Afectación respiratoria en paciente con acrodisostosis: una asociación infrecuente de una enfermedad rara / Respiratory impairment in a patient with acrodysostosis: A rare association of an uncommon pathology

La acrodisostosis es una displasia esquelética rara, de herencia autosómica dominante, que se caracteriza por la presencia de disostosis facial y periférica, talla baja y diferentes grados de obesidad. La acrodisostosis de tipo 1, secundaria a la mutación heterocigota en el gen PRKAR1A (17q24.2), se caracteriza por la asociación de resistencia hormonal múltiple con anomalías esqueléticas. Su incidencia está infradiagnosticada debido a que comparte rasgos clínicos y de laboratorio con otras entidades como el seudohipoparatiroidismo. Presentamos el caso de una niña de 8 años, con acrodisostosis tipo 1, confirmada mediante estudio genético. Además del fenotipo característico descrito, la talla baja y la resistencia hormonal, la paciente presentó una afectación progresiva de la función pulmonar: un patrón pulmonar obstructivo no reversible. En la literatura revisada, no se han encontrado otros casos que describan esta asociación entre acrodisostosis y afectación respiratoria.

Acrodysostosis is a rare skeletal displasia, of autosomal dominant inheritance, characterized by the presence of facial and peripheral dysostosis, short stature and obesity. Type 1 acrodysostosis is secondary to a mutation in the PRKAR1A (17q24.2) gene, which results in multi hormonal resistance and skeletal anomalities. This syndrome is under-diagnosed as it shares analytical and clinical characteristics with other entities, such as pseudohypoparathyroidism. We report the case of an eight-year-old girl with genetically confirmed type 1 acrodysostosis. In addition to the characteristic phenotype described, the short stature and the hormonal resistance, the patient suffered a progressive lung function deterioration: an irreversible pulmonary obstructive pattern. We have not found in previous literature cases reporting an association between acrodysostosis and lung function impairement.

Diagnóstico prenatal del síndrome de Jarcho-Levin / Prenatal diagnosis of Jarcho-Levin syndrome

El síndrome de Jarcho-Levin es una rara entidad heterogénea caracterizada por dismorfia facial, extremidades de tamaño normal con cuello y tronco corto, múltiples anomalías vertebrales en todos los niveles de la columna vertebral y defectos costales. El síndrome se ha clasificado en 2 fenotipos clínicos principales, según la extensión y distribución de las anomalías esqueléticas, el patrón de herencia y el pronóstico. El diagnóstico ecográfica prenatal se caracteriza por la presencia de costillas desplegadas a partir de cuerpos vertebrales torácicos fusionados. Debido a la rareza de esta condición, existe un número limitado de informes en la literatura científica y muy pocos se diagnostican prenatalmente. Es un caso de síndrome de Jarcho-Levin en una mujer de 16 años con embarazo de 31 semanas y sin antecedentes patológicos prominentes. La ecografía reveló feto único con datos biométricos compatibles con 27 semanas. Se observó columna vertebral acortada con deformidad extrema y escoliosis moderada, canal medular ancho, segmentación de cuerpos vertebrales en las áreas torácicas y lumbares inferiores, aumento de la distancia intervertebral con tórax corto y estrecho, cuello corto hiperflexionado y occipucio que parecía fusionarse con las vértebras cervicales. Se realizó cesárea debido a sufrimiento fetal agudo, obteniendo recién nacido masculino. El examen físico mostró circunferencia cefálica normal, tórax corto, cuello corto y rígido, cifoescoliosis torácica con restricción del patrón respiratorio y abdomen abultado. No se observaron alteraciones faciales o craneales. Después de 4 días, el recién nacido muere debido a falla respiratoria aguda.

