scholarly journals An 18-Month-Old Child with Infantile Pompe Disease: Oral Signs

2017 ◽  
Vol 2017 ◽  
pp. 1-3 ◽  
Author(s):  
Derya Ceyhan ◽  
Burcu Gucyetmez Topal
Keyword(s):  
Male Patient ◽  
Pompe Disease ◽  
Tooth Eruption ◽  
Anterior Region ◽  
Information Platform ◽  
Dental Examination ◽  
Dental Abnormalities ◽  
Infantile Pompe Disease ◽  
The Right

We aim to create an information platform by contributing orodental findings of Pompe disease to literature. An 18-month-old male patient with Pompe disease was referred to our clinic due to swelling of the gums. In first dental examination, a nonfluctuant, normal gingiva colored swelling at the right anterior region of maxilla was detected. His parents were recommended to perform finger massage to the region. Six months later, 51, 52, 62, and 74 numbered teeth had erupted, there was a fusion between 51 and 52 numbered teeth, 84 numbered tooth was seen to be erupted, and a swelling at the site of this tooth, similar to previous one, was present. Finger massage was recommended for this area as well, and the swelling was found to have decreased at the follow-up, one week later. Tooth eruption problems and developmental dental abnormalities should be included in the signs for Pompe disease.

scholarly journals Endoscope-Assisted Microsurgical Removal of an Optic Foramen Meningioma through a Frontolateral Minicraniotomy

2018 ◽  
Vol 79 (S 02) ◽  
pp. S227-S228 ◽  
Author(s):  
Peter Kurucz ◽  
Holger Opitz ◽  
Michael Buchfelder ◽  
Oliver Ganslandt
Keyword(s):  
Male Patient ◽  
Visual Disturbance ◽  
Skin Incision ◽  
Optic Canal ◽  
Visual Recovery ◽  
Microsurgical Technique ◽  
The Right

AbstractA 72-year-old male patient with visual disturbance of the right eye was diagnosed with a small meningioma of the right optic foramen extending to the carotid cistern. The operation was performed through an individually tailored frontolateral minicraniotomy via a curvilinear skin incision behind the hairline. Endoscope-assisted microsurgical technique was used to resect the lesion. The roof of the optic canal was partly removed to get access to the intraforaminal tumor parts. The lesion could be completely removed and the patient showed a satisfactory visual recovery in the follow-up examinations.The link to the video can be found at: https://youtu.be/p8EZx7aryeQ.

scholarly journals Corneal crosslinking in a case with Axenfeld–Rieger syndrome and unilateral pellucid marginal degeneration

2019 ◽  
Vol 11 ◽  
pp. 251584141882228 ◽  
Author(s):  
Mustafa Koc ◽  
Pinar Kosekahya ◽  
Merve Inanc ◽  
Kemal Tekin
Keyword(s):  
Visual Acuity ◽  
Male Patient ◽  
Vision Loss ◽  
Slit Lamp ◽  
Slit Lamp Examination ◽  
Corneal Crosslinking ◽  
Rieger Syndrome ◽  
Corrected Distance Visual Acuity ◽  
The Right

A 31-year-old male patient presented with the complaint of progressive vision loss in his left eye. Slit-lamp examination showed posterior embryotoxon, iris hypoplasia, and iridocorneal adhesion in both eyes, corectopia in the right, and peripheral inferior thinning and ectasia in the left eye. Corneal topography showed slightly asymmetric bowtie pattern in the right eye and crab-claw pattern in the left eye. Topographic examination was compared with his previous topography. The comparison showed 1.6-D steepening of maximum keratometry ( Kmax) and 22-µm decrease of thinnest corneal pachymetry. Corneal crosslinking treatment was performed on the left eye. At the postoperative 28-month follow-up visit, Kmax decreased from 54.1 to 53.0 D and corrected distance visual acuity improved to 20/20 with scleral lens. This is the first reported a case with Axenfeld–Rieger syndrome and pellucid marginal degeneration association. We suggest that corneal crosslinking can be useful for management of pellucid marginal degeneration and longer follow-up might be needed in order to corroborate the effectiveness of the corneal crosslinking procedure.

scholarly journals Endoscope-Assisted Minimally Invasive Microsurgical Removal of a Medium-Sized Acoustic Neuroma (T3a) through a Retrosigmoid Mini-Craniotomy with Preservation of Hearing

2019 ◽  
Vol 80 (S 03) ◽  
pp. S276-S278 ◽  
Author(s):  
Peter Kurucz ◽  
Laszlo Barany ◽  
Michael Buchfelder ◽  
Oliver Ganslandt
Keyword(s):  
Minimally Invasive ◽  
Male Patient ◽  
Acoustic Neuroma ◽  
Internal Auditory Meatus ◽  
Microsurgical Technique ◽  
Hearing Recovery ◽  
The Right

A 45-year-old male patient with reduced hearing in the right ear was diagnosed with a medium-sized (T3a) acoustic neuroma. The operation was performed through an individually tailored retrosigmoid mini-craniotomy. Endoscope-assisted microsurgical technique was applied to early detect the location of the facial and cochlear nerves as well as to look around the hidden corners during the surgery. The entire operation was performed without using brain retractors. The moderate intrameatal extension of the tumor and the use of angled endoscopes allowed to avoid the drilling of the internal auditory meatus. The lesion could be completely removed and the patient showed a satisfactory hearing recovery in the follow-up examinations 3 months after the surgery.The link to the video can be found at: https://youtu.be/dAYLakih924.

scholarly journals Left-Sided Pulmonary Isolations After Complete Right-Sided Pneumonectomy: Technical Challenges to Clinical Success

2021 ◽  
Vol 34 (1) ◽  
pp. 48-52
Author(s):  
Gustavo Henrique Sumnienski Bertoldi ◽  
Rafael March Ronsoni ◽  
Tiago Luiz Silvestrini
Keyword(s):  
Left Atrium ◽  
Male Patient ◽  
Clinical Success ◽  
Clinical Situation ◽  
New Approach ◽  
Af Ablation ◽  
Intracardiac Ultrasound ◽  
The Right ◽  
Safety Procedures

Male patient, 76 years old, presented symptomatic paroxysmal AF for almost 2 years. Long submitted to total right pneumonectomy and having a major cardiac rotation. The use of tomography and intracardiac ultrasound were fundamental for a better anatomic comprehension and optimization of the safety procedures for AF ablation in these patients, due to the difficulty in accessing the left atrium and the consequent manipulation of catheters. In this case, electrical signals have not yet been detected in the stumps on the right side, with only the left veins being isolated. This approach constitutes a new approach in this clinical situation, with clinical success in a 3-year follow-up.

Swallow prognosis and follow up protocol in infantile Pompe disease

2016 ◽  
Vol 117 (2) ◽  
pp. S111
Author(s):  
Gyani Swift ◽  
Maureen Cleary ◽  
Sonia Lozano ◽  
Martina Ryan ◽  
Stephanie Grunewald ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Infantile Pompe Disease

scholarly journals Testicular Torsion in Cerebropalsy Patient with Undescended Testis: Do Not Misdiagnose it!

2021 ◽  
pp. 1-2
Author(s):  
Sabounji Mohamed Salsabil ◽  
◽  
Camara Souleymane ◽  
Faye Babacar ◽  
Ndour Oumar ◽  
...  
Keyword(s):  
Physical Examination ◽  
Male Patient ◽  
Testicular Torsion ◽  
Undescended Testis ◽  
Inguinal Region ◽  
The Right

We report a 13-year-old male patient with cerebropalsy, presented with right inguinal swelling since 12 hours. Physical examination found a firm painful swelling in the right inguinal region and an empty controlateral scrotum. Exploration found a testicular torsion with undescended testis. Detorsion and Orchidopexy were performed. Follow up was uneventful

scholarly journals Second primary chondrosarcoma of the maxilla: a case report

2020 ◽  
Vol 6 (9) ◽  
pp. 1733
Author(s):  
Shreeya Pabi ◽  
Yanpothung Yanthan ◽  
Sweety Gupta ◽  
Biswajyoti Das ◽  
Ajas Ibrahim ◽  
...  
Keyword(s):  
Case Report ◽  
Male Patient ◽  
Punch Biopsy ◽  
Treatment Modalities ◽  
Second Primary ◽  
Uncommon Case ◽  
Well Differentiated ◽  
The Right

<p>We are reporting an uncommon case of second primary chondrosarcoma of the maxilla in a 52-year-old male patient. Patient had first been diagnosed in 2004 with chondrosarcoma of the right maxilla. He had undergone right partial maxillectomy for the same. Since 2016 he had started noticing a swelling over the left side of the maxilla. Repeated biopsies from the growth showed no evidence of any malignancy. Hence, he was kept on routine follow up. However, in 2018, during follow up the growth had increased in size - hard swelling present in remnant post partial maxillectomy cavity, non-tender -and a punch biopsy was taken, revealing a well differentiated chondrosarcoma. A diagnosis of second primary chondrosarcoma of the maxilla was made based on Warren and Gates criteria. A brief discussion on the radiologic and histologic presentation of the tumor and the treatment modalities of this unusual tumor is discussed.</p>

scholarly journals Long-term follow-up results in patients with classic infantile Pompe disease receiving enzyme therapy since newborn

2013 ◽  
Vol 108 (2) ◽  
pp. S29-S30
Author(s):  
Yin-Hsiu Chien ◽  
Wuh-Liang Hwu ◽  
Ni-Chung Lee ◽  
Chun-An Chen ◽  
Fuu-Jen Tsai ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Enzyme Therapy ◽  
Long Term Follow Up ◽  
Infantile Pompe Disease
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