Monostotic Scapular Caffey Disease: A Case Report With MRI Correlate.

Caffey disease, also referred to as infantile cortical hyperostosis, is a self-limiting inflammatory disease of bone, typically diagnosed in infancy (ages less than five months). This disease is characterized by asymmetric, often polyostotic bony hyperostosis and expansion, with a predilection for the mandible (70-90%). We present a unique case of a two-month-old boy with monostotic scapular hyperostosis. The disease is primarily diagnosed on plain film and further evaluated with bone scintigraphy or skeletal survey to identify the extent of osseous involvement. Accompanying MR imaging is not usually obtained due to lack of specificity and diagnostic utility, and when pursued, can potentially confound the diagnosis. MR findings of this case are presented to re-iterate the benignity of this disease process and obviate the need for further invasive procedures.

The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease.

We report on a female neonate with a clinico-radiological presentation in keeping with a lethal form of prenatal Caffey disease (PCH). She had antenatal and postnatal features of severely bowed long bones, small chest, diaphyseal hyperostosis and polyhydramnios and died shortly after birth. Initial testing excluded COL1A1-related PCH, as an OI gene panel, consisting of COL1A1, COL1A2, CRTAP, and P3H1 genes, was negative. Targeted sequencing using a gene panel was performed and a de novo heterozygous, likely pathogenic variant in IFITM5: c.119C > T(p.Ser40Leu) was identified, which was previously described to cause a severe form of progressively deforming osteogenesis imperfect (OI). To our knowledge, variants in IFITM5 have not been reported in infantile Caffey disease (ICH) or PCH. Given that the pathogenesis of PCH is largely unknown, we postulate that a subset of PCH may be associated with variants in IFITM5.

Enfermedad de Caffey: reporte de un caso clínico / Caffey's disease: report of a clinical case / Doença de Caffey: relato de um caso clínico

Introducción: La enfermedad de Caffey es una patología ósea inflamatoria, rara, autolimitada, casi exclusiva de lactantes. Objetivos: Jerarquizar el abordaje diagnóstico de una patología poco frecuente. Caso clínico: 4 meses 22 días, varón, consulta por irritabilidad y edema de miembro inferior izquierdo de 4 días de evolución. Sin traumatismos ni fiebre. Examen físico: edema indurado en tercio medio e inferior de pierna izquierda, no rubor ni calor local. Dolor a la palpación de cara anterior y lateral de tibia y peroné. Limitación funcional, no resaltos óseos. Radiografía: engrosamiento del periostio en tibia y peroné a nivel diafisario. Hemograma: Glóbulos blancos 15.380 KU/L, Hemoglobina 10,8 g/dL, Plaquetas 816.400 10/ul, proteína C reactiva 13,90 mg/dl. Con planteo de probable infección osteoarticular se inicia clindamicina ( gentamicina e ingresa a cuidados moderados. Dada la persistencia de edema e irritabilidad, al quinto día se solicita resonancia magnética: hallazgos sugerentes de un probable proceso inflamatorio- infeccioso de partes blandas con compromiso óseo. Completa 14 días de clindamicina y 7 días de gentamicina intravenosa, hemocultivo negativo. Persiste con edema, irritabilidad y dolor. A los 21 días, se revalora la presentación clínica-imagenológica, se plantea enfermedad de Caffey. Se inicia anti-inflamatorio con buena evolución. Conclusiones: La enfermedad de Caffey es una colagenopatía rara, que afecta lactantes. El diagnóstico es clínico - radiológico (irritabilidad, tumefacción de partes blandas y alteraciones radiológicas). El pronóstico a largo plazo suele ser favorable. Es importante considerar el diagnóstico en lactantes que se presentan con esta sintomatología para evitar retrasos diagnósticos e instauración de tratamientos innecesarios.

