful swelling of her leg and a cortical thickening in her left tibia. We diagnosed this as being a recurrence of infantile cortical hyperostosis according to clincal and radiologic findings. Recurrence of cortical thickening in patient with a history of Caffey's disease may be suspected in the infantile cortical hyperostosis disorder.

A Case of Sporadic Caffey's Disease(Infantil Cortical Hyperostosis) Without Mandibular Involvement

Caffey's disease(infantile cortical hyperostosis) is an uncommon benign and self limited disorder of unknown etiology, affecting the skeleton and its contiguous fasciae and muscles. Its occurrence in isolated cases or in multiple members in families suggests the existence of two different forms, namely a sporadic form and a familial form. The tibia is the predominant bone known to be affected in the familial form, while the mandible is mostly affected in the sporadic form. This benign and self-limited disorder has rarely late recurrence or persistence of symptoms with deformity. The patient in this case had immediate and complete resolution of her symptoms while receiving acetaminophen with no recurrent bone formation during treatment with antiinflammatory drugs. We describe sporadic, nonfamilial Caffey's disease, affecting both radii and tibiae, but not involving the mandibular in a 4-month-old female infant.

Infantile cortical hyperostosis (caffeys disease): report of a case

A 5 month old child is reported, who for 2 months presented non-hyperemic swellings over both angles of the mandible and cheeks, giving a moon-shaped face. Other manifestations were tender fusiform swellings of the right forearm and extreme irritabilityThe condition was undiagnosed for 2 months in spite of observations in 3 hospitals and consultations with several physiciansOne close observation, at the Childrens Memorial Hospital, this case presented the features, course and X-ray findings characteristic of Infantile Cortical HyperostosisThe patient improved on the 15th day in the latter hospital at which time his therapy were phenobarbital and vitaminsPersistence of the swelling prompted the use of steriod, and further improvement was apparent thereafter. This case alone cannot justify attributing favorable results to steroid therapy. (Summary)

A Case of Infantile Cortical Hyperostosis

Infantile cortical hyperostosis occurs in the first few months of life, and is characterized by irritability, fever, soft tissue swelling and radiological evidence of a periosteal reaction, particularly of the mandible. It's cause is unknown. The disease has been reported over 130 cases worldwidely, with only 2 cases in Korea sofar. Recently we experienced a case of infantile cortical hyperostosis. The patient was 2-month-old female who complained of fever, irritability, tender swellinb of left forearm and both lower legs. The diagnosis was established by radiological findings that showed marked periosteal new bone formation on the mandible, left radius and ulnar, and both tibiae. The brief review of literature was made.

Two Cases Reports of Infantile Cortical Hyperostosis / 대한정형외과학회잡지

The infantile cortical hyperostosis is relatively rare unknown cause disease. After the first report of a case of this was that of caffey in 1945, this disease is increasing in frequency. This disease characterized by subperiosteal new bone formation on various bone, leukocytosis, increased Erythrocyte Seidmentation Rate, fever. We experienced two cases of this and reported them in this paper with a brief review of tbe literature.