RESUMO
Chondrodysplasia punctata (CDP) is a rare congenital syndrome characterized by aberrant, punctate deposition of calcium during endochondral bone formation, resulting in the characteristic finding of epiphyseal stippling on radiographs. While otolaryngologic manifestations such as nasomaxillary hypoplasia and mixed hearing loss are common, tracheobronchial calcification occurs rarely in neonates with CDP. The management of CDP-related airway stenosis is complex and there is limited literature pertaining to outcomes of airway interventions. Herein, we describe the clinical course and outcome of tracheal dilation for a newborn patient with CDP. Laryngoscope, 134:1464-1468, 2024.
Assuntos
Condrodisplasia Punctata , Recém-Nascido , Humanos , Constrição Patológica/cirurgia , Condrodisplasia Punctata/complicações , Condrodisplasia Punctata/diagnóstico por imagem , Radiografia , Traqueia , NarizRESUMO
Conradi-Hünermann-Happle syndrome is rare X-linked dominant syndrome associated with stippled epiphyseal calcifications, congenital cataracts, Blaschkoid ichthyosiform scaling, and follicular atrophoderma. This case describes a novel finding of hypocalcemia and hypoparathyroidism in an infant with Conradi-Hünermann-Happle syndrome.
Assuntos
Condrodisplasia Punctata , Hipocalcemia , Condrodisplasia Punctata/complicações , Condrodisplasia Punctata/diagnóstico , Condrodisplasia Punctata/genética , Humanos , Hipocalcemia/complicações , Hipocalcemia/diagnóstico , Hipocalcemia/tratamento farmacológico , Lactente , Recém-NascidoRESUMO
CASE: A 4-year-old girl with spastic gait and hand clumsiness who was diagnosed with cervical myelopathy caused by atlantoaxial dislocation and midcervical severe kyphosis associated with chondrodysplasia punctata (CDP). The patient underwent posterior instrumentation and anterior spinal fusion and successful correction with osseous fusion was obtained 8 months after surgery. In addition, the preoperative neurological symptoms were completely recovered. CONCLUSION: Owing to the characteristics of CDP, the treatment for the cervical lesion is extremely complicated. Successful stabilization and improvement of the neurological symptom were achieved by combining posterior and anterior fusion with instrumentation in this case.
Assuntos
Condrodisplasia Punctata , Cifose , Doenças da Medula Espinal , Fusão Vertebral , Pré-Escolar , Condrodisplasia Punctata/complicações , Feminino , Humanos , Cifose/complicações , Cifose/diagnóstico por imagem , Fusão Vertebral/efeitos adversosRESUMO
Cochlear implantation is becoming more widespread. From its early days to date, huge strides have been made in the technology and surgical technique. However, one challenge remains: implanting malformed or abnormal cochleae. Even more challenging is a cochlea that appears normal at first glance, but is not. We present a case of a child with chondrodysplasia punctata, who had apparently morphologically normal inner ears, but with one major obstacle: the cochlea was smaller than normal in all dimensions. To the best of our knowledge, this is the first case described, and the solution is a novel one as well.
Assuntos
Condrodisplasia Punctata/complicações , Implante Coclear/instrumentação , Implantes Cocleares , Perda Auditiva Neurossensorial/cirurgia , Condrodisplasia Punctata/patologia , Cóclea/patologia , Cóclea/cirurgia , Implante Coclear/métodos , Perda Auditiva Neurossensorial/etiologia , Humanos , Lactente , MasculinoRESUMO
CASE: We present a case of brachytelephalangic chondrodysplasia punctata with a severe atlantoaxial dislocation in an underdeveloped child. The patient underwent halo jacket application using 10 halo pins with <1 lb/in of torque, followed by posterior occipitocervical fusion with onlay rib and iliac autografts. After bone grafts and replacement of the halo ring multiple times, successful osseous fusion had been achieved by the 2-year follow-up. CONCLUSION: Although simple bone-grafting with a halo jacket is useful in underdeveloped patients with skeletal dysplasia, the complications related to halo fixation, including cranial bone perforation, and the patient's neurological status must be carefully monitored.
