scholarly journals Salzmann nodular degeneration features in a case of Kabuki make-up syndrome

2019 ◽  
Vol 12 (5) ◽  
pp. e228010
Author(s):  
Amélia Martins ◽  
Mariana Almeida Oliveira ◽  
Andreia Rosa ◽  
Joaquim Murta
Keyword(s):  
Congenital Anomaly ◽  
Mitomycin C ◽  
Medical Therapy ◽  
Rare Case ◽  
Life Quality ◽  
Symptomatic Improvement ◽  
Ophthalmological Examination ◽  
Kabuki Syndrome ◽  
Multiple Congenital Anomaly ◽  
Ocular Abnormalities

Kabuki syndrome (KS) is a multiple congenital anomaly syndrome with diversified ophthalmological manifestations. We report a case of a boy with bilateral features of Salzmann nodular degeneration (SND) associated with KS. An 18-year-old Caucasian man with KS presented for a second opinion regarding incapacitating photophobia in his right eye, refractory to medical therapy. Biomicroscopy revealed bilateral subepithelial nodules in the midperiphery of the cornea, less extensive in the left eye, consistent with SND. Symptomatic improvement was achieved after superficial keratectomy, manually performed with a blade and adjuvant application of mitomycin C. We report a rare case of a KS patient with SND. Since KS manifestations may vary widely, it is important to perform an early ophthalmological examination for prompt detection and treatment of ocular abnormalities and thus improve life quality in these patients.

Lower Lip Pits: Van der Woude or Kabuki Syndrome?

2014 ◽  
Vol 51 (6) ◽  
pp. 729-734 ◽  
Author(s):  
Ferri P. David-Paloyo ◽  
Xuecai Yang ◽  
Ju-Li Lin ◽  
Fen-Hwa Wong ◽  
Yah-Huei Wu-Chou ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Mental Retardation ◽  
Clinical Spectrum ◽  
Facial Features ◽  
Kabuki Syndrome ◽  
Multiple Congenital Anomaly ◽  
Van Der Woude Syndrome ◽  
Lower Lip ◽  
Long Term Prognosis

Kabuki syndrome (KS) is a multiple congenital anomaly/mental retardation syndrome with characteristic facial features. Despite more than 350 documented cases and recent correlation of MLL2 mutations as a genetic cause, its full clinical spectrum is still being defined. This report describes two patients who were initially diagnosed with Van der Woude syndrome (VWS) based on the presence of lower lip pits. However, this finding can occur with KS, albeit infrequently. For patients with lower lip pits, a thorough evaluation should be made to distinguish between VWS and KS, as there are differences in long-term prognosis.

scholarly journals Complications and Management of a Rare Case of Disseminated Coccidioidomycosis to the Vertebral Spine

2018 ◽  
Vol 2018 ◽  
pp. 1-3
Author(s):  
Sammy G. Nakhla
Keyword(s):  
Medical Therapy ◽  
Rare Case ◽  
Pulmonary Infection ◽  
Surgical Intervention ◽  
Compression Fracture ◽  
Endemic Region ◽  
Valley Fever ◽  
Skeletal Involvement ◽  
Bone Infections ◽  
Lumbar Vertebral Body

Coccidioidomycosis, also known as San Joaquin Valley Fever or Valley Fever, is mostly a pulmonary infection caused by inhalation of spores in an endemic region. Dissemination to bone, joints, meninges, and skin occurs less than one percent of the time. Skeletal involvement accounts for approximately half of the disseminated coccidioidomycosis with the vertebrae as the most common skeletal region. We present a very rare case of disseminated coccidioidomycosis with osteomyelitis and compression fracture of the lumbar vertebral body. This case depicts some of the potential issues that can arise in managing coccidioidomycosis, especially when noncompliance to initial azoles occurs, that can lead to dissemination and complicated bone infections necessitating surgical intervention along with continuous medical therapy.

scholarly journals Intestinal Intussusception Due to Meckel’s Diverticulum.

