Monodactyly in a patient with CHARGE syndrome: An additional case report.

CHARGE syndrome is a rare autosomal dominant syndrome characterized by multiple congenital anomalies including coloboma, heart defects, ear anomalies, and developmental delay, caused by pathogenic variants in the CHD7 gene. The discovery of the molecular basis of this syndrome increased the number of cases reported and expanded the phenotype and clinical variability. Limb anomalies are occasional clinical findings in this syndrome, present in about 30% of reported cases. The occurrence of limb anomalies in this syndrome suggests that it should be considered as part of the phenotypic spectrum. Here, we describe an individual with CHARGE syndrome presenting unilateral monodactyly.

Analysis of intracranial pressure waveform using a non-invasive method in individuals with craniosynostosis.

PURPOSE: Craniosynostosis can lead to symptoms resulting from cranial compliance (CC) changes and intracranial hypertension (ICH), which may cause cognitive and visual impairment. Non-invasive methods have emerged, including a new device that captures and processes the intracranial pressure waveform (ICPw) by the skull's oscillation. The present study evaluates ICPw obtained non-invasively (NIICPw) in patients with craniosynostosis. METHODS: This prospective, cross-sectional, and descriptive study was conducted at a single center. Patients diagnosed with craniosynostosis and who provided informed consent were included. A US Food and Drug Administration-approved mechanical extensometer device (Brain4Care Corp.) was used to obtain a NIICPw. An ophthalmologist did a point-of-care retinography to check the optic nerve papilla. The P2/P1 ratio and the morphology of the NIICPw were analyzed, as well as the retinography. RESULTS: Thirty-five patients were evaluated, and 42 registers were obtained because seven were assessed before and after the surgery. The two patients who presented papilledema had low CC (NIICPw shape Class 3 or 4). There was a significant association between NIICPw and papilledema. CONCLUSION: The ratio P2/P1 and the NIICPw morphology provided by a non-invasive monitor are related to CC changes before papilledema occurs. This is especially useful in patients with craniosynostosis because invasive ICP monitoring is not always feasible. Further studies are warranted to establish the clinical utility of NIICPw in patients with craniosynostosis.

Corneal stromal dystrophies: a clinical pathologic study.

INTRODUCTION: Corneal dystrophy is defined as bilateral and symmetric primary corneal disease, without previous associated ocular inflammation. Corneal dystrophies are classified according to the involved corneal layer in superficial, stromal, and posterior dystrophy. Incidence of each dystrophy varies according to the geographic region studied. PURPOSE: To evaluate the prevalence of stromal corneal dystrophies among corneal buttons specimens obtained by penetrating keratoplasty (PK) in an ocular pathology laboratory and to correlate the diagnosis with patient age and gender. METHODS: Corneal button cases of penetrating keratoplasty from January-1996 to May-2009 were retrieved from the archives of The Henry C. Witelson Ophthalmic Pathology Laboratory and Registry, Montreal, Canada. The cases with histopathological diagnosis of stromal corneal dystrophies were stained with special stains (Peroxid acid Schiff, Masson trichrome, Congo red analyzed under polarized light, and alcian blue) for classification and correlated with epidemiological information (age at time of PK and gender) from patients' file. RESULTS: 1,300 corneal buttons cases with clinical diagnose of corneal dystrophy were retrieved. Stromal corneal dystrophy was found in 40 (3.1%) cases. Lattice corneal dystrophy was the most prevalent with 26 cases (65%). Nineteen were female (73.07%) and the PK was performed at average age of 59.3 years old. Combined corneal dystrophy was found in 8 (20%) cases, 5 (62.5%) of them were female and the average age of the penetrating keratoplasty was 54.8 years old. Granular corneal dystrophy was represented by 5 (12.5%) cases, and 2 (40%) of them were female. Penetrating keratoplasty was performed at average age of 39.5 years old in granular corneal dystrophy cases. Macular corneal dystrophy was present in only 1 (2.5%) case, in a 36 years old female. CONCLUSION: Systematic histopathological approach and evaluation, including special stains in all stromal corneal dystrophies is critical to establish the correct diagnosis.