Assuntos
Articulação Atlantoaxial/lesões , Condrodisplasia Punctata/complicações , Deficiências do Desenvolvimento/complicações , Luxações Articulares/cirurgia , Fusão Vertebral/métodos , Articulação Atlantoaxial/cirurgia , Vértebras Cervicais/cirurgia , Humanos , Lactente , Luxações Articulares/congênito , Masculino , Osso Occipital/cirurgiaRESUMO
OBJECTIVE Chondrodysplasia punctata (CDP), a rare skeletal dysplasia, can lead to cervical spine instability and deformity. However, an optimal neurosurgical intervention has yet to be established. Thus, a retrospective study was conducted to assess the efficacy of various surgical interventions for children with CDP. METHODS The authors retrospectively reviewed 9 cases of CDP in which cervical decompression with or without posterior fusion was performed between April 2007 and May 2016. Patient demographics, preoperative clinical conditions, radiographic findings, surgical procedures, and the postoperative course were analyzed in detail. RESULTS A total of 12 operations were carried out in 9 patients (8 male, 1 female) during the study period. The patients' ages at the initial surgery ranged from 2 months to 2 years. Seven of the children had CDPX1, 1 had CDPX2, and 1 had tibia-metacarpal type CDP (CDP-TM). The lesion occurred at the craniovertebral junction (CVJ) in 7 cases and involved a subaxial deformity in 2 cases. The initial surgery was C-1 laminectomy with occipitocervical fusion (OCF) followed by halo external fixation in 5 cases, OCF alone in 1 case, and C-1 laminectomy alone in 3 cases. Three children required additional surgery. In one of these cases, a staged operation was required because the patient's head was too small to attach a halo ring at the time of the initial procedure (C-1 laminectomy). In another case, OCF was performed 11 months after C-1 laminectomy because of intramedullary signal change on serial MRI, although the child remained asymptomatic. In the third case, additional posterior fusion was performed 17 months after an initial laminectomy and OCF due to newly developed cervical dislocation caudal to the original fusion. This last patient required a third operation 9 months after the second because of deep wound infection. Surgery improved the motor function of all 7 children with CDPX1, but 3 children who had already suffered respiratory failure preoperatively required continued respiratory support. At the time of this report, 7 of the 9 children were alive and in stable condition. One child died due to restrictive respiratory insufficiency, and another died in an accident unrelated to CDP. CONCLUSIONS Surgical decompression with or without fusion for CVJ and subaxial cervical lesions in infants and toddlers with CDP generally saves lives and increases the likelihood of motor function recovery. However, in this case series the patients' preoperative condition had a strong effect on postoperative respiratory function. The surgery was not straightforward, and a second operation was required in some cases. Nevertheless, the findings indicate that early surgical intervention for CDP with cervical involvement is feasible, suggesting that the role of neurosurgery should be reevaluated.
Assuntos
Medula Cervical/anormalidades , Medula Cervical/cirurgia , Condrodisplasia Punctata/cirurgia , Descompressão Cirúrgica/métodos , Doenças da Coluna Vertebral/cirurgia , Fusão Vertebral/métodos , Parafusos Ósseos , Medula Cervical/diagnóstico por imagem , Pré-Escolar , Condrodisplasia Punctata/complicações , Condrodisplasia Punctata/diagnóstico por imagem , Feminino , Humanos , Lactente , Instabilidade Articular/etiologia , Instabilidade Articular/cirurgia , Masculino , Estudos Retrospectivos , Doenças da Coluna Vertebral/etiologia , Tomógrafos Computadorizados , Resultado do TratamentoRESUMO
We present concurrent X-linked chondrodysplasia punctata and ichthyosis vulgaris in adolescent fraternal twin girls, notable for initial presentation with dry skin in adolescence, characterized by dark-brown scale typical of ichthyosis vulgaris and blaschkolinear, atrophic, scaly plaques. This constellation of findings prompted further genetic investigation. Using a multigene approach to examine 39 genes associated with congenital ichthyosis, next-generation sequencing revealed a novel heterozygous missense mutation at a mutational hotspot in the EBP gene c.439C>T (p.R147C) in conjunction with a single nonsense mutation in the FLG gene (p.R501X) in both sisters. These individuals highlight the clinical variability of Conradi-Hunermann-Happle syndrome, illustrate the possibility of co-occurrence of rare and common forms of ichthyosis, and demonstrate the utility of multigene analysis.