Introduction: Caffey's disease is a rare disease that is reported almost exclusively in infants. Objective: Describe the case of a rare pathology, prioritizing the diagnostic approach. Clinical case: 4 month -old, healthy male. Consultation due to irritability and edema of the left lower limb for 4 days. No trauma or fever. Physical examination: indurated edema in the left leg, no redness or local heat. Pain on palpation of the anterior and lateral aspect of the tibia and fibula. Functional limitation, no bony protusions. Leg x-ray: thickening of the periosteum in the tibia and fibula at the diaphyseal level. Hemogram: White Blood Cells 15,380 KU/L Hemoglobin: 10.8 g/dL. Platelets: 816,400 10/ul, C-reactive protein: 13.90 mg/dl. He was admitted with a suggestion of probable osteoarticular infection. Clindamycin ( gentamicin is started. Given the persistence of edema and irritability despite treatment, on the fifth day an MRI was requested: findings suggestive of a probable inflammatory-infectious process of soft tissues with bone involvement. Completed 14 days of clindamycin and 7 days of intravenous gentamicin, blood culture negative. It persists with edema, irritability and pain. After 21 days, the clinical-imaging presentation was reassessed and Caffey's disease was considered. Anti-inflammatory begins with good evolution. Conclusions: Caffey's disease is a rare collagenopathy, that affects infants. The diagnosis is clinical - radiological (irritability, soft tissue swelling and radiological alterations). The long-term prognosis is usually favorable. It is important to consider the diagnosis in infants who present with these symptoms to avoid diagnostic delays and initiation of unnecessary treatments.

Introdução: A doença de Caffey é uma patologia óssea inflamatória rara, autolimitada, quase exclusiva de lactentes. Objetivos: Priorizar a abordagem diagnóstica de uma patologia rara. Caso clínico: 4 meses 22 dias, sexo masculino, consulta por irritabilidade e edema do membro inferior esquerdo de 4 dias de evolução. Sem trauma ou febre. Exame físico: edema endurecido em terço médio e inferior da perna esquerda, sem vermelhidão ou calor local. Dor à palpação das faces anterior e lateral da tíbia e fíbula. Limitação funcional, sem saliências ósseas. Radiografia: espessamento do periósteo na tíbia e fíbula ao nível diafisário. Hemograma: Glóbulos brancos 15.380 KU/L, Hemoglobina 10,8 g/dL, Plaquetas 816.400 10/ul, Proteína C reativa 13,90 mg/dl. Com sugestão de provável infecção osteoarticular, foi iniciada clindamicina + gentamicina e internado em cuidados moderados. Dada a persistência do edema e da irritabilidade, no quinto dia foi solicitada ressonância magnética: achados sugestivos de provável processo inflamatório-infeccioso de partes moles com envolvimento ósseo. Completou 14 dias de clindamicina e 7 dias de gentamicina intravenosa, hemocultura negativa. Persiste com edema, irritabilidade e dor. Após 21 dias, o quadro clínico-imagem foi reavaliado e considerada doença de Caffey. O antiinflamatório começa com uma boa evolução. Conclusões: A doença de Caffey é uma colagenopatia rara que afeta lactentes. O diagnóstico é clínico-radiológico (irritabilidade, edema de partes moles e alterações radiológicas). O prognóstico a longo prazo é geralmente favorável. É importante considerar o diagnóstico em lactentes que apresentam esses sintomas para evitar atrasos no diagnóstico e início de tratamentos desnecessários.

Congenital cortical hyperostosis: a rare cause of inconsolable crying in a baby. Clinical case report. / Hiperostosis cortical congénita: una causa infrecuente de llanto inconsolable del lactante. Presentación de caso clínico.

Here we describe the case of a 2-month-old infant who consulted several times due to excessive crying, initially interpreted as having a gastrointestinal cause. Since the symptom persisted, a fracture was suspected due to its association with mobilization of the limbs and palpation of a mass on the anterior aspect of the right tibia. X-rays showed diaphyseal polyostotic involvement and lesions compatible with cortical involvement of long bones. Caffey-De Toni-Silverman syndrome was diagnosed and treatment with nonsteroidal anti-inflammatory drugs was initiated, resulting in symptom remission. Subsequently, the diagnosis was confirmed by the identification of the pathogenic heterozygous variant COL1A1. This is a rare condition with an estimated incidence of 48/100 000 individuals, and less than 150 cases have been described to date.

Se presenta el caso de un lactante de 2 meses que fue llevado a consulta varias veces por llanto problemático, inicialmente interpretado como de causa gastrointestinal. Dado que el síntoma persistía, se sospechó de una fractura debido a su asociación con la movilización de los miembros y la palpación de una tumoración en la cara anterior de la tibia derecha. Las radiografías mostraron compromiso poliostótico diafisario y lesiones compatibles con compromiso cortical de huesos largos. Se realizó el diagnóstico operativo de síndrome de Caffey-De Toni-Silverman y se inició el tratamiento con antiinflamatorios no esteroideos, lo que resultó en una remisión sintomática. Posteriormente, se confirmó el diagnóstico mediante la identificación de la variante patogénica COL1A1 en estado heterocigota. Se trata de una patología rara de la cual se estima una incidencia de 48/100 000 y hay menos de 150 casos descritos al momento.