Corneal stromal dystrophies: a clinical pathologic study / Distrofia corneana estromal: um estudo clínicopatológico

INTRODUCTION: Corneal dystrophy is defined as bilateral and symmetric primary corneal disease, without previous associated ocular inflammation. Corneal dystrophies are classified according to the involved corneal layer in superficial, stromal, and posterior dystrophy. Incidence of each dystrophy varies according to the geographic region studied. PURPOSE: To evaluate the prevalence of stromal corneal dystrophies among corneal buttons specimens obtained by penetrating keratoplasty (PK) in an ocular pathology laboratory and to correlate the diagnosis with patient age and gender. METHODS: Corneal button cases of penetrating keratoplasty from January-1996 to May-2009 were retrieved from the archives of The Henry C. Witelson Ophthalmic Pathology Laboratory and Registry, Montreal, Canada. The cases with histopathological diagnosis of stromal corneal dystrophies were stained with special stains (Peroxid acid Schiff, Masson trichrome, Congo red analyzed under polarized light, and alcian blue) for classification and correlated with epidemiological information (age at time of PK and gender) from patients' file. RESULTS: 1,300 corneal buttons cases with clinical diagnose of corneal dystrophy were retrieved. Stromal corneal dystrophy was found in 40 (3.1%) cases. Lattice corneal dystrophy was the most prevalent with 26 cases (65%). Nineteen were female (73.07%) and the PK was performed at average age of 59.3 years old. Combined corneal dystrophy was found in 8 (20%) cases, 5 (62.5%) of them were female and the average age of the penetrating keratoplasty was 54.8 years old. Granular corneal dystrophy was represented by 5 (12.5%) cases, and 2 (40%) of them were female. Penetrating keratoplasty was performed at average age of 39.5 years old in granular corneal dystrophy cases. Macular corneal dystrophy was present in only 1 (2.5%) case, in a 36 years old female. CONCLUSION: Systematic histopathological approach and evaluation, including special stains in all stromal corneal dystrophies is critical to establish the correct diagnosis.

INTRODUÇÃO: A distrofia corneana é definida como doença primária da córnea, bilateral e simétrica, sem associação com inflamação ocular prévia. Distrofias corneanas são classificados de acordo com a camada corneana envolvida em distrofia superficial, estromal e posterior. A incidência de cada distrofia varia de acordo com a região geográfica estudada. OBJETIVO: Avaliar a prevalência de distrofias corneanas estromal em botões corneanos de espécimes obtidos por ceratoplastia penetrante (CP), oriundos do arquivo de um laboratório de patologia ocular e correlacionar o diagnóstico com a idade e o sexo dos pacientes. MÉTODOS: Os botões corneanos oriundos de ceratoplastia penetrante recebidos entre janeiro de 1996 e maio de 2009 foram selecionados dos arquivos do Henry C. Witelson Ocular Pathology and Registry Laboratory, em Montreal, Canadá. Os casos com diagnóstico histopatológico de distrofias corneanas estromal foram corados com colorações especiais ("Peroxid acid Schiff", tricrômico de Masson, vermelho Congo analisadas sob luz polarizada, e "alcian blue") para a classificação e foram correlacionados com dados epidemiológicos (idade na época da ceratoplastia penetrante e sexo) dos pacientes. RESULTADOS: 1.300 casos de botões corneanos com diagnóstico clínico de distrofia corneana foram recuperados. Distrofia corneana estromal foi encontrada em 40 (3,1%) dos casos. Distrofia corneana lattice foi a mais prevalente com 26 casos (65%). Dezenove eram do sexo feminino (73,07%) e CP foi realizada em média com 59,3 anos de idade. Distrofia corneana combinada foi encontrada em 8 (20%) casos, 5 (62,5%) eram do sexo feminino e a idade média da CP foi de 54,8 anos. Distrofia corneana granular foi encontrada em 5 (12,5%) casos, e 2 (40%) deles eram do sexo feminino. A ceratoplastia penetrante foi realizada na média de idade de 39,5 anos, em casos de distrofia corneana granular. A distrofia corneana macular esteve presente em apenas um caso (2,5%), 36 anos de idade do sexo feminino. CONCLUSÃO: A abordagem histopatológica e avaliação sistemáticas, incluindo colorações especiais em todas as distrofias corneanas é essencial para estabelecer o correto diagnóstico.