Assuntos
Condrodisplasia Punctata/genética , Ictiose Vulgar/genética , Proteínas de Filamentos Intermediários/genética , Esteroide Isomerases/genética , Adolescente , Condrodisplasia Punctata/complicações , Feminino , Proteínas Filagrinas , Humanos , Ictiose Vulgar/complicações , Mutação de Sentido Incorreto , Pele/patologia , GêmeosRESUMO
Chondrodysplasia punctata is a group of congenital bone and cartilage disorders characterized by erratic calcification during development. Laryngeal and tracheal calcification and subsequent stenosis, while being reported in several cases of chondrodysplasia punctata, are not frequent findings and there are no proposed management techniques. We describe here a case of an infant with chondrodysplasia punctata associated to tracheal stenosis that was successfully treated with balloon dilation, and with long term follow-up.
Assuntos
Condrodisplasia Punctata/diagnóstico , Estenose Traqueal/etiologia , Condrodisplasia Punctata/complicações , Humanos , Lactente , MasculinoRESUMO
Chondrodysplasia punctata (CP) is a systemic disorder of chondrogenesis. The most prominent features of patients with CP are abnormal faces characterized by a flat nose and short stature. CP patients show various types and levels of hearing loss. This disease is rare, and no successful tympanoplasties with hearing recovery have been reported. Here, we report on a CP case, in which hearing recovery was successfully treated with tympanoplasty.
Assuntos
Condrodisplasia Punctata/cirurgia , Perda Auditiva Condutiva/cirurgia , Timpanoplastia , Adolescente , Condrodisplasia Punctata/complicações , Perda Auditiva Condutiva/etiologia , Humanos , MasculinoRESUMO
Genetic skin diseases, or genodermatoses, often have extracutaneous manifestations. Ocular manifestations in particular can have significant clinical implications, like blindness. Other manifestations, such as the corneal opacities that occur in X-linked ichthyosis, are asymptomatic but characteristic of a particular genodermatosis. Ophthalmologic examination can aid in diagnosis when characteristic findings are seen. The genodermatoses with ocular manifestations will be reviewed, but neurocutaneous, syndromes, genetic pigmentary disorders, and genetic metabolic diseases are not included because they are covered elsewhere in this issue.
Assuntos
Síndrome do Nevo Basocelular/complicações , Oftalmopatias/etiologia , Oftalmopatias/terapia , Dermatopatias Genéticas/complicações , Neoplasias Cutâneas/complicações , Vesícula/complicações , Síndrome de Bloom/complicações , Condrodisplasia Punctata/complicações , Síndrome de Cockayne/complicações , Disceratose Congênita/complicações , Síndrome de Ehlers-Danlos/complicações , Epidermólise Bolhosa/complicações , Hipoplasia Dérmica Focal/complicações , Homocistinúria/complicações , Humanos , Ictiose/complicações , Ceratite/complicações , Ceratodermia Palmar e Plantar/complicações , Síndrome de Marfan/complicações , Síndromes Neurocutâneas/complicações , Nevo/complicações , Osteogênese Imperfeita/complicações , Doenças Periodontais/complicações , Transtornos de Fotossensibilidade/complicações , Pseudoxantoma Elástico/complicações , Doença de Refsum/complicações , Síndrome de Rothmund-Thomson/complicações , Síndrome de Sjogren-Larsson/complicações , Síndromes de Tricotiodistrofia/complicações , Tirosinemias/complicações , Xeroderma Pigmentoso/complicaçõesRESUMO
BACKGROUND: Dystonia due to spinal lesions in adult patients is characterized by the provocation and/or amelioration of the spasm by somatosensory stimulation with a sensory trick. PATIENT DESCRIPTION: An infant with brachytelephalangic chondrodysplasia punctata developed flaccid tetraplegia due to cervical cord compression resulting from congenital atlantoaxial dislocation. Episodic, tonic extension of the extremities, neck, and trunk had appeared daily since age two years and was often provoked by tactile stimulation. Although decompression surgery was performed at age three years, progressive spinal deformity resulted in the aggravation of episodic dystonia thereafter, lasting for hours. Foot dorsiflexion and wearing a truncal brace for scoliosis inhibited these spasms. Intrathecal baclofen bolus injection transiently ameliorated the paroxysmal dystonia and detrusor-sphincter dyssynergia in the lower urinary tract. CONCLUSION: Paroxysmal dystonia is unusual in children with spinal cord lesions; however, it should be recognized for appropriate individualized clinical management.