A Rare Case of Infantile Cortical Hyperostosis (ICH) of the Bilateral Tibia or Caffey Disease.

An inflammatory collagenopathy of infancy characterized by subperiosteal bone hyperplasia is known as infantile cortical hyperostosis (ICH) or Caffey disease. A 10-day male infant presented to the hospital with leg swelling, excessive crying, and irritability since birth. He was born with the swallowed part of his tibia bone. The X-ray suggested hyperostosis of the bilateral tibia bone involving the anterior cortex, which is more prominent on the right side. The infant was clinically monitored and treated and discharged after the swelling was reduced. Again, he was admitted to the hospital at 10 weeks of life, and a similar thickening appeared on his left tibia. He was administered analgesics and non-steroidal anti-inflammatory drugs (NSAIDs) and discharged under a follow-up schedule. The infant was monitored in the pediatric ward for the next seven days. The swelling and pain completely subsided one and a half weeks after hospitalization, and continued follow-up was suggested until the complete correction of the disease on an outpatient basis. This disease must be recognized and understood, and the clinical-radiological correlation is significant.

Wnt/ß-catenin Signaling Controls Maxillofacial Hyperostosis.

The roles of Wnt/ß-catenin signaling in regulating the morphology and microstructure of craniomaxillofacial (CMF) bones was explored using mice carrying a constitutively active form of ß-catenin in activating Dmp1-expressing cells (e.g., daßcatOt mice). By postnatal day 24, daßcatOt mice exhibited midfacial truncations coupled with maxillary and mandibular hyperostosis that progressively worsened with age. Mechanistic insights into the basis for the hyperostotic facial phenotype were gained through molecular and cellular analyses, which revealed that constitutively activated ß-catenin in Dmp1-expressing cells resulted in an increase in osteoblast number and an increased rate of mineral apposition. An increase in osteoblasts was accompanied by an increase in osteocytes, but they failed to mature. The resulting CMF bone matrix also had an abundance of osteoid, and in locations where compact lamellar bone typically forms, it was replaced by porous, woven bone. The hyperostotic facial phenotype was progressive. These findings identify for the first time a ligand-independent positive feedback loop whereby unrestrained Wnt/ß-catenin signaling results in a CMF phenotype of progressive hyperostosis combined with architecturally abnormal, poorly mineralized matrix that is reminiscent of craniotubular disorders in humans.

Whole Genome Sequencing Indicates Heterogeneity of Hyperostotic Disorders in Dogs.

Craniomandibular osteopathy (CMO) and calvarial hyperostotic syndrome (CHS) are proliferative, non-neoplastic disorders affecting the skull bones in young dogs. Different forms of these hyperostotic disorders have been described in many dog breeds. However, an incompletely dominant causative variant for CMO affecting splicing of SLC37A2 has been reported so far only in three Terrier breeds. The purpose of this study was to identify further possible causative genetic variants associated with CHS in an American Staffordshire Terrier, as well as CMO in seven affected dogs of different breeds. We investigated their whole-genome sequences (WGS) and filtered variants using 584 unrelated genomes, which revealed no variants shared across all affected dogs. However, filtering for private variants of each case separately yielded plausible dominantly inherited candidate variants in three of the eight cases. In an Australian Terrier, a heterozygous missense variant in the COL1A1 gene (c.1786G>A; p.(Val596Ile)) was discovered. A pathogenic missense variant in COL1A1 was previously reported in humans with infantile cortical hyperostosis, or Caffey disease, resembling canine CMO. Furthermore, in a Basset Hound, a heterozygous most likely pathogenic splice site variant was found in SLC37A2 (c.1446+1G>A), predicted to lead to exon skipping as shown before in SLC37A2-associated canine CMO of Terriers. Lastly, in a Weimaraner, a heterozygous frameshift variant in SLC35D1 (c.1021_1024delTCAG; p.(Ser341ArgfsTer22)) might cause CMO due to the critical role of SLC35D1 in chondrogenesis and skeletal development. Our study indicates allelic and locus heterogeneity for canine CMO and illustrates the current possibilities and limitations of WGS-based precision medicine in dogs.

Radiographic overlap of recurrent Caffey disease and chronic recurrent multifocal osteomyelitis (CRMO) with considerations of molecular origins.