The Jarcho-Levin syndrome is a rare heterogeneous entity characterized by facial dysmorphism, short-neck, short-trunk, normal sizes limbs, with multiple vertebral anomalies at all levels of the vertebral column and ribs defects. The syndrome has been classified into 2 major clinical phenotypes, based on the extent and distribution of skeletal anomalies, the pattern of inheritance and the prognosis. The prenatal sonographic appearance is characterized by the presence of fanned-out ribs from fused thoracic vertebral bodies. Due to the rarity of this condition, there are a limited number of reports in the scientific literature and very few are diagnosed prenatally. We report a case of Jarcho-Levin syndrome in a 16-year-old pregnant woman with a 31 weeks pregnancy and no prominent pathological history. Ultrasound revealed a single fetus with biometrics compatible with 27 weeks. We found shortened vertebral column with extreme deformity and moderate scoliosis, wide medullary canal, segmentation of vertebral bodies in the lower thoracic and lumbar areas, increased intervertebral distance with the short and narrow thorax, hyper flexed short neck and occiput appeared to merge with the cervical vertebrae. Cesarean section was performed at term due to acute fetal distress, resulting in a newborn male birth. Physical examination showed normal cephalic circumference, short thorax, short and rigid neck, thoracic kyphoscoliosis with restriction of the respiratory pattern, bulging abdomen. No facial or cranial alterations were observed. After 4 days the newborn dies due to acute respiratory failure.

Coxa vara in conjunction with metaphyseal dysostosis

We describe a rare case of unilateral development of coxa vara secondary to metaphyseal dysostosis encountered in a 6-year-old boy. Family history and radiographic documentation revealed a 31-year-old father with a typical clinical history. Proximal femoral intertrochanteric valgus osteotomy and a revision cup [Allofit] have been performed for the child and his father respectively

A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth / 소아과

Mucolipidosis II (ML II) or inclusion cell disease (I-cell disease) is a rarely occurring autosomal recessive lysosomal enzyme-targeting disease. This disease is usually found to occur in individuals aged between 6 and 12 months, with a clinical phenotype resembling that of Hurler syndrome and radiological findings resembling those of dysostosis multiplex. However, we encountered a rare case of an infant with ML II who presented with prenatal skeletal dysplasia and typical clinical features of severe secondary hyperparathyroidism at birth. A female infant was born at 37(+1) weeks of gestation with a birth weight of 1,690 g (T (p.Arg1031X) and c.3456_3459dupCAAC (p.Ile1154GlnfsX3), the latter being a novel mutation. The infant was treated with vitamin D supplements but expired because of asphyxia at the age of 2 months.

Pyknodysostosis: report of a rare case with review of literature

Pyknodysostosis is a rare autosomal recessive disorder characterized by the post natal onset of short limbs, short stature, and generalized hyperostosis along with acro-osteolysis with sclerosis of the terminal phalanges, a feature that is considered essentially pathognomonic. Other features include persistence of fontanelles, delayed closure of sutures, wormian bones, absence of frontal sinuses, and obtuse mandibular gonial angle with relative mandibular prognathism. We report a case of 17-year-old girl who presented with a chief complaint of retention of deciduous teeth. General physical examination demonstrated short stature, frontal and parietal bossing, depressed nasal bridge, beaked nose, hypoplastic midface, wrinkled skin over the finger tips, and nail abnormalities. Radiographs showed multiple impacted permanent and supernumerary teeth, hypoplastic paranasal sinuses with acro-osteolysis of terminal phalanges, and open fontanelles, and sutures along with wormian bones in the lambdoidal region.

Acrodysostosis Associated with Symptomatic Cervical Spine Stenosis

Acrodysostosis is an extremely rare disorder characterized by short fingers and toes with peripheral dysostosis, nasal hypoplasia, and mental retardation. We report a 16-year-old Korean boy with acrodysostosis who had characteristic clinical features and cervical spine stenosis manifested by neurologic symptoms. On presentation, he complained of difficulty in raising his arms, and suffered from intermittent pain and weakness in both upper extremities. He had short stature and dysmorphic facial features, including a broad, depressed nasal bridge, small, upturned nose, bilateral epicanthal folds, and mild hypertelorism. Moderate mental retardation and sensorineural hearing loss in both ears were also present. Radiological findings included broad, short metacarpals and phalanges with cone-shaped epiphyses, bilateral Madelung deformities, hypertrophied first metatarsals, and thickening of the calvarium. Magnetic resonance imaging findings included stenosis of the cervical spine, platybasia with compression into the cervicomedullary junction, and downward displacement of the cerebellar tonsils. Here, we report a case of acrodysostosis with symptoms and signs of cervical spinal stenosis first in Korea. If it is diagnosed in the early stages, possible life-threatening complications, including spinal canal stenosis, can be managed properly and permanent neurologic sequelae might be avoided. Therefore, it is important to consider acrodysostosis in the differential diagnosis of peripheral dysostosis.