Assuntos
Artrogripose/complicações , Baclofeno/uso terapêutico , Condrodisplasia Punctata/complicações , Distonia/tratamento farmacológico , Distonia/etiologia , Neuropatia Hereditária Motora e Sensorial/complicações , Relaxantes Musculares Centrais/uso terapêutico , Artrogripose/etiologia , Pré-Escolar , Condrodisplasia Punctata/diagnóstico por imagem , Distonia/diagnóstico por imagem , Neuropatia Hereditária Motora e Sensorial/etiologia , Humanos , Injeções Espinhais , Imageamento por Ressonância Magnética , MasculinoRESUMO
Calcification of the airways is rarely seen in children. A male baby was born at 34 weeks with severe respiratory distress. Intubation was difficult with severe hypercarbia after intubation. Chest radiography demonstrated calcification in the tracheobronchial tree and this was confirmed with Chest CT scan. Flexible bronchoscopy confirmed long-segment funnel tracheal stenosis with visible calcifications in the trachea and bronchi. Chondrodysplasia punctata was diagnosed based on the clinical and radiological findings.
Assuntos
Obstrução das Vias Respiratórias/etiologia , Condrodisplasia Punctata/complicações , Doenças do Recém-Nascido/diagnóstico , Obstrução das Vias Respiratórias/diagnóstico , Broncopatias/diagnóstico , Broncopatias/patologia , Calcinose/diagnóstico , Calcinose/etiologia , Condrodisplasia Punctata/diagnóstico , Humanos , Recém-Nascido , Masculino , Tomografia Computadorizada por Raios X , Doenças da Traqueia/diagnóstico , Doenças da Traqueia/patologiaRESUMO
Chondrodysplasia punctata brachytelephalangic type is a common subset of a heterogeneous group of chondrodysplasia punctata. Most affected children generally do not have significant physical disabilities; however, a small number of patients are at risk of cervical canal stenosis with cervical cord compression leading to serious morbidity and early mortality. Very little is known about the in utero manifestation of severe complications. We report an affected child in whom the Binder phenotype was found on antenatal ultrasound and cervical spinal cord compression on fetal magnetic resonance imaging. Prenatal diagnosis of chondrodysplasia punctata brachytelephalangic type and its complications are beneficial for timely, prompt medical intervention.
Assuntos
Vértebras Cervicais/patologia , Condrodisplasia Punctata/complicações , Doenças Genéticas Ligadas ao Cromossomo X/complicações , Compressão da Medula Espinal/diagnóstico , Compressão da Medula Espinal/etiologia , Adulto , Condrodisplasia Punctata/diagnóstico , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Humanos , Imageamento por Ressonância Magnética , Masculino , Fenótipo , Gravidez , Diagnóstico Pré-Natal , Tomografia Computadorizada por Raios X , Ultrassonografia Pré-NatalRESUMO
BACKGROUND: The term cutis tricolor describes the combination of congenital hyper- and hypo-pigmented skin lesions in close proximity to each other in a background of normal complexion. This phenomenon has been reported so far: (i) as pure cutaneous trait, (ii) as a part of a complex malformation syndrome (Ruggieri-Happle syndrome--RHS), (iii) as a distinct type (cutis tricolor parvimaculata); (iv) in association with other (e. g., vascular) skin disturbances. AIM: The aim of this study was to define the spectrum of neurological abnormalities in cutis tricolor. METHODS: A retrospective and prospective 14-year study of clinical, electroencephalographic (EEG), neuroradiological (MRI), cytogenetic and ZFHX1B gene studies of 14 individuals (8 M, 6 F; aged 2-28 years) with cutis tricolor (4 pure cutaneous; 10 syndromic) was undertaken. RESULTS: Neurological involvement was recorded in 71.4% (10/14) of the patients [100% (10/10) in RHS and null (0/4) in cases with isolated skin manifestations] and included psychomotor delay (n=8), seizures (n=9), EEG abnormalities (n=6), a behavioural phenotype (n=4), non-specific brain abnormalities (n=6). Genetic analyses excluded ZFHX1B mutations and revealed a 19qter deletion (n=1). CONCLUSIONS: Even though we could not exclude the ascertainment and referral biases, we concluded that cutis tricolor may be a marker of underlying neurological involvement particularly in subjects with a syndromic (RHS) phenotype.
