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

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.

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.

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.

Síndrome Kenny-Caffey en varios miembros de una familia / Kenny-Caffey Syndrome in several members of a family

El síndrome Kenny-Caffey es una enfermedad hereditaria, extremadamente rara, que se transmite de forma autosómica dominante y se caracteriza por retraso del crecimiento, anomalías oculares, hipocalcemia y engrosamiento cortinal de los huesos largos, cuyo diagnóstico precoz e intervención temprana ayudarán a mejorar la calidad de vida de los afectados. Se presenta a 2 miembros de una familia (la madre y un hijo), atendidos en la consulta de genética clínica de la provincia de Holguín, con características clínicas que se correspondían con dicho síndrome, para compartir estos hallazgos con la comunidad médica en general, pues llamó la atención que estuvieran afectados 3 personas de una misma familia, aunque solo se describe a 2 de ellos

The Kenny-Caffey syndrome is a hereditary, extremely strange disease that is transmitted in an autosomal dominant way and is characterized by growth failure, ocular anomalies, hypocalcemia and cortinal swelling of the long bones whose early diagnosis and intervention will help to improve the life quality of affected patients. Two members of a family are presented (mother and a son), assisted in the clinical genetics service in Holguín, with clinical characteristics that fitted with this syndrome, to share these findings with the medical community in general, because the fact that 3 people of the same family were affected attracted attention, although just 2 of them are described

Enfermedad de Caffey: reporte de 2 casos / Caffey Disease: two cases´ report

En un período relativamente corto de tiempo se han hospitalizado en nuestro Servicio de Pediatría, dos lactantes pequeños (menores de 6 meses) con igual sintomatología: fiebre, irritabilidad y aumento de volumen de región mandibular, que al estudiarles y realizar diagnóstico diferencial se llega a la conclusión de estar afectados por una hiperostosis cortical infantil (Enfermedad de Caffey).

In a relatively short period of time, there has been hospitalized in the Pediatric Service, two little breast-fed infants (under 6 months) with same symptomatology: fever, irritability and volume´s increase of mandibular region, that when studying and doing the differential diagnosis, resulted of been affected by an infantile cortical hyperostosis (Caffey Disease).

Kenny-Caffey syndrome.

Kenny-Caffey syndrome is a rare hereditary skeletal syndrome characterized by dysmorphic features, severe growth retardation, classical radiological changes and hypocalcemia with hypoparathyroidism at an early age. We report an 8-month-old girl child with Kenny-Caffey syndrome who had most of the features of the syndrome. Any child with hypocalcemia who has typical facial features should raise a suspicion of this syndrome.

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.