Tomographic assessment of the spine in children with spondylocostal dysotosis syndrome

OBJECTIVE: The aim of this study was to perform a detailed tomographic analysis of the skull base, craniocervical junction, and the entire spine in seven patients with spondylocostal dysostosis syndrome. METHOD: Detailed scanning images have been organized in accordance with the most prominent clinical pathology. The reasons behind plagiocephaly, torticollis, short immobile neck, scoliosis and rigid back have been detected. Radiographic documentation was insufficient modality. RESULTS: Detailed computed tomography scans provided excellent delineation of the osseous abnormality pattern in our patients. CONCLUSION: This article throws light on the most serious osseous manifestations of spondylocostal dysostosissyndrome.

Disostose espôndilo-costal associada a defeitos de fechamento do tubo neural / Spondylocostal dysostosis associated with neural tube defects

OBJETIVO: Salientar a relação dos defeitos de fechamento do tubo neural com a disostose espôndilo-costal (DEC) por meio da descrição de três pacientes. DESCRIÇÃO DOS CASOS: Paciente 1: menina branca, 22 meses, nascida com mielomeningocele lombar. Na avaliação, apresentava hipotonia, baixa estatura, dolicocefalia, fendas palpebrais oblíquas para cima, pregas epicânticas e tronco curto com tórax assimétrico. A avaliação radiográfica revelou hemivértebras múltiplas, vértebras em borboleta e fusão e ausência de algumas costelas. Paciente 2: menina branca, 22 meses, com moderado atraso do desenvolvimento neuropsicomotor, baixa estatura, olhos profundos, pregas epicânticas, pescoço e tronco curtos com assimetria do tórax, abdome protruso, hemangioma plano na altura da transição lombossacra e fosseta sacral profunda no dorso. A avaliação radiográfica identificou hemivértebras, fusão incompleta de vértebras e vértebras em borboleta, malformações de costelas e espinha bífida oculta em L5/S1. Paciente 3: menina branca, 9 dias de vida, com fendas palpebrais oblíquas para cima, ponte nasal alargada, orelhas baixo implantadas e rotadas posteriormente, tronco curto, tórax assimétrico e meningocele tóraco-lombar. A avaliação radiográfica evidenciou hemivértebras, malformação e ausência de algumas costelas e agenesia diafragmática à esquerda. A tomografia computadorizada de encéfalo mostrou estenose de aqueduto. COMENTÁRIOS: Vários defeitos de fechamento do tubo neural, de espinha bífida oculta a grandes mielomeningoceles, são observados em pacientes com DEC, indicando que tais pacientes devem ser cuidadosamente avaliados quanto à possível presença desses defeitos.

OBJECTIVE: To highlight the relationship between neural tube defects and spondylocostal dysostosis (SCD) through the description of three patients. CASES DESCRIPTION: Patient 1: white girl, 22 months old, born with a lumbar meningomyelocele. At evaluation, she presented hypotonia, short stature, dolichocephaly, upslanting palpebral fissures, bilateral epicanthal folds, and short trunk with an asymmetric thorax. Radiographic examination showed multiple hemivertebrae, butterfly vertebrae, fusion and absence of some ribs. Patient 2: white girl, 22 months old, with moderate neuropsychomotor delay, short stature, deep set eyes, bilateral epicanthal folds, short neck and trunk with an asymmetric thorax, protruding abdomen, hemangioma at the level of lumbosacral transition and deep sacral dimple. The radiographic evaluation showed hemivertebrae, incomplete fusion of vertebrae and butterfly vertebrae, costal malformations and spina bifida occulta in L5/S1. Patient 3: white girl, nine days old, with upslanting palpebral fissures, broad nasal bridge, anteverted nostrils, low-set and posteriorly rotated ears, short trunk with asymmetric thorax, and thoracolombar meningocele. Radiographic evaluation showed several hemivertebrae, malformation, absence of some ribs, and diaphragmatic agenesia at left. Brain tomography showed an aqueductal stenosis. COMMENTS: Several neural tube defects, from spina bifida occulta to large meningomyelocele, are observed in patients with SCD. Thus, these patients should be carefully evaluated regarding the possible presence of such defects.