Caffey disease, or infantile cortical hyperostosis, classically describes a self-limited inflammatory disorder that presents in the infant with fussiness, focal swelling and sometimes fever. Imaging is conventionally limited to radiography, which shows mild to profound subperiosteal bone formation and sometimes deformity. This disease was not uncommonly diagnosed in the late 20th century. Interestingly, the disease may not just occur in the infant, and it may be due to a genetic mutation in the alpha-one chain of type 1 collagen (COL1A1). Recurrent or delayed onset in the older child or adolescent also occurs. In more recent years, another type of inflammatory bone disorder, chronic sterile osteomyelitis, has been frequently recognized and, depending on the radiographic stage or the diagnostic modality used, may have characteristics overlapping with Caffey disease. In this review, we discuss the demographics, imaging and known etiologies for Caffey disease and chronic recurrent multifocal osteomyelitis and raise the possibility of similar molecular origins.

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.

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.

Caffey's Disease Sans Mandibular and Clavicular Involvement: A Rare Case Report.

Caffey's disease, also known as Infantile Cortical Hyperostosis, is a rare, self-limited, benign, inflammatory gene-related disorder of infants that causes bone changes, soft tissue swelling, and irritability. The mandible (75%), clavicles, and ulnae are the bones most frequently involved, others being long bones, lateral ribs, ilia with skull being the rarest. However, we report a case of a 5-month-old male diagnosed with Infantile cortical hyperostosis but with absent mandibular and clavicular involvement, thus depicting the unusual presentation of this disease.

Hiperostosis cortical infantil: reporte de caso / Infantile cortical hyperostosis: Case report

La hiperostosis cortical infantil, o enfermedad de Caffey-Silverman, es una entidad clínica caracterizada por neoformación ósea perióstica secundaria a un proceso inflamatorio agudo. De baja frecuencia, su curso clínico es generalmente autolimitado y de excelente pronóstico. Objetivo: Presentar el caso de un lactante portador de un cuadro clínico compatible con una hiperostosis cortical infantil. Caso clínico: Lactante varón, 4 meses de edad, previamente sano, que consultó por presentar irritabilidad, llanto, aumento de volumen en la cara, los brazos y las piernas. Se observó aumento de volumen al nivel de la rama mandibular bilateral, simétrica, sensible, sin cambios en la coloración, la temperatura o la textura, hasta la región preauricular. El estudio bioquímico fue normal, y el estudio radiológico mostró reacción perióstica (periostitis e hiperostosis) al nivel de la rama mandibular, el fémur izquierdo, la tibia y el radio bilateral. Se manejó con antipiréticos, antiinflamatorios y analgésicos, y estuvo en observación en el servicio de urgencias durante 6 h, donde se decidió su egreso y el manejo ambulatorio. La sintomatología cedió por completo entre 4 y 6 semanas después del alta. Conclusión: La hiperostosis cortical es una colagenopatía que debe ser considerada como diagnóstico diferencial en cuadros agudos de inflamación ósea, irritabilidad y fiebre. Es indispensable conocerla para sospecharla y la correlación clínico-radiológica es notable.

Infantile Cortical Hyperostosis, or Caffey-Silverman disease, is a rare condition characterised by generalised bone proliferation mediated by an acute inflammatory process. Diagnosis can be made through clinical evaluation and X-ray studies. The course is generally self-limiting and prognosis is excellent. Objective: To present the case of a 4-month child with clinical and radiological symptoms compatible with Infantile Cortical Hyperostosis. Case report: A 4-month old male who presented with crying and irritability associated with swelling of the face, arms and legs was admitted to the Emergency Room of National Institute of Pediatrics. Bilateral mandibular swelling extending to periauricular region was observed, with no signs of inflammation. X-ray studies showed a periosteal reaction in the jaw, left femur and tibia, and radius bilateral. Clinical observation combined with analgesics and antipyretics was the only medical intervention. Four to six months after discharge from hospital, the symptoms disappeared, confirming the good prognosis of this condition. Conclusion: Infantile cortical hyperostosis is a collagenopathy, which must be considered as a differential diagnosis in acute bone inflammatory processes, irritability and fever. It is important to understand and identify this disease and clinical-radiological correlation is remarkable.

[Infantile cortical hyperostosis: Case report]. / Hiperostosis cortical infantil: reporte de caso.

