Project description:Radiation-induced sarcoma of the breast is an iatrogenic malignancy that occurs secondary to radiotherapy, which is most commonly given following breast conservation surgery. It has an incidence of 3.2 per 1,000 patients at 15 years and is associated with a poor prognosis. We report a 62-year-old female with a history of bilateral breast conservation surgery and radiotherapy 5 years ago presenting with bilateral angiosarcoma. This case report highlights the importance of considering radiation-induced angiosarcoma of the breast as a differential diagnosis in a patient with recurrent breast neoplasms. The challenges in the management with recent evidence on new treatment modalities are discussed.
Project description:Propionic acidaemia (PA) is an autosomal recessive disease that results from deficiency of propionyl-CoA carboxylase (PCC). In the majority of reported cases, the phenotype includes metabolic acidosis and/or neurological deficits. We report on a 14-year-old Asian-American male with PA who presented with isolated cardiomyopathy without any documented episodes of metabolic acidosis or evidence of any neurocognitive deficits. On routine metabolic screening, the patient was found to have urine organic acids suggestive of PA. Biochemical and genetic characterization confirmed a PCC deficiency with two novel mutations in PCCB: IVS7 + 2 T > G (c.763 + 2 T > G) and p.R410Q (c.1229 G > A). Residual enzyme activity likely explains our patient's mild phenotype. Splicing mutations tend to result in a milder phenotype as these mutations may still produce small amounts of normal enzyme. In addition, the similar p.R410W mutation has been shown to have partial residual activity. Moreover, this case illustrates that a thorough metabolic evaluation should be performed in both paediatric and adult patients with cardiomyopathy. Such an evaluation has important implications for clinical management and genetic counselling.
Project description:Introduction:A pyosalpinx is the acute inflammation of the Fallopian tube fills up and swells with pus, which commonly results from inadequate or delayed treatment of pelvic inflammatory disease. Herein we report a case of bilateral pyosalpinx mimicking an ovarian torsion. Presentation of case:We reported the case of a 27-year-old female patient, who presented to the emergency department with complaints of constant, worsening lower abdominal pain for 2-3 days. Pelvic and transvaginal ultrasound examinations were performed which demonstrated a large, complex cystic structure in the right adnexa with peripheral flow on color Doppler imaging. The possibilities included ovarian torsion or hemorrhagic cyst. Intraoperative findings showed bilateral pyosalpinx and treated successfully by laparoscopic bilateral salpingostomy. Conclusion:The present case highlights the diagnostic dilemma of bilateral pyosalpinx must be taken into account in the differential diagnosis of ovarian torsion or tumor, particularly in women of reproductive age.
Project description:BackgroundSquamosal sutures are minor sutures of the human skull. Early isolated fusion of the sutures (squamosal synostosis) is rarely found.ObservationsThe authors report a case of a girl who presented with an abnormal head shape and bilateral squamosal synostosis. Genetic testing revealed a chromosome 1p12-1p13.3 deletion. She has been managed with conservative treatment of the synostosis. She has global developmental delay and multiple anomalies due to the chromosome abnormality.LessonsIsolated squamosal suture synostosis could be an uncommon feature of chromosome 1p12-1p13.3 deletion.
Project description:PurposeRecognize a rare yet existing risk of severe visual loss as a postoperative complication of bilateral lung transplant.ObservationsA 62-year-old male had undergone bilateral lung transplant for end-stage idiopathic pulmonary fibrosis and emphysema overlap syndrome. The operation was initially off-pump; however, during the left lung transplantation, cardiopulmonary bypass conversion was necessary to maintain intraoperative hemodynamic stability. On post-operative day 4, shortly after extubation and full recovery from sedation, the patient reported bilateral no light perception vision. There were no other associated neurologic symptoms. A computed tomographic (CT) of the head, cranial magnetic resonance (MR) scan of the head, MR angiogram of the circle of Willis and neck were negative. Neuro-ophthalmologic examination revealed no light perception vision in both eyes(OU). The pupils were non-reactive to light (amaurotic pupils). The intraocular pressure measured 18 mm Hg OU, and complete bilateral ophthalmoplegia was present. The fundus exam showed bilateral pallid optic disc edema, cherry red spots, with arteriolar attenuation, and mildly dilated and tortuous veins. Stroke work up was negative.Conclusions and importanceA case of post-operative visual loss and ophthalmoplegia carrying significant and permanent quality of life implications. It questions the role disruption of homeostasis during cardiopulmonary bypass contributes for this outcome.
Project description:Background:Cranial nerve palsies are well-known complications of basal meningitis, especially in patients with tuberculous meningitis. However, a minority of bacterial meningitis gets complicated with cranial nerve palsies. Although cerebral infarctions are known to occur with acute bacterial meningitis, infarctions occurring in the brainstem are infrequently described. Case Presentation:We report a 46-year-old healthy female who presented with dysarthria with fever, headache, and vomiting and was diagnosed to have acute pyogenic meningitis complicated with a brainstem infarction resulting in bilateral hypoglossal palsy. Her MRI revealed an infarction in the lower part of the medulla oblongata, probably involving the bilateral hypoglossal nuclei. Conclusion:Isolated bilateral hypoglossal nerve palsy is an extremely rare cranial nerve palsy, secondary to pyogenic meningitis. To our knowledge, this should be the first reported case of isolated bilateral hypoglossal nerve palsy due to a brainstem infarct in the background of pyogenic meningitis.
Project description:PurposeTo report a case of myasthenia gravis presenting with a false localizing sign, a bilateral pseudo internuclear ophthalmoplegia.ObservationsA 61 year-old male presented with a five-week history of painless binocular oblique diplopia that was associated with fatigue, vocal hoarseness and bilateral ptosis, the latter two of which worsened through the course of the day. Exam was remarkable for an apparent bilateral internuclear ophthalmoplegia (INO). MRI of the brain with and without contrast and MRA of the head and neck were within normal limits. Lab work was positive for anti-AChR binding, blocking, and modulating antibodies, as well as anti-striated muscle and anti-titin antibodies. The patient was initiated on therapy for myasthenia gravis.Conclusion and importanceAlthough myasthenia gravis often presents with ptosis or diplopia, rarely patients may develop pseudo-INO secondary to extraocular muscle weakness. True INO occurs with damage to the medial longitudinal fasciculus, a myelinated tract of fibers that controls yoked horizontal eye movements. Clinicians should be suspicious of the false localizing sign of a pseudo-INO associated with myasthenia gravis when more common causes of INO have been excluded.
Project description:We report an unusual presentation of an orbital cavernous hemangioma in a 26-year-old female, who noted sudden redness and swelling of the left eye (LE) on waking up. At presentation, upper eyelid edema with periorbital ecchymosis and subconjunctival hemorrhage were noted in the LE. Although there was transient symptomatic relief with topical medications, blurring of vision developed in the LE. When seen 10 days later, the patient's LE showed axial proptosis. Magnetic resonance imaging revealed an intraconal soft tissue mass in the superomedial quadrant of the left orbit. Superior orbitotomy with mass excision was done; histopathological examination of the excised mass revealed a cavernous hemangioma. The patient had complete visual recovery following surgery. To our knowledge, an acute presentation of an orbital cavernous hemangioma with subconjunctival hemorrhage and periorbital ecchymosis has not previously been reported.