2019 ◽  
pp. 1-5
Keyword(s):  
Congenital Anomaly ◽  
Gastrointestinal Tract ◽  
General Population ◽  
Rare Case ◽  
Meckel’S Diverticulum ◽  
Meckel's Diverticulum ◽  
Abdominal Complications ◽  
Intestinal Intussusception

Abstract Meckel’s diverticulum (MD) is the most common congenital anomaly of the gastrointestinal tract and affects 1% - 4% of the general population. Most patients are asymptomatic throughout their lives, but it is estimated that 4% - 6% will have some symptoms, which usually occur due to abdominal complications. This study aimed to report a rare case of Meckel’s diverticulum complicated by intestinal intussusception.

scholarly journals Ocular abnormalities in Polish Hunting Dogs

PLoS ONE ◽  
2021 ◽  
Vol 16 (11) ◽  
pp. e0258636
Author(s):  
Ireneusz Balicki ◽  
Małgorzata Goleman ◽  
Agnieszka Balicka
Keyword(s):  
Clinical Signs ◽  
Eye Diseases ◽  
Ophthalmological Examination ◽  
Progressive Retinal Atrophy ◽  
Ocular Abnormalities ◽  
Retinal Lesions ◽  
Retinal Layers ◽  
Hunting Dogs ◽  
Interdigitation Zone ◽  
Sd Oct

This study aimed to describe and determine the prevalence of ocular abnormalities in Polish Hunting Dogs. The study was conducted with 193 Polish Hunting Dogs: 101 female and 92 male animals, aged between 3 months and 12 years. Ophthalmic examinations were performed using slit lamp biomicroscopy, ophthalmoscopy, and tonometry based on the ophthalmological protocol for the examination of hereditary eye diseases. Spectral-domain optical coherence tomography (SD-OCT) was performed for dogs with sudden acquired retinal degeneration syndrome (SARDS) and progressive retinal atrophy (PRA), while electroretinography was also performed in dogs with SARDS. Five dogs (2.6%) were diagnosed with cataract, iris coloboma in 3 dogs (1.6%), ocular dermoid in 1 dog (0.5%), and retinal dysplasia, distichiasis and entropion in 1 dog (1%). Three dogs (1.6%) were diagnosed with PRA and SARDS occurred in 1 dog. Retinal lesions was observed in 16 dogs (8.3%). The clinical signs of retinopathy observed in Polish Hunting Dogs included discoloration of the tapetal fundus, patchy increased reflectivity in the region of discoloration, focus of hyperpigmentation and an area of tapetal hyper-reflectivity with a pigmented center. SD-OCT performed in the 3 dogs with PRA revealed alteration in the retinal layers, which was most advanced in the non-tapetal fundus. Although SD-OCT revealed retinal layers with normal architecture only in some parts of the dorsal, nasal and temporal regions in dogs with SARDS, areas of disorganized external limiting membrane, myeloid zone, ellipsoid zone, outer photoreceptor segment and interdigitation zone were also observed. Polish Hunting Dogs should undergo periodic ophthalmological examination for the evaluation of other hereditary eye diseases. The prevalence of retinal lesions in Polish Hunting Dogs requires further research.

The First Case Report of Kabuki Syndrome from the National Iranian Registry of Primary Immunodeficiencies

2021 ◽  
Vol 21 ◽  
Author(s):  
Molood Safarirad ◽  
Ali Abbaszadeh Ganji ◽  
Saba Fekrvand ◽  
Reza Yazdani ◽  
Ahmad Vosughi Motlagh ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Intellectual Disability ◽  
Definitive Diagnosis ◽  
Facial Features ◽  
Kabuki Syndrome ◽  
Rare Congenital Anomaly ◽  
Dysmorphic Features ◽  
Pathogenic Variants ◽  
First Case ◽  
Whole Exome

: Kabuki syndrome is a rare congenital anomaly/mental retardation syndrome characterized by intellectual disability, developmental delay, short stature, facial dysmorphic features including ectropion of the lateral third of the lower eyelids and long palpebral fissures, and prominent finger pads. Pathogenic variants of KMT2D (MLL2) and KDM6A are found to be the major causes of Kabuki syndrome. Here, we report the first Iranian case with Kabuki syndrome with an IQ of 79, two episodes of viral pneumonia and distinctive facial features, prominent ears and persistent fetal fingertip pads. These characteristics raised our suspicion for performing whole-exome sequencing (WES), which revealed 2 heterozygous pathogenic missense variants in the KMT2D gene: c.C10024T in exon 34 leading to p.R3342C and c.G15005A in exon 48 leading to p.R5002Q. Hence, the definitive diagnosis of Kabuki syndrome was made based on molecular findings along with the intellectual disability and characteristic facial features.