Correction of Frontal Bone Defect in Cleidocranial Dysostosis with Porous Polyethylene(Medpor(R)): A Case Report

PURPOSE: Cleidocranial dysostosis is a rare hereditary disorder affecting bones that develop by intramembranous formation. The typical features include excessive growth of transverse diameter of the skull, hypoplastic clavicles, low height and characteristic facial features. METHODS: A 28-year-old female patient visited by frontal area depression. The diagnosis was performed by computed tomographic study and radiographic imaging. The patient had widely opened anterior fontanelle, partial fused metopic suture, multiple wormian bone and supernumenary impacted teeth. Under the coronal incision, we exposed depressed frontal area and corrected with Medpor block carving. RESULTS: Postoperatively frontoparietal skull was aestheticlly improved and satisfied the patient. CONCLUSION: Authors report a case of cleiodocranial dysostosis who underwent correction of abnormal skull shape by Medpor(R) insertion.

La enfermedad de Henri de Toulouse-Lautrec / Toulousse-Lautrec disease

Toulouse Lautrec, uno de los grandes artistas de la pintura universal, fue portador de un defecto físico congénito que influyó en su vida y desarrolló como pintor. Sometido a los estragos del alcoholismo y sífilis, que motivaron su muerte, se ha postulado que su enfermedad de base es una rara enfermedad metabólica hereditaria llamada Picnodisostosis. En este artículo se revisan los aspectos médicos de la vida de este innovador artista.

Toulouse- Lautrec remains as an innovator master of the universal painting. He suffers from an inborn bone disease postulated to be Picnodysostoses. Furthermore, he was alcohol and absinthe addict and a syphilis carrier which led him to death at an early age. In this review the medical aspects of the life of this influential artist are analyzed.

A Case of Shwachman-Diamond Syndrome Confirmed with Genetic Analysis in a Korean Child

Shwachman-Diamond syndrome (SDS) is an autosomal recessive genetic disorder, consisting of exocrine pancreatic insufficiency, chronic neutropenia, neutrophil chemotaxis defects, metaphyseal dysostosis, short stature, dental caries, and multiple organ involvements. Although SDS is the second most common hereditary abnormality of exocrine pancreas following cystic fibrosis in the Western countries, it has rarely been reported in Asia. We diagnosed a case of SDS in a 42-month-old girl, and genetic analysis including the relatives of the patient confirmed the diagnosis for the first time in Korea. She had short stature, steatorrhea, dental caries, and recurrent prulent otitis media and pneumonias. Laboratory studies revealed cyclic neutropenia, and serum levels of trypsin, amylase, and lipase were decreased. Simple radiography revealed metaphyseal sclerotic changes at the distal femur. A CT scan demonstrated a fatty infiltration and atrophy of the pancreas. On direct sequencing analysis of Shwachman-Bodian-Diamond Syndrome gene exon 2 region, the patient was homozygous for the c.258+2T>C mutation and heterozygous for the c.183_184TA>CT mutation and c.201A>G single nucleotide polymorphism. Treatment with pancreatic enzyme replacement, multivitamin supplementation, and regular to high fat diet improved her weight gain and steatorrhea.

Binder Syndrome Infant Born from Mother with Cholelithiasis / 대한소아내분비학회지

Binder syndrome is a maxillonasal dysostosis characterized by midface and nasal hypoplasia. It is sometimes associated with short terminal phalanges of fingers and toes and transient radiological features of chondrodysplasia punctata. It is associated with vitamin K deficiency during pregnancy. We describe here a baby with Binder syndrome who was born from mother with cholelithiasis during pregnancy.

Displasia cleidocraniana - apresentação de um caso clínico / Cleidocranial dysostosis - case report

Os autores, após breve introdução, fizeram uma revisão da literatura sobre o assunto e descreveram os aspectos clínicos, radiográficos da displasia cleidocraniana. A seguir relataram o diagnóstico e o tratamento odontológico de um paciente leucoderma, com quatorze anos de idade, portador de displasia cleidocraniana. Fotos e radiografias da face e dos dentes foram apresentadas...

After a short introduction, the authors related a bibliographical research about cleidocranial dysostosis. The general physical and dental findings were described. The diagnosis and dental treatment, the clinical and radiographic aspects of a patient 14 years old that had cleidocranial dysostosis have been presented. Many photography as well as radiographies were showed...

