ABSTRACT
Introducción: Las enfermedades peroxisomales son un grupo de trastornos monogénicos que incluyen desórdenes en la biogénesis del peroxisoma o deficiencias enzimáticas. La Condrodisplasia Rizomélica Punctata Tipo 1 (RCDP1) pertenece al primer grupo, es autosómica recesiva originada por mutaciones del gen PEX7, que codifica para el receptor PTS2. El objetivo del presente artículo son describir una enfermedad genética de baja prevalencia, explicando sus principales características y la importancia de la aproximación diagnóstica y asesoría genética. Caso clínico: Lactante masculino de 13 meses, sin antecedentes familiares ni consanguinidad. Al nacimiento presentaba acortamiento de miembros superiores. Fue intervenido a los 7 meses por catarata bilateral. Presentaba severo retardo del crecimiento, retraso del desarrollo psicomotor, anomalías menores craneofaciales, acortamiento rizomélico de miembros superiores y en menor grado de miembros inferiores. En la radiografía se identificaban calcificaciones punteadas del cartílago en rótula. Entre los exámenes de laboratorio destacaba elevación de los ácidos grasos fitánico y pristánico. El paciente falleció a la edad de 3 años. Discusión: Esta es una enfermedad rara, la prevalencia es 1/100.000, se han descrito diferentes mutaciones del gen PEX7 teniendo variación en el fenotipo. El tratamiento es básicamente sintomático y depende de la gravedad de las manifestaciones clínicas, el tipo rizomélico es de mal pronóstico, la mayoría de los pacientes no sobrevive antes de la primera década de vida. La asesoría genética es fundamental ya que se considera un riesgo del 25% de recurrencia.
Introduction: Peroxisomal diseases are a group of monogenic disorders that include defects in peroxisome biogenesis or enzyme dificiencies. Rhizomelic chondrodysplasia punctata type 1 (RCDP1) belongs to the first group, caused by autosomal recessive mutations on PEX7 gene, encoding for PTS2 receptor. The aims of this report are to describe a genetic disease of low prevalence, explaining its main characteristics and the importance of the diagnostic approach and genetic counseling. Case report: 13-month-old male infant with no medical history, family or consanguinity, demonstrate at birth upper limbs shortening. Surgery intervention at seven months old for bilateral cataract. Growth retardation, psychomotor retardation, minor craniofacial anomalies, rhyzomelic shortened upper limbs and lower limbs lesser degree. Punctata calcifications in patella cartilage. Also fatty acid phytanic and pristanic increased levels. Patient dead at age of 3 years. Discussion: RCDP1 is a rare disease, with a prevalence of 1/100,000. Different mutations of PEX7 gene have been described, with variations in phenotype. The treatment is basically symptomatic and depends on the severity of clinical manifestations. The rhizomelic type has poor prognosis, most patients do not survive before the first decade of live. Genetic counseling is essential because it is consider a 25% risk of recurrence.
Subject(s)
Humans , Male , Infant , Chondrodysplasia Punctata, Rhizomelic/diagnosis , Fatal Outcome , Chondrodysplasia Punctata, Rhizomelic/genetics , Peroxisomal Targeting Signal 2 Receptor/deficiency , Genetic CounselingABSTRACT
Apresentamos um caso de uma lactente de dois meses de idade acometida pela forma recessiva da condrodisplasia punctata, doença caracterizada, radiologicamente, por acentuado encurtamento proximal e distúrbio de ossificação (epífises puntiformes) dos membros. São enfatizados os achados clínico-radiológicos, bem como seus principais diagnósticos diferenciais, baseados em dados de breve revisão da literatura.
The authors present a case of a 2-month-old infant affected by the recessive form of chondrodysplasia punctata, a rare condition radiologically characterized by severe proximal shortening and anomalous ossification (epiphyseal stippling) of the limbs. Clinical and radiological findings as well as main differential diagnoses are emphasized on the basis of data originating from a brief literature review.
Subject(s)
Humans , Male , Infant , Chondrodysplasia Punctata, Rhizomelic , Chondrodysplasia Punctata, Rhizomelic/diagnosis , Chondrodysplasia Punctata, Rhizomelic/physiopathology , Bone Diseases, Developmental , Chondrodysplasia Punctata, RhizomelicABSTRACT
Chondrodysplasia Punctata is a rare congenital disorder of bone in infant, which is characterized by radiographic manifestation of premature deposition of punctata calcific density in epiphyseal areas, preformed in cartilage. Chondrodysplasia Punctata includes two different disorders: a rhizomelic, potentially lethal variety and a nonrhizomelic variety (Conradi-Hunermann syndrome) which is more common and generally benign. These two conditions have different clinical, genetic, and radiographic characteristics. We experienced a case of rhizomelic Chondrodysplasia Punctata (RCDP) in a fetus of intrauterine pregnancy at 19 weeks who was terminated because of ultrasonographic demonstration of gross skeletal and midfacial anomaly. Thus, we report a case with brief review of the literature.