Infantile Cortical Hyperostosis, or Caffey-Silverman disease, is a rare condition characterised by generalised bone proliferation mediated by an acute inflammatory process. Diagnosis can be made through clinical evaluation and X-ray studies. The course is generally self-limiting and prognosis is excellent. OBJECTIVE: To present the case of a 4-month child with clinical and radiological symptoms compatible with Infantile Cortical Hyperostosis. CASE REPORT: A 4-month old male who presented with crying and irritability associated with swelling of the face, arms and legs was admitted to the Emergency Room of National Institute of Pediatrics. Bilateral mandibular swelling extending to periauricular region was observed, with no signs of inflammation. X-ray studies showed a periosteal reaction in the jaw, left femur and tibia, and radius bilateral. Clinical observation combined with analgesics and antipyretics was the only medical intervention. Four to six months after discharge from hospital, the symptoms disappeared, confirming the good prognosis of this condition. CONCLUSION: Infantile cortical hyperostosis is a collagenopathy, which must be considered as a differential diagnosis in acute bone inflammatory processes, irritability and fever. It is important to understand and identify this disease and clinical-radiological correlation is remarkable.

Cortical hyperostosis as a side-effect of prolonged use of prostaglandins.

Cortical hyperostosis is a very uncommon side-effect of prolonged prostaglandin therapy with distinctive radiological signs that may be accompanied by painful swelling of the limbs and responds rapidly to withdrawal of therapy.

Infantile cortical hyperostosis - a report of Saudi family.

A 2-weeks-old Saudi neonate was apparently well till the 10th day of life when a swelling of the right groin was noted accompanied by irritability and fever, without history of trauma. On examination: the girl was irritable and febrile, the mass was firm, ill defined, fixed and tender. The state of the underlying skin was normal. There was family history of 3 siblings with similar swellings in the neonatal period and one of them had recurrence of the condition till the age of 7 year. The radiological findings indicated diaphysis hyperostosis, sparring of the epiphysis and the benign course of the disease. With exclusion of syphilis, osteomyelitis and trauma, the likely diagnosis would be infantile cortical hyperostosis. Such diagnosis should not be overlooked when faced by bony swellings in neonates.

Hypophosphatemic osteomalacia and bone sclerosis caused by a novel homozygous mutation of the FAM20C gene in an elderly man with a mild variant of Raine syndrome.

BACKGROUND: Hypophosphatemia and increased serum fibroblast growth factor 23 (FGF23) levels have been reported in young brothers with compound heterozygous mutations for the FAM20C gene; however, rickets was not observed in these cases. We report an adult case of Raine syndrome accompanying hypophosphatemic osteomalacia with a homozygous FAM20C mutation (R408W) associated with increased periosteal bone formation in the long bones and an increase in bone mineral density in the femoral neck. CASE: The patient, a 61-year-old man, was born from a cousin-to-cousin marriage. A short stature and severe dental demineralization were reported at an elementary school age. Hypophosphatemia was noted inadvertently at 27years old, at which time he started to take an active vitamin D metabolite (alphacalcidol) and phosphate. He also manifested ossification of the posterior longitudinal ligament. On bone biopsy performed at the age of 41years, we found severe osteomalacia surrounding osteocytes, which appeared to be an advanced form of periosteocytic hypomineralized lesions compared to those reported in patients with X-linked hypophosphatemic rickets. Laboratory data at 61years of age revealed markedly increased serum intact-FGF23 levels, which were likely to be the cause of hypophosphatemia and the decreased level of 1,25(OH)2D. We recently identified a homozygous FAM20C mutation, which was R408W, in this patient. When expressed in HEK293 cells, the R408W mutant protein exhibited impaired kinase activity and secretion. DISCUSSION: Our findings suggest that certain homozygous FAM20C mutations can cause FGF23-related hypophosphatemic osteomalacia and indicate the multiple roles of FAM20C in bone.

A rare variant of Caffey's disease - X-rays, bone scan and FDG PET findings.

An 18-month-old boy with history of fever of 4 months duration and with swelling of the limbs was referred for a bone scan. There were multiple swellings over his upper and lower limbs, with bowing of the lower limbs. His radiological skeletal survey revealed marked periosteal new bone formation surrounding the diaphysis of long bones. A bone scan done with 99m Tc-MDP showed diffusely increased tracer uptake in all the long bones. A fluorodeoxyglucose positron emission tomography (FDG PET) scan done to assess the metabolic activity showed patchy FDG uptake in the long bones, ankle joint and anterior ends of few ribs. His clinical and imaging findings led to the diagnosis of Caffey's disease.