Tube Shunt Surgery Versus Trabeculectomy in Eyes with Prior Ocular Surgery and Uncontrolled Glaucoma

2020 ◽  
pp. 103-108
Author(s):  
Alan D. Penman ◽  
Kimberly W. Crowder ◽  
William M. Watkins
Keyword(s):  
Mitomycin C ◽  
Medical Therapy ◽  
Cataract Extraction ◽  
Glaucoma Surgery ◽  
Shunt Surgery ◽  
Ocular Surgery ◽  
Lens Implantation ◽  
Surgical Options ◽  
Tube Versus ◽  
Tube Shunt

The Tube Versus Trabeculectomy (TVT) Study was a randomized clinical trial comparing tube shunt surgery to trabeculectomy with mitomycin C in patients with uncontrolled glaucoma (intraocular pressure (IOP) ≥18 mm Hg and ≤40 mm Hg on maximum tolerated medical therapy) who had previously undergone cataract extraction with intraocular lens implantation and/or failed filtering surgery. The study did not demonstrate clear superiority of one glaucoma operation over the other, but indicated that both tube shunt surgery and trabeculectomy with mitomycin C were viable surgical options for treating medically uncontrolled glaucoma in this group of patients. Both procedures were associated with similar IOP reduction and use of supplemental medical therapy at 5 years. Additional glaucoma surgery was needed more frequently after trabeculectomy with MMC than tube shunt placement.

scholarly journals Noonan syndrome: a clinical and genetic study of 31 patients

1999 ◽  
Vol 54 (5) ◽  
pp. 147-150 ◽  
Author(s):  
Débora Romeo Bertola ◽  
Sofia M. M. Sugayama ◽  
Lilian Maria José Albano ◽  
Ae Kim Chong ◽  
Claudette Hajaj Gonzalez
Keyword(s):  
Congenital Anomaly ◽  
Short Stature ◽  
Family Member ◽  
Genetic Study ◽  
Noonan Syndrome ◽  
Autosomal Dominant ◽  
Clinical Findings ◽  
Multiple Congenital Anomaly ◽  
Genetic Characteristics ◽  
Cardiac Anomalies

Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females) affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%); craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed neck (87%); cardiac anomalies (65%), and fetal pads in fingers and toes (70%). After studying the probands' first-degree relatives, we made the diagnosis of Noonan syndrome in more than one family member in three families. Therefore, the majority of our cases were sporadic.

scholarly journals Littre Hernia: A Rare Case of an Incarcerated Meckel’s Diverticulum

2017 ◽  
Vol 03 (02) ◽  
pp. E91-E92 ◽  
Author(s):  
Brian Malling ◽  
Andreas Karlsen ◽  
Jesper Hern
Keyword(s):  
Congenital Anomaly ◽  
Small Intestine ◽  
Rare Case ◽  
Meckel’S Diverticulum ◽  
Pancreatic Tissue ◽  
Meckel's Diverticulum ◽  
Ectopic Gastric Mucosa ◽  
Common Complication ◽  
Vitelline Duct ◽  
Littre Hernia

A Meckel’s diverticulum is a remnant of the vitelline duct, which leads to the formation of a true diverticulum containing all layers of the small intestine. The diverticulum can contain ectopic gastric, duodenal or pancreatic tissue and is the most common congenital anomaly of the gastrointestinal tract with estimates of prevalence ranging from 0.3% to 3%. The condition is usually clinically silent. In children the most common complication is gastrointestinal bleeding caused by ulceration due to the acid secretion by ectopic gastric mucosa.

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