Subject(s)
Humans , Infant , Pregnancy , Cartilage , Chondrodysplasia Punctata , Chondrodysplasia Punctata, Rhizomelic , Congenital, Hereditary, and Neonatal Diseases and Abnormalities , FetusABSTRACT
Objetivo: descrever um caso de condrodisplasia puntiformeforma rizomélica e apresentar uma breve revisão da literatura. Descrição: os autores descrevem o caso de uma criança de 52 dias de vida que apresentava os principais aspectos da síndrome: micromelia rizomélica, fácies característica, dificuldade de sucção e medidas antropométricas inferiores aos índices esperados para aidade. Radiografias do esqueleto revelaram encurtamento umeral e femoral bilateral e calcificações puntiformes nas articulações dos ombros, quadris e joelhos. O paciente apresentava também malformação cardíaca, manifestação menos comum da síndrome. Comentários: a forma rizomélica da condrodisplasia puntiforme é rara, com 72 casos publicados até 1995. O prognóstico é reservado, com óbito geralmente no primeiro ano de vida. O caso apresentado foi diagnosticado com base em critérios clínicos e radiológicos, pela impossibilidade de pesquisa dos marcadores bioquímicos peculiares
Subject(s)
Humans , Male , Infant , Chondrodysplasia Punctata , Chondrodysplasia Punctata, RhizomelicABSTRACT
Se presenta un caso clínico de condrodisplasia punctata, variedad rizomélica en un niño de 6 meses, cuyos padres son consanguíneos en primer grado. Se reportan las alteraciones cutáneas distribuidas a nivel de flexuras y zonas acrales no antes descritas en la literatura; asímismo, acortamiento de miembros (rizomelia) y calcificaciones en zonas epifisiales.
Subject(s)
Humans , Male , Infant , Chondrodysplasia Punctata , Chondrodysplasia Punctata, RhizomelicABSTRACT
Chondrodysplasia punctata is a rare congenital disease. It is classified into four main types according to the clinical features and heredity: autosomal dominant (Conradi-Hunermann's) type, autosomal recessive (rhizomelic) type, X-linked dominant type and X-linked recessive type. Among the four, rhizomelic chondrodysplasia punctata (RCDP) is the most lethal form of the disease, and most patients die in the neonatal period. Diagnosis of the RCDP relies on its characteristic features and radiological finding. The characteristic features are craniofacial dysmorphism (flat face, flat nasal bridge, anteverted nostril, telecanthus), cataracts, rhizomelic limb shortening, ichthyosis, and mental retardation. Radiologic findings include rhizomelic symmetrical shortening of upper or lower extremity, coronal cleft of vertebral body, metaphysical spraying and stippled calcification. This case shows typical abnormality in the face and extremity and also radiologic abnormality, uniquely combined with unilateral choanal atresia.
Subject(s)
Humans , Cataract , Choanal Atresia , Chondrodysplasia Punctata , Chondrodysplasia Punctata, Rhizomelic , Diagnosis , Extremities , Heredity , Ichthyosis , Intellectual Disability , Lower ExtremityABSTRACT
Rhizomelic chondrodysplasia punctata(RCDP) is a rare autosomal recessive disorder clinically characterized by symmetrical shortening of the proximal limbs, contractures of joints, a typical dysmorphic face, cataracts, and itchyosis. Patients with RCDP can be subdivided into three subgroups based on biochemical analysis and complementation studies. RCDP type I results from mutations in the PEX7 gene encoding the peroxisomal targeting signal type II(PST2) receptors and presents with both a defect in plasmalogen biosynthesis and phytanic acid oxidation. RCDP type II is deficient in the activity of dihydroxyacetonephosphate acyltransferase(DHAP-AT). RCDP type III is deficient in alkyl-dihydroxyacetonephosphate synthase(alkyl-DHAP). We report a case of RCDP type I which was confirmed with biochemical study, fibroblast culture, and gene study.
Subject(s)
Humans , Cataract , Chondrodysplasia Punctata, Rhizomelic , Complement System Proteins , Contracture , Extremities , Fibroblasts , Joints , Phytanic AcidABSTRACT
Chondrodysplasia punctata is a rare congenital disorder of bone, occuring in infants, which is characterized by radiographic manifestation of premature deposition of punctate calcific densitiy in epiphyseal areas, preformed in cartilage. We experienced a case of rhizomelic type-chondrodysplsia punctata in a two day old female who showed short stature, symmetric shortening of proximal limbs, cataract, icthyositic skin lesion and characteristic coronal clefts in lumbar vertebral bodies on X-ray.