Hiperostosis cortical neonatal: un efecto colateral de la administración prolongada de prostaglandinas E1 / Neonatal cortical hyperostosis: a side effect of prolonged prostaglandin E1 infusion

La infusión de prostaglandinas E1 (PGE1) es habitualmente administradapor tiempos cortos para mantener la permeabilidad del ductus arterioso en lactantes con cardiopatías congénitas. En pacientes a la espera de la cirugía cardíaca el tratamiento puede prolongarse. Pueden ocurrir efectos colaterales, en su mayoría reversibles con la supresión del tratamiento. La hiperostosis cortical es una complicación frecuente de la administración prolongada de PGE1.Objetivo: Determinar la incidencia y gravedad de la hiperostosis cortical en neonatos que requieren infusión prolongada de prostaglandinas E1. Se estudiaron 61 recién nacidos con cardiopatías congénitas admitidos en la Unidad de Cuidados Intensivos Neonatales de la Clínica Bazterrica, desde enero del 2006 hasta mayo del 2010. Cinco recién nacidos recibieron tratamiento prolongado con PGE1. Cuatro presentaron evidenciaclínica y radiológica de hiperostosis cortical con elevados niveles séricos de fosfatasa alcalina. Diagnosticar esta entidad permitirá evitar estudios complementarios innecesarios o la suspensión de la cirugía cardíaca.

Prostaglandin E1 (PGE1) infusion is usually administered for short periods to maintain patency of ductus arteriosus in infants with cyanotic heart disease. Prolonged therapy may be necessary while patients are awaiting surgical treatment. Several side effects occur at the onset of the treatment, most of them reversible once the treatment is discontinued. Cortical hyperostosis is a frequent complication of prolonged PGE1 infusion. Objective is to determine the incidence and severity of cortical hyperostosis in newborn requiring prolonged prostaglandin E1 infusion. 61 newborn babies were admitted in the Neonatal Intensive Care Unit at Bazterrica Clinic, Buenos Aires City, from January 2006 to May 2010. Five newborn received prolonged PGE1 therapy defined as a longer-than-one-week treatment. Four of them had radiologic evidence of cortical hyperostosis and elevated serum alkaline phosphatase. Accurate and rapid diagnosis of this condition is critical to reduce unnecessary laboratory tests and to avoid cardiac surgery canceling.

Hiperostosis cortical neonatal: un efecto colateral de la administración prolongada de prostaglandinas E1 / Neonatal cortical hyperostosis: a side effect of prolonged prostaglandin E1 infusion

La infusión de prostaglandinas E1 (PGE1) es habitualmente administradapor tiempos cortos para mantener la permeabilidad del ductus arterioso en lactantes con cardiopatías congénitas. En pacientes a la espera de la cirugía cardíaca el tratamiento puede prolongarse. Pueden ocurrir efectos colaterales, en su mayoría reversibles con la supresión del tratamiento. La hiperostosis cortical es una complicación frecuente de la administración prolongada de PGE1.Objetivo: Determinar la incidencia y gravedad de la hiperostosis cortical en neonatos que requieren infusión prolongada de prostaglandinas E1. Se estudiaron 61 recién nacidos con cardiopatías congénitas admitidos en la Unidad de Cuidados Intensivos Neonatales de la Clínica Bazterrica, desde enero del 2006 hasta mayo del 2010. Cinco recién nacidos recibieron tratamiento prolongado con PGE1. Cuatro presentaron evidenciaclínica y radiológica de hiperostosis cortical con elevados niveles séricos de fosfatasa alcalina. Diagnosticar esta entidad permitirá evitar estudios complementarios innecesarios o la suspensión de la cirugía cardíaca.(AU)

Prostaglandin E1 (PGE1) infusion is usually administered for short periods to maintain patency of ductus arteriosus in infants with cyanotic heart disease. Prolonged therapy may be necessary while patients are awaiting surgical treatment. Several side effects occur at the onset of the treatment, most of them reversible once the treatment is discontinued. Cortical hyperostosis is a frequent complication of prolonged PGE1 infusion. Objective is to determine the incidence and severity of cortical hyperostosis in newborn requiring prolonged prostaglandin E1 infusion. 61 newborn babies were admitted in the Neonatal Intensive Care Unit at Bazterrica Clinic, Buenos Aires City, from January 2006 to May 2010. Five newborn received prolonged PGE1 therapy defined as a longer-than-one-week treatment. Four of them had radiologic evidence of cortical hyperostosis and elevated serum alkaline phosphatase. Accurate and rapid diagnosis of this condition is critical to reduce unnecessary laboratory tests and to avoid cardiac surgery canceling.(AU)