Joubert syndrome with peripheral dysostosis: A case report of long term follow-up / 소아과

This report describes the long-term follow-up of a 10-year-old female patient with Joubert syndrome with short stature and brachydactyly. She presented with hyperpnea alternated with hypopnea, uncontrolled jerking eye movements, and hypotonia during early infancy. She was diagnosed with Joubert syndrome based on clinical symptoms and typical MRI findings at 5 months of age. Abnormal ventilation and eye movements disappeared at around 4 years of age. Head circumference kept within normal range for her age, but her height and weight growth were markedly retarded. Simple X-ray showed an enlarged skull with increased digital markings, hypoplasia of facial bones, and abnormal enchondral bone formations in hands and feet. This article is the first report of Joubert syndrome with peripheral dysostosis.

Seudoartrosis congénita de clavícula patología de alta confusión diagnóstica / Congenital pseudarthrosis of clavicle, differential diagnosis pathology

La seudoartrosis congénita de clavícula es una entidad rara, casi siempre aparece sin asociación a otras patologías y generalmente no ocasiona limitaciones importantes en los niños. Puede confundirse con otras entidades como la fractura de clavícula de origen traumático. La mayoría de los pacientes consultan por defecto estético y pocas veces por dolor. Generalmente el tratamiento es quirúrgico; pero existe controversia sobre la necesidad de realizar cirugía. Presentamos dos casos clínicos con seudoar según los últimos parámetros o leyes y trosis de la clavícula derecha que recibieron tratamiento quirúrgico con resultados satisfactorios

Achados radiológicos em pacientes com mucopolissacaridose tipo VI (síndrome de Maroteaux-Lamy) / Radiological findings in patients with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)

OBJETIVO: Sistematizar os achados radiológicos dos pacientes com mucopolissacaridose VI atendidos na Unidade de Genética e no Serviço de Diagnóstico por Imagem do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. MATERIAL E MÉTODO: Cinco pacientes com mucopolissacaridose VI (dois meninos e três meninas) foram incluídos no estudo, e em todos foi realizado estudo radiológico completo. RESULTADOS: A idade variou de oito anos e um mês a 20 anos e cinco meses (idade média de 14 anos e dois meses). Os achados radiológicos observados em todos os pacientes foram: macrocefalia, fechamento precoce das suturas, costelas " em forma de remo", fossa glenóidea hipoplásica, úmero proximal "em forma de machado", teto acetabular hipoplásico e irregular, colo femoral afilado, ossos do carpo pequenos e irregulares. CONCLUSÃO: Os pacientes apresentaram achados radiológicos compatíveis com a doença. O paciente de maior idade, em estágio mais evoluído, apresentou achados mais acentuados, comprovando ser uma doença progressiva. O estudo radiológico é um auxílio para o diagnósltico e evolução clínica.

OBJECTIVE: To systematize the radiological findings in patients diagnosed with mucopolysaccharidosis VI examined at the Genetic Unit and at the Image Diagnostic Service of "Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo". MATERIAL AND METHOD: Five patients with mucopolysaccharidosisVI (two boys and three girls) were included in this study. A complete X-Ray survey was performed in all patient. RESULTS: The patients age rangedfrom 8y1mo to 20y5mo (mean age 14y2mo). The radiological findings observed in all patients were: macrocephaly, premature closure of the sutures, oar shaped ribs, hypoplastic glenoid fossae, hatchet-like aspect of the proximal humerus, irregular and hypoplastic acetabular roofs, thin femoral neck and small and irregular carpal bones. CONCLUCION: The radiographic findings seen on patients were consistent with the disease. Marked findings that confirmed the progression of the disease were seen in the oldest patient with the most advanced stage of the disease. X-ray survey was an important supportive method for the diagnosis and follow-up of clinical progress.

Acrodysostosis: autosomal dominant transmission.

We describe a two and half year old male child with acrodysostosis, presenting with nasal hypoplasia, peripheral dysostosis (gross shortening of hands and feet), cone-shaped epiphysis, advanced bone age, and mental retardation. He and his mother also had bilateral first ray hyperplasia of the feet thereby expressing the autosomal dominant inheritance pattern.

Thoracic three-dimensional spiral CT findings of an infant with spondylothoracic dysostosis.

Spondylocostal dysostoses are a group of rare inherited disease with a heterogeneous disorder of vertebral segmentation defects and rib anomalies, which lead to respiratory problems predicting the clinical outcome. Spiral CT with three-dimensional (3D) imaging provides exact measurement of the bony rib cage. We report a case of an infant with spondylothoracic dysostosis, a phenotype of spondylocostal dysostoses, and 3D spiral CT findings of his rib cage since it may contribute to the surgical planning.