Assuntos
Condrodisplasia Punctata/complicações , Condrodisplasia Punctata/patologia , Doenças do Sistema Nervoso/etiologia , Fenótipo , Transtornos da Pigmentação/complicações , Transtornos da Pigmentação/patologia , Adolescente , Adulto , Encéfalo/patologia , Criança , Pré-Escolar , Eletroencefalografia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Exame Neurológico/métodos , Testes Neuropsicológicos , Estudos Retrospectivos , Pele/patologia , Adulto JovemAssuntos
Condrodisplasia Punctata/complicações , Deformidades Congênitas da Mão/complicações , Complicações na Gravidez/patologia , Deficiência de Vitamina K/complicações , Criança , Feminino , Deformidades Congênitas da Mão/diagnóstico por imagem , Humanos , Lactente , Recém-Nascido , Fenótipo , Gravidez , Radiografia , Adulto JovemRESUMO
Radiologic manifestations of X-linked chondrodysplasia punctata (CDPX1) typically include chondrodysplasia, epiphyseal stippling, punctate calcification of cartilage, distal phalangeal hypoplasia, and nasal/midface hypoplasia. We present an infant with CDPX1 demonstrating calcification and stenosis of the entire trachea and mainstem bronchi, as well as possible anterior C1 subluxation due to progression of congenital vertebral dysplasia.
Assuntos
Broncopatias/complicações , Broncopatias/diagnóstico por imagem , Vértebras Cervicais/lesões , Condrodisplasia Punctata/complicações , Condrodisplasia Punctata/diagnóstico por imagem , Traumatismos da Coluna Vertebral/diagnóstico por imagem , Traumatismos da Coluna Vertebral/etiologia , Vértebras Cervicais/diagnóstico por imagem , Constrição Patológica/complicações , Constrição Patológica/diagnóstico por imagem , Humanos , Recém-Nascido , Masculino , Radiografia , Estenose Traqueal/complicações , Estenose Traqueal/diagnóstico por imagemRESUMO
Fibroblast growth factor receptor 3 (FGFR3) is a key regulator of skeletal development and activating mutations in FGFR3 cause skeletal dysplasias, including hypochondroplasia, achondroplasia and thanatophoric dysplasia. The introduction of the Y367C mutation corresponding to the human Y373C thanatophoric dysplasia type I (TDI) mutation into the mouse genome, resulted in dwarfism with a skeletal phenotype remarkably similar to that of human chondrodysplasia. To investigate the role of the activating Fgfr3 Y367C mutation in auditory function, the middle and inner ear of the heterozygous mutant Fgfr3(Y367C/+) mice were examined. The mutant Fgfr3(Y367C/+) mice exhibit fully penetrant deafness with a significantly elevated auditory brainstem response threshold for all frequencies tested. The inner ear defect is mainly associated with an increased number of pillar cells or modified supporting cells in the organ of Corti. Hearing loss in the Fgfr3(Y367C/+) mouse model demonstrates the crucial role of Fgfr3 in the development of the inner ear and provides novel insight on the biological consequences of FGFR3 mutations in chondrodysplasia.