Herein, we report a case of VAIHS with atypical clinical presentation of perianal abscess, fistula fever and bicytopenia including pathogenic ADA2 mutation suggesting that ADA2 deﬁciency be considered as a differential diagnosis of enlarging cutaneous abscess with no evidence of wound healing in the setting of leukopenia and neutropenia.
Dexamethasone can reduce post-operative pain and swelling. An appropriate administration of dexamethasone for dental surgical procedures may be local submucosal infiltration. Local delivery may produce a faster onset with more drug at the desired site of action. A single submucosal dose will unlikely produce side effects.
We present a 15-year-old female with syndromic intellectual disability whose exome reanalysis identified paternal pathogenic BRCA1 and BRCA2 variants. We highlight the significant challenges posed by this finding in genetic counseling and cancer risk management of an adolescent with nonverbal intellectual disability.
A child had been vomiting, convulsing, and having an abnormal sensorium for 3 days. He fell from his mother's lap 20 days back. On CT scan brain, he had traumatic subdural effusion. In the emergency room, he underwent subdural effusion needle aspiration, which resulted in an immediate improvement in GCS.
H Syndrome is a rare genodermatosis. It may include facial involvement such as : facial telangiectasia, both hypo- and hyperpigmented lesions, hirsutism, swollen cheeks due to subcutaneous infiltration and eczematous lesions. We describe a new facial phenotype with dermoscopic and histological features in the spectrum of non-Langerhans cell histiocytosis.
Thalassemia is a well-understood genetic disorder, and routine genetic tests typically cover 95% of known genetic mutations. Discordance between the clinical phenotype and genotypes suggest that expanded genetic studies should be performed to look for rare mutations.We report two pregnant women at 17 week gestations. Routine laboratory and geneti
a 45‑year‑old male patient that presented with a verrucous hyperkeratotic plaque on the lower lip mimicking Squamous Cell Carcinoma. However, oral examination revealed, reticulated white patches on the bilateral buccal mucosa, and a biopsy of the lip lesion revealed lichenoid dermatitis which led to the diagnosis of hypertrophic lichen planus
Abstract: Multirooted supernumerary tooth is a rare finding, which predisposes to various malocclusion. The present case report depicts the presence of a multirooted supernumerary tooth in the anterior maxilla just adjacent to the midline in a 24-year-old patient. Keywords: anterior, maxilla, multirooted, supernumerary.
We describe here the third reported case of anaphylaxis after ingestion of some leavers of Moringa oleifera, causing a widespread angioedema, a respiratory distress and an elevation of serum tryptase. Moringa oleifera leavers were confirmed as the causative allergen by prick testing with fresh leavers.
Papillary thyroid carcinoma (PTC) accounts for the vast majority of thyroid cancer cases. Cerebellar metastasis is rarely the presenting feature. We report a patient presenting with a cerebellar lesion which demonstrated metastatic PTC upon resection, with unusual features including incidental medullary thyroid microcarcinoma without PTC in the main thyroidectomy specimen.
Primary herpetic gingivostomatitis(PHGS)is a manifestation of primary herpes infection with the simplex virus .It may be preceded by some prodromal symptoms.After the resolution of the primary infection, the virus remains latent in a nervous ganglion. The aim of this paper was to report a case of PHGS in a child
Transient cortical blindness (TCB) is a rare cerebral angiography complication with unknown etiology. A patient with a wide-neck cavernous aneurysm developed TCB. Vision restored spontaneously one hour after angiography, with no lasting neurological deficit. Three hours after the incident, MRI indicated no abnormalities.
A mixed breed dog was treated for severe hemolytic anemia secondary to Babesia canis infection. Within 14 hours of hospitalization, the dog developed respiratory distress and hypoxemia. The patient improved with lung-protective mechanical ventilation and neuromuscular blockade. The dog survived to discharge and was reportedly healthy at three-month follow up.
Synovial sarcoma(SS) occurs in various parts of the body,predominantly in extremities.It also occurs in organs without synoviom. Intracranial disease, has been reported as metastasis,but primary intracranial SS has been reported rarely. we report a pateint with hemiplegia and a mass on brain CT. pathology showed SS with no